Toyokolabs/retinoblastoma · Datasets at Hugging Face

instruction stringlengths 30 82	output stringlengths 13 790
How long is the variation length for RS1566199059 SNP?	The variation length is 2 base pairs.
What is the origin for RS1566199059 SNP?	The origin is germline.
What is the type of genetic variation for RS1566199059 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1566199059 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1566186087 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566186087 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566186087 SNP.
In which chromosome is RS1566186087 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566186087 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1566186087 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1566186087 SNP?	The variation length is 1 base pairs.
What is the origin for RS1566186087 SNP?	The origin is germline.
What is the type of genetic variation for RS1566186087 SNP?	The variation is a Insertion.
What is the genetic molecular consequence for RS1566186087 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1566233076 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566233076 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566233076 SNP.
In which chromosome is RS1566233076 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566233076 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1566233076 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1566233076 SNP?	The variation length is 1 base pairs.
What is the origin for RS1566233076 SNP?	The origin is germline.
What is the type of genetic variation for RS1566233076 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1566233076 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with DEL568222?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL568222. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL568222.
In which chromosome is DEL568222 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL568222?	Associated methods are: clinical testing.
What is the clinical significance of DEL568222, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL568222?	The variation length is 176179 base pairs.
What is the origin for DEL568222?	The origin is germline.
What is the type of genetic variation for DEL568222?	The variation is a Deletion.
Which condition is asociated with DEL568225?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL568225. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL568225.
In which chromosome is DEL568225 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL568225?	Associated methods are: clinical testing.
What is the clinical significance of DEL568225, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL568225?	The variation length is 132 base pairs.
What is the origin for DEL568225?	The origin is germline.
What is the type of genetic variation for DEL568225?	The variation is a Deletion.
Which condition is asociated with RS1131690842 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1131690842 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690842 SNP.
In which chromosome is RS1131690842 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1131690842 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1131690842 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1131690842 SNP?	The variation length is 1 base pairs.
What is the origin for RS1131690842 SNP?	The origin is germline.
What is the type of genetic variation for RS1131690842 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1131690842 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1566174147 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566174147 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566174147 SNP.
In which chromosome is RS1566174147 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566174147 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1566174147 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1566174147 SNP?	The variation length is 1 base pairs.
What is the origin for RS1566174147 SNP?	The origin is germline.
What is the type of genetic variation for RS1566174147 SNP?	The variation is a Duplication.
What is the genetic molecular consequence for RS1566174147 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1566197747 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566197747 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566197747 SNP.
In which chromosome is RS1566197747 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566197747 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1566197747 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1566197747 SNP?	The variation length is 1 base pairs.
What is the origin for RS1566197747 SNP?	The origin is germline.
What is the type of genetic variation for RS1566197747 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1566197747 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS1593544647 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593544647 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593544647 SNP.
In which chromosome is RS1593544647 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593544647 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593544647 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1593544647 SNP?	The variation length is 2 base pairs.
What is the origin for RS1593544647 SNP?	The origin is germline.
What is the type of genetic variation for RS1593544647 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1593544647 SNP?	The resulting gene consequence is a splice acceptor variant.
Which condition is asociated with RS1593412272 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593412272 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593412272 SNP.
In which chromosome is RS1593412272 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593412272 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593412272 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS1593412272 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593412272 SNP?	The origin is germline.
What is the type of genetic variation for RS1593412272 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1593412272 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS1593532101 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593532101 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593532101 SNP.
In which chromosome is RS1593532101 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593532101 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593532101 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1593532101 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593532101 SNP?	The origin is germline.
What is the type of genetic variation for RS1593532101 SNP?	The variation is a Insertion.
What is the genetic molecular consequence for RS1593532101 SNP?	The resulting gene consequence is a splice donor variant.
Which condition is asociated with DEL652514?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL652514. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL652514.
In which chromosome is DEL652514 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL652514?	Associated methods are: clinical testing.
What is the clinical significance of DEL652514, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL652514?	The variation length is 3514 base pairs.
What is the origin for DEL652514?	The origin is germline.
What is the type of genetic variation for DEL652514?	The variation is a Deletion.
Which condition is asociated with RS1593539538 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593539538 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593539538 SNP.
In which chromosome is RS1593539538 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593539538 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593539538 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1593539538 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593539538 SNP?	The origin is germline.
What is the type of genetic variation for RS1593539538 SNP?	The variation is a Duplication.
What is the genetic molecular consequence for RS1593539538 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1593457138 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593457138 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457138 SNP.
In which chromosome is RS1593457138 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593457138 SNP?	Associated methods are: clinical testing.

