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
RS2540255891 MARS1 Health Risk Pathogenic Germ cell tumor of testis, Germ cell tumor of testis
RS2540258311 PYROXD1 Health Risk Pathogenic —
RS2540258330 PYROXD1 Health Risk Likely pathogenic —
RS2540259760 AICDA Health Risk Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS2540260284 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS2540260370 SCN8A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2540260520 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2540260583 SCN8A Health Risk Likely pathogenic —
RS2540260600 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2540262850 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS2540265562 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540265567 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540265574 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540275433 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540276834 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540277461 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540288652 MFAP5 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 9
RS2540289128 PYROXD1 Health Risk Pathogenic —
RS2540290892 MARS1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 70, Autosomal recessive spastic paraplegia type 70
RS2540292773 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540293929 RECQL Health Risk Likely pathogenic —
RS2540296604 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS25403 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2540301979 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540302039 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2540302084 SCN8A Health Risk Likely pathogenic SCN8A-related disorder, SCN8A-related disorder
RS2540302255 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2540306816 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540306984 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540306994 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2540307045 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2540308991 SCN8A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Undetermined early-onset epileptic encephalopathy
RS2540309039 SCN8A Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS2540309047 SCN8A Health Risk Likely pathogenic —
RS2540309079 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS2540311940 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2540314073 RECQL Health Risk Conflicting classifications of pathogenicity —
RS2540314871 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS2540315721 SCN8A Health Risk Pathogenic —
RS2540315938 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2540322042 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540327612 HK1 Health Risk Pathogenic —
RS2540327631 HK1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4G, Charcot-Marie-Tooth disease type 4G
RS2540333608 SCN8A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2540333669 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540333855 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540333858 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2540334634 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS2540334717 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2540335641 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS2540335828 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540335831 SCN8A Health Risk Likely pathogenic —
RS2540339398 PEX5 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 5, Rhizomelic chondrodysplasia punctata type 5
RS2540340757 AOPEP Health Risk Pathogenic Dystonia 31, Dystonia 31
RS2540349751 HK1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2540349993 HK1 Health Risk Pathogenic —
RS2540364734 POC1B Health Risk Pathogenic —
RS2540369148 HK1 Health Risk Likely pathogenic Retinitis pigmentosa 79, Retinitis pigmentosa 79
RS2540369572 HK1 Health Risk Likely pathogenic —
RS2540377790 C5 Health Risk Pathogenic —
RS2540383441 CHD4 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540383458 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540389596 DDB2 Health Risk Likely pathogenic Xeroderma pigmentosum, group E
RS2540390261 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540391121 CHD4 Health Risk Likely pathogenic CHD4-related disorder, CHD4-related disorder
RS2540392429 ACBD5 Health Risk Pathogenic —
RS2540393834 DDB2 Health Risk Likely pathogenic —
RS2540395856 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540395930 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540395935 CHD4 Health Risk Conflicting classifications of pathogenicity Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540395943 CHD4 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540396222 CHD4 Health Risk Likely pathogenic CHD4-related disorder, CHD4-related disorder
RS2540396625 CHD4 Health Risk Conflicting classifications of pathogenicity Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540397438 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540397477 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS25404 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2540400714 C5 Health Risk Pathogenic —
RS2540401004 CHD4 Health Risk Likely pathogenic Neonatal encephalopathy, Neonatal encephalopathy
RS2540403868 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540411694 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540412097 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS2540412258 CHD4 Health Risk Conflicting classifications of pathogenicity —
RS2540412301 IRAK4 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia
RS2540412378 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2540415610 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2540415621 PTPN11 Health Risk Likely pathogenic —
RS2540415624 PTPN11 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2540415689 PTPN11 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2540416086 PTPN11 Health Risk Pathogenic Metachondromatosis, RASopathy
RS2540419851 PTPN11 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2540420563 PTPN11 Health Risk Pathogenic Metachondromatosis, Metachondromatosis
RS2540420870 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2540421105 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Aortic valve disease 1
RS2540421448 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Aortic valve disease 1
RS2540421459 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540421985 NOTCH1 Health Risk Pathogenic Abnormal cardiovascular system morphology, Abnormal cardiovascular system morphology
RS2540423602 POC1B Health Risk Pathogenic —
RS2540423816 ACBD5 Health Risk Likely pathogenic —
RS2540424549 TBX5 Health Risk Likely pathogenic Cardiovascular phenotype, Aortic valve disease 2
RS2540425164 TBX5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
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