Toyokolabs/retinoblastoma · Datasets at Hugging Face

instruction stringlengths 30 82	output stringlengths 13 790
How long is the variation length for RS587778856 SNP?	The variation length is 1 base pairs.
What is the origin for RS587778856 SNP?	The origin is somatic.
What is the type of genetic variation for RS587778856 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS587778856 SNP?	The resulting gene consequence is a synonymous variant.
Which condition is asociated with RS587778845 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/RsRS587778845 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778845 SNP.
In which chromosome is RS587778845 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587778845 SNP?	Associated methods are: research.
What is the clinical significance of RS587778845 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587778845 SNP?	The variation length is 1 base pairs.
What is the origin for RS587778845 SNP?	The origin is somatic.
What is the type of genetic variation for RS587778845 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS587778845 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS587778847 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/RsRS587778847 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778847 SNP.
In which chromosome is RS587778847 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587778847 SNP?	Associated methods are: research.
What is the clinical significance of RS587778847 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587778847 SNP?	The variation length is 1 base pairs.
What is the origin for RS587778847 SNP?	The origin is somatic.
What is the type of genetic variation for RS587778847 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS587778847 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS587778863 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/RsRS587778863 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778863 SNP.
In which chromosome is RS587778863 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587778863 SNP?	Associated methods are: research.
What is the clinical significance of RS587778863 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587778863 SNP?	The variation length is 1 base pairs.
What is the origin for RS587778863 SNP?	The origin is somatic.
What is the type of genetic variation for RS587778863 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS587778863 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS587781256 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/RsRS587781256 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587781256 SNP.
In which chromosome is RS587781256 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587781256 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS587781256 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587781256 SNP?	The variation length is 21 base pairs.
What is the origin for RS587781256 SNP?	The origin is germline.
What is the type of genetic variation for RS587781256 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS587781256 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS587781257 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/RsRS587781257 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587781257 SNP.
In which chromosome is RS587781257 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587781257 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS587781257 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587781257 SNP?	The variation length is 1 base pairs.
What is the origin for RS587781257 SNP?	The origin is germline.
What is the type of genetic variation for RS587781257 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS587781257 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with DEL399102?	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/RsDEL399102. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL399102.
In which chromosome is DEL399102 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL399102?	Associated methods are: clinical testing.
What is the clinical significance of DEL399102, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL399102?	The variation length is 2601 base pairs.
What is the origin for DEL399102?	The origin is germline.
What is the type of genetic variation for DEL399102?	The variation is a Deletion.
Which condition is asociated with DEL399611?	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/RsDEL399611. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL399611.
In which chromosome is DEL399611 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL399611?	Associated methods are: clinical testing.
What is the clinical significance of DEL399611, is it benign or pathogenic?	It is Likely pathogenic.
How long is the variation length for DEL399611?	The variation length is 1850 base pairs.
What is the origin for DEL399611?	The origin is germline.
What is the type of genetic variation for DEL399611?	The variation is a Deletion.
Which condition is asociated with DEL463437?	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/RsDEL463437. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL463437.
In which chromosome is DEL463437 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL463437?	Associated methods are: clinical testing.
What is the clinical significance of DEL463437, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL463437?	The variation length is 41756 base pairs.
What is the origin for DEL463437?	The origin is germline.
What is the type of genetic variation for DEL463437?	The variation is a Deletion.
Which condition is asociated with RS1555282775 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/RsRS1555282775 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555282775 SNP.
In which chromosome is RS1555282775 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1555282775 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1555282775 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1555282775 SNP?	The variation length is 1 base pairs.
What is the origin for RS1555282775 SNP?	The origin is germline.
What is the type of genetic variation for RS1555282775 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1555282775 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS1555294600 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/RsRS1555294600 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555294600 SNP.
In which chromosome is RS1555294600 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1555294600 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1555294600 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1555294600 SNP?	The variation length is 2 base pairs.
What is the origin for RS1555294600 SNP?	The origin is germline.
What is the type of genetic variation for RS1555294600 SNP?	The variation is a Insertion.
What is the genetic molecular consequence for RS1555294600 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with DEL527719?	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/RsDEL527719. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL527719.
In which chromosome is DEL527719 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL527719?	Associated methods are: clinical testing.
What is the clinical significance of DEL527719, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL527719?	The variation length is 176171 base pairs.
What is the origin for DEL527719?	The origin is germline.
What is the type of genetic variation for DEL527719?	The variation is a Deletion.
Which condition is asociated with RS1566234123 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/RsRS1566234123 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566234123 SNP.
In which chromosome is RS1566234123 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566234123 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1566234123 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1566234123 SNP?	The variation length is 1 base pairs.
What is the origin for RS1566234123 SNP?	The origin is germline.
What is the type of genetic variation for RS1566234123 SNP?	The variation is a Duplication.
What is the genetic molecular consequence for RS1566234123 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1566199059 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/RsRS1566199059 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566199059 SNP.
In which chromosome is RS1566199059 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566199059 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1566199059 SNP, is it benign or pathogenic?	It is Pathogenic.

How long is the variation length for RS587778856 SNP?

The variation length is 1 base pairs.