How long is the variation length for RS1566199059 SNP?

The variation length is 2 base pairs.

What is the origin for RS1566199059 SNP?

The origin is germline.

What is the type of genetic variation for RS1566199059 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS1566199059 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1566186087 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566186087 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566186087 SNP.

In which chromosome is RS1566186087 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1566186087 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1566186087 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1566186087 SNP?

The variation length is 1 base pairs.

What is the origin for RS1566186087 SNP?

The origin is germline.

What is the type of genetic variation for RS1566186087 SNP?

The variation is a Insertion.

What is the genetic molecular consequence for RS1566186087 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1566233076 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566233076 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566233076 SNP.

In which chromosome is RS1566233076 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1566233076 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1566233076 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1566233076 SNP?

The variation length is 1 base pairs.

What is the origin for RS1566233076 SNP?

The origin is germline.

What is the type of genetic variation for RS1566233076 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1566233076 SNP?

The resulting gene consequence is a nonsense.

Which condition is asociated with DEL568222?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL568222. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL568222.

In which chromosome is DEL568222 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL568222?

Associated methods are: clinical testing.

What is the clinical significance of DEL568222, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL568222?

The variation length is 176179 base pairs.

What is the origin for DEL568222?

The origin is germline.

What is the type of genetic variation for DEL568222?

The variation is a Deletion.

Which condition is asociated with DEL568225?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL568225. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL568225.

In which chromosome is DEL568225 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL568225?

Associated methods are: clinical testing.

What is the clinical significance of DEL568225, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL568225?

The variation length is 132 base pairs.

What is the origin for DEL568225?

The origin is germline.

What is the type of genetic variation for DEL568225?

The variation is a Deletion.

Which condition is asociated with RS1131690842 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1131690842 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690842 SNP.

In which chromosome is RS1131690842 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1131690842 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1131690842 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1131690842 SNP?

The variation length is 1 base pairs.

What is the origin for RS1131690842 SNP?

The origin is germline.

What is the type of genetic variation for RS1131690842 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS1131690842 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1566174147 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566174147 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566174147 SNP.

In which chromosome is RS1566174147 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1566174147 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1566174147 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1566174147 SNP?

The variation length is 1 base pairs.

What is the origin for RS1566174147 SNP?

The origin is germline.

What is the type of genetic variation for RS1566174147 SNP?

The variation is a Duplication.

What is the genetic molecular consequence for RS1566174147 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1566197747 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1566197747 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566197747 SNP.

In which chromosome is RS1566197747 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1566197747 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1566197747 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1566197747 SNP?

The variation length is 1 base pairs.

What is the origin for RS1566197747 SNP?

The origin is germline.

What is the type of genetic variation for RS1566197747 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1566197747 SNP?

The resulting gene consequence is a nonsense.

Which condition is asociated with RS1593544647 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593544647 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593544647 SNP.

In which chromosome is RS1593544647 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593544647 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593544647 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1593544647 SNP?

The variation length is 2 base pairs.

What is the origin for RS1593544647 SNP?

The origin is germline.

What is the type of genetic variation for RS1593544647 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS1593544647 SNP?

The resulting gene consequence is a splice acceptor variant.

Which condition is asociated with RS1593412272 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593412272 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593412272 SNP.

In which chromosome is RS1593412272 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593412272 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593412272 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS1593412272 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593412272 SNP?

The origin is germline.

What is the type of genetic variation for RS1593412272 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1593412272 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS1593532101 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593532101 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593532101 SNP.

In which chromosome is RS1593532101 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593532101 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593532101 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1593532101 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593532101 SNP?

The origin is germline.

What is the type of genetic variation for RS1593532101 SNP?

The variation is a Insertion.

What is the genetic molecular consequence for RS1593532101 SNP?

The resulting gene consequence is a splice donor variant.

Which condition is asociated with DEL652514?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL652514. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL652514.

In which chromosome is DEL652514 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL652514?

Associated methods are: clinical testing.

What is the clinical significance of DEL652514, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL652514?

The variation length is 3514 base pairs.

What is the origin for DEL652514?

The origin is germline.

What is the type of genetic variation for DEL652514?

The variation is a Deletion.

Which condition is asociated with RS1593539538 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593539538 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593539538 SNP.

In which chromosome is RS1593539538 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593539538 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593539538 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1593539538 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593539538 SNP?

The origin is germline.

What is the type of genetic variation for RS1593539538 SNP?

The variation is a Duplication.

What is the genetic molecular consequence for RS1593539538 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1593457138 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593457138 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457138 SNP.

In which chromosome is RS1593457138 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593457138 SNP?

Associated methods are: clinical testing.