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
RS2496866040 ABCC8 Health Risk Pathogenic —
RS2496867576 MYO7A Health Risk Pathogenic —
RS2496867841 MYO7A Health Risk Pathogenic/Likely pathogenic —
RS2496867892 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496867941 RELA Health Risk Likely pathogenic RELA-related disorder, RELA-related disorder
RS2496868089 SORL1 Health Risk Pathogenic —
RS2496868859 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496869455 KMT2A Health Risk Pathogenic —
RS2496870461 CD3D Health Risk Likely pathogenic Immunodeficiency 19, Immunodeficiency 19
RS2496871237 RELA Health Risk Likely pathogenic —
RS2496871652 SORL1 Health Risk Likely pathogenic —
RS2496871974 MXI1 Health Risk Pathogenic Prostate cancer, Prostate cancer
RS2496872144 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS2496872707 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496872976 CD3D Health Risk Pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2496875947 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496878023 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS2496878055 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS2496881754 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496881778 DYNC2H1 Health Risk Likely pathogenic —
RS2496881864 TECTA Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2496881880 TECTA Health Risk Likely pathogenic TECTA-related disorder, TECTA-related disorder
RS2496884365 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496884567 KMT2A Health Risk Pathogenic —
RS2496885188 KMT2A Health Risk Pathogenic —
RS2496886120 ALG8 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2496886375 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496887153 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2496887510 MYO7A Health Risk Likely pathogenic —
RS2496887636 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496887731 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2496888313 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2496889084 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2496890055 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2496890418 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2496890590 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2496891224 LRP5 Health Risk Likely pathogenic —
RS2496891596 TECTA Health Risk Pathogenic —
RS2496893600 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2496894090 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2496894498 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496894921 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2496895658 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2496896737 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2496896960 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2496897244 ABCC8 Health Risk Likely pathogenic —
RS2496897477 ABCC8 Health Risk Pathogenic —
RS2496897586 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2496897668 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2496898064 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496899267 LRP5 Health Risk Likely pathogenic —
RS2496899629 LRP5 Health Risk Pathogenic —
RS2496901413 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS2496903018 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496903151 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496903379 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496903775 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496906689 TECTA Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2496908575 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS2496909463 KMT2A Health Risk Likely pathogenic —
RS2496909556 SORL1 Health Risk Pathogenic —
RS2496909934 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496910348 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496913119 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496913133 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496916736 TECTA Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS2496917677 TECTA Health Risk Pathogenic —
RS2496917978 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2496918077 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496918143 ATM Health Risk Pathogenic Gastric cancer, Familial cancer of breast
RS2496918299 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496918509 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496918558 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2496918604 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496918758 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496918974 ABCC8 Health Risk Pathogenic —
RS2496919120 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2496919200 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496919260 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2496919542 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496919689 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496920213 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2496920427 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496921652 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2496921987 TECTA Health Risk Likely pathogenic —
RS2496922131 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496922271 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2496922607 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496922930 DYNC2H1 Health Risk Pathogenic DYNC2H1-related disorder, DYNC2H1-related disorder
RS2496922933 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2496924515 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2496924562 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2496924580 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2496925088 TECTA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS2496926041 TECTA Health Risk Pathogenic —
RS2496929678 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496929792 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496930073 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496930134 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Familial hyperinsulinism
RS2496930367 ABCC8 Health Risk Likely pathogenic —
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