What is the origin for RS587778856 SNP?

The origin is somatic.

What is the type of genetic variation for RS587778856 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS587778856 SNP?

The resulting gene consequence is a synonymous variant.

Which condition is asociated with RS587778845 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/RsRS587778845 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778845 SNP.

In which chromosome is RS587778845 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS587778845 SNP?

Associated methods are: research.

What is the clinical significance of RS587778845 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS587778845 SNP?

The variation length is 1 base pairs.

What is the origin for RS587778845 SNP?

The origin is somatic.

What is the type of genetic variation for RS587778845 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS587778845 SNP?

The resulting gene consequence is a nonsense.

Which condition is asociated with RS587778847 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/RsRS587778847 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778847 SNP.

In which chromosome is RS587778847 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS587778847 SNP?

Associated methods are: research.

What is the clinical significance of RS587778847 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS587778847 SNP?

The variation length is 1 base pairs.

What is the origin for RS587778847 SNP?

The origin is somatic.

What is the type of genetic variation for RS587778847 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS587778847 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS587778863 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/RsRS587778863 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778863 SNP.

In which chromosome is RS587778863 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS587778863 SNP?

Associated methods are: research.

What is the clinical significance of RS587778863 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS587778863 SNP?

The variation length is 1 base pairs.

What is the origin for RS587778863 SNP?

The origin is somatic.

What is the type of genetic variation for RS587778863 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS587778863 SNP?

The resulting gene consequence is a nonsense.

Which condition is asociated with RS587781256 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/RsRS587781256 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587781256 SNP.

In which chromosome is RS587781256 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS587781256 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS587781256 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS587781256 SNP?

The variation length is 21 base pairs.

What is the origin for RS587781256 SNP?

The origin is germline.

What is the type of genetic variation for RS587781256 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS587781256 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with RS587781257 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/RsRS587781257 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587781257 SNP.

In which chromosome is RS587781257 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS587781257 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS587781257 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS587781257 SNP?

The variation length is 1 base pairs.

What is the origin for RS587781257 SNP?

The origin is germline.

What is the type of genetic variation for RS587781257 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS587781257 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with DEL399102?

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/RsDEL399102. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL399102.

In which chromosome is DEL399102 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL399102?

Associated methods are: clinical testing.

What is the clinical significance of DEL399102, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL399102?

The variation length is 2601 base pairs.

What is the origin for DEL399102?

The origin is germline.

What is the type of genetic variation for DEL399102?

The variation is a Deletion.

Which condition is asociated with DEL399611?

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/RsDEL399611. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL399611.

In which chromosome is DEL399611 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL399611?

Associated methods are: clinical testing.

What is the clinical significance of DEL399611, is it benign or pathogenic?

It is Likely pathogenic.

How long is the variation length for DEL399611?

The variation length is 1850 base pairs.

What is the origin for DEL399611?

The origin is germline.

What is the type of genetic variation for DEL399611?

The variation is a Deletion.

Which condition is asociated with DEL463437?

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/RsDEL463437. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL463437.

In which chromosome is DEL463437 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL463437?

Associated methods are: clinical testing.

What is the clinical significance of DEL463437, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL463437?

The variation length is 41756 base pairs.

What is the origin for DEL463437?

The origin is germline.

What is the type of genetic variation for DEL463437?

The variation is a Deletion.

Which condition is asociated with RS1555282775 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/RsRS1555282775 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555282775 SNP.

In which chromosome is RS1555282775 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1555282775 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1555282775 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1555282775 SNP?

The variation length is 1 base pairs.

What is the origin for RS1555282775 SNP?

The origin is germline.

What is the type of genetic variation for RS1555282775 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1555282775 SNP?

The resulting gene consequence is a nonsense.

Which condition is asociated with RS1555294600 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/RsRS1555294600 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555294600 SNP.

In which chromosome is RS1555294600 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1555294600 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1555294600 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1555294600 SNP?

The variation length is 2 base pairs.

What is the origin for RS1555294600 SNP?

The origin is germline.

What is the type of genetic variation for RS1555294600 SNP?

The variation is a Insertion.

What is the genetic molecular consequence for RS1555294600 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with DEL527719?

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/RsDEL527719. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL527719.

In which chromosome is DEL527719 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL527719?

Associated methods are: clinical testing.

What is the clinical significance of DEL527719, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL527719?

The variation length is 176171 base pairs.

What is the origin for DEL527719?

The origin is germline.

What is the type of genetic variation for DEL527719?

The variation is a Deletion.

Which condition is asociated with RS1566234123 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/RsRS1566234123 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566234123 SNP.

In which chromosome is RS1566234123 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1566234123 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1566234123 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1566234123 SNP?

The variation length is 1 base pairs.

What is the origin for RS1566234123 SNP?

The origin is germline.

What is the type of genetic variation for RS1566234123 SNP?

The variation is a Duplication.

What is the genetic molecular consequence for RS1566234123 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1566199059 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/RsRS1566199059 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566199059 SNP.

In which chromosome is RS1566199059 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1566199059 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1566199059 SNP, is it benign or pathogenic?

It is Pathogenic.