SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2132929609 ANO3 Health Risk Pathogenic See cases, Dystonia 24
RS2132929769 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 12
RS2132929805 CDH23 Health Risk Pathogenic —
RS2132930073 CDH23 Health Risk Pathogenic —
RS2132938020 CDH23 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2132938148 CDH23 Health Risk Pathogenic —
RS2132939079 CDH23 Health Risk Likely pathogenic —
RS2132939399 WT1 Health Risk Likely pathogenic Wilms tumor 1, Wilms tumor 1
RS2132939500 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS2132940074 WT1 Health Risk Likely pathogenic Wilms tumor 1, Wilms tumor 1
RS2132940635 CDH23 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma 5, multiple types
RS2132941125 AGO2 Health Risk Pathogenic/Likely pathogenic Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
RS2132942163 WT1 Health Risk Pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS2132942367 WT1 Health Risk Pathogenic Frasier syndrome, Wilms tumor 1
RS2132943031 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132943056 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132945702 CDH23 Health Risk Pathogenic —
RS2132945762 CDH23 Health Risk Likely pathogenic Ear malformation, Usher syndrome
RS2132945765 CDH23 Health Risk Pathogenic —
RS2132947899 CDH23 Health Risk Likely pathogenic —
RS2132949774 CDH23 Health Risk Pathogenic —
RS2132949791 CDH23 Health Risk Pathogenic —
RS2132953243 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2132953252 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2132953500 CDH23 Health Risk Pathogenic —
RS2132953942 CDH23 Health Risk Pathogenic —
RS2132954257 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS2132954803 CDH23 Health Risk Pathogenic —
RS2132954843 WHRN Health Risk Pathogenic —
RS2132956266 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS2132957763 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2132957934 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS2132965694 CDH23 Health Risk Pathogenic —
RS2132965891 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2132965979 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132967710 CDH23 Health Risk Pathogenic —
RS2132967767 CDH23 Health Risk Pathogenic —
RS2132967790 CDH23 Health Risk Pathogenic —
RS2132968121 CDH23 Health Risk Pathogenic Usher syndrome, Pituitary adenoma 5
RS2132968572 CDH23 Health Risk Likely pathogenic —
RS2132968839 CDH23 Health Risk Likely pathogenic —
RS2132971817 CDH23 Health Risk Pathogenic —
RS2132971828 CDH23 Health Risk Likely pathogenic —
RS2132973641 HK1 Health Risk Pathogenic —
RS2132976682 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS2132977459 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS2132978502 CDH23 Health Risk Pathogenic —
RS2132978731 CDH23 Health Risk Pathogenic —
RS2132979269 NTRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2132979778 NTRK2 Health Risk Conflicting classifications of pathogenicity Obesity, hyperphagia
RS2132983525 CDH23 Health Risk Pathogenic —
RS2132983720 RET Health Risk Likely pathogenic RET-related disorder, RET-related disorder
RS2132983724 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2132984089 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS2132985083 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2132987446 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132987509 CDH23 Health Risk Likely pathogenic —
RS2132988609 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132988621 CDH23 Health Risk Pathogenic —
RS2132988732 CDH23 Health Risk Pathogenic —
RS2132990173 CDH23 Health Risk Likely pathogenic —
RS2132990504 CDH23 Health Risk Pathogenic —
RS2132990828 CDH23 Health Risk Likely pathogenic —
RS2132991287 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2132991341 PLEC Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS2132993345 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2132994876 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132996862 CDH23 Health Risk Likely pathogenic —
RS2133001222 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2133001560 CDH23 Health Risk Pathogenic —
RS2133002032 CDH23 Health Risk Likely pathogenic —
RS2133002381 CDH23 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2133002929 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS2133003011 CDH23 Health Risk Pathogenic —
RS2133003145 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS2133005844 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2133006228 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2133006435 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B
RS2133006451 RET Health Risk Likely pathogenic —
RS2133006493 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2133006702 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2133007032 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2133007155 CDH23 Health Risk Pathogenic —
RS2133007268 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS2133014993 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2133017541 ABL1 Health Risk Pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS2133020093 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2133020130 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2133020609 PUS7 Health Risk Pathogenic See cases, See cases
RS2133022634 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS2133028167 HNRNPK Health Risk Likely pathogenic —
RS2133028735 OGDHL Health Risk Pathogenic Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
RS2133029712 PSAP Health Risk risk factor Parkinson disease 24, autosomal dominant
RS2133029725 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133030537 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133031097 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133031639 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133032244 WT1 Health Risk Likely pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS2133032257 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2133032654 WT1 Health Risk Conflicting classifications of pathogenicity 11p partial monosomy syndrome, Frasier syndrome
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