Datasets:

Toyokolabs
/

retinoblastoma

instruction stringlengths 30 82	output stringlengths 13 790
Which condition is asociated with RS1375421660 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/RsRS1375421660 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1375421660 SNP.
In which chromosome is RS1375421660 SNP located?	It is located in the chromosome 14.
Which methods support the evidence found for the RS1375421660 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1375421660 SNP, is it benign or pathogenic?	It is Likely pathogenic.
How long is the variation length for RS1375421660 SNP?	The variation length is 2 base pairs.
What is the origin for RS1375421660 SNP?	The origin is germline.
What is the type of genetic variation for RS1375421660 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1375421660 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS137853292 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/RsRS137853292 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853292 SNP.
In which chromosome is RS137853292 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS137853292 SNP?	Associated methods are: literature only.
What is the clinical significance of RS137853292 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS137853292 SNP?	The variation length is 1 base pairs.
What is the origin for RS137853292 SNP?	The origin is germline.
What is the type of genetic variation for RS137853292 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS137853292 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS587776781 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/RsRS587776781 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776781 SNP.
In which chromosome is RS587776781 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587776781 SNP?	Associated methods are: literature only.
What is the clinical significance of RS587776781 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587776781 SNP?	The variation length is 1 base pairs.
What is the origin for RS587776781 SNP?	The origin is somatic.
What is the type of genetic variation for RS587776781 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS587776781 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with DEL28119?	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/RsDEL28119. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL28119.
In which chromosome is DEL28119 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL28119?	Associated methods are: literature only.
What is the clinical significance of DEL28119, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL28119?	The variation length is None base pairs.
What is the origin for DEL28119?	The origin is germline.
What is the type of genetic variation for DEL28119?	The variation is a Deletion.
Which condition is asociated with RS1555285429 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/RsRS1555285429 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555285429 SNP.
In which chromosome is RS1555285429 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1555285429 SNP?	Associated methods are: literature only.
What is the clinical significance of RS1555285429 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1555285429 SNP?	The variation length is 55 base pairs.
What is the origin for RS1555285429 SNP?	The origin is germline.
What is the type of genetic variation for RS1555285429 SNP?	The variation is a Duplication.
What is the genetic molecular consequence for RS1555285429 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS587776784 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/RsRS587776784 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776784 SNP.
In which chromosome is RS587776784 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587776784 SNP?	Associated methods are: literature only.
What is the clinical significance of RS587776784 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587776784 SNP?	The variation length is 10 base pairs.
What is the origin for RS587776784 SNP?	The origin is germline.
What is the type of genetic variation for RS587776784 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS587776784 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS587776785 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/RsRS587776785 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776785 SNP.
In which chromosome is RS587776785 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587776785 SNP?	Associated methods are: literature only.
What is the clinical significance of RS587776785 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587776785 SNP?	The variation length is 9 base pairs.
What is the origin for RS587776785 SNP?	The origin is unknown.
What is the type of genetic variation for RS587776785 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS587776785 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS387906520 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/RsRS387906520 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS387906520 SNP.
In which chromosome is RS387906520 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS387906520 SNP?	Associated methods are: literature only.
What is the clinical significance of RS387906520 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS387906520 SNP?	The variation length is 1 base pairs.
What is the origin for RS387906520 SNP?	The origin is germline.
What is the type of genetic variation for RS387906520 SNP?	The variation is a single nucleotide variant.
Which condition is asociated with RS137853295 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/RsRS137853295 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853295 SNP.
In which chromosome is RS137853295 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS137853295 SNP?	Associated methods are: literature only.
What is the clinical significance of RS137853295 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS137853295 SNP?	The variation length is 1 base pairs.
What is the origin for RS137853295 SNP?	The origin is germline.
What is the type of genetic variation for RS137853295 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS137853295 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS587776790 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/RsRS587776790 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776790 SNP.
In which chromosome is RS587776790 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587776790 SNP?	Associated methods are: literature only.
What is the clinical significance of RS587776790 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587776790 SNP?	The variation length is 23 base pairs.
What is the origin for RS587776790 SNP?	The origin is germline.
What is the type of genetic variation for RS587776790 SNP?	The variation is a Duplication.
What is the genetic molecular consequence for RS587776790 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS587776791 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/RsRS587776791 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776791 SNP.
In which chromosome is RS587776791 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587776791 SNP?	Associated methods are: literature only.
What is the clinical significance of RS587776791 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587776791 SNP?	The variation length is 1 base pairs.
What is the origin for RS587776791 SNP?	The origin is germline.
What is the type of genetic variation for RS587776791 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS587776791 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS587778858 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/RsRS587778858 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778858 SNP.
In which chromosome is RS587778858 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587778858 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS587778858 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS587778858 SNP?	The variation length is 1 base pairs.
What is the origin for RS587778858 SNP?	The origin is somatic.
What is the type of genetic variation for RS587778858 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS587778858 SNP?	The resulting gene consequence is a nonsense.
Which condition is asociated with RS1566233014 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/RsRS1566233014 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566233014 SNP.
In which chromosome is RS1566233014 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1566233014 SNP?	Associated methods are: research.
What is the clinical significance of RS1566233014 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1566233014 SNP?	The variation length is None base pairs.
What is the origin for RS1566233014 SNP?	The origin is somatic.

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Retinoblastoma Dataset

This dataset contains information related to retinoblastoma from ClinvarTuring https://github.com/ToyokoLabs/ClinvarTuring

Licensing Information

License: cc-by-4.0

Authors

Morgan Lyu, Sebastian Bassi and Virginia Gonzalez

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Number of rows:

16,854