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
RS1649719689 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649721643 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649726768 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649727816 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649729767 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649736692 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649747081 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1649753771 PIK3CD Health Risk Conflicting classifications of pathogenicity Immunodeficiency 14, Immunodeficiency 14
RS1649810314 PGM1 Health Risk Likely pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1649901192 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1649902998 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1649996140 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1650036294 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS1650040391 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650058382 SZT2 Health Risk Pathogenic —
RS1650080437 GLUL Health Risk Likely pathogenic Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS1650122493 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650125542 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650126015 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650151137 GORAB Health Risk Pathogenic —
RS1650179029 GLUL Health Risk Pathogenic Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS1650312698 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS1650328268 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650330685 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650330817 CSF3R Health Risk Pathogenic —
RS1650332196 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1650334882 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650335100 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1650335810 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1650336680 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650343681 CSF3R Health Risk Pathogenic —
RS1650343836 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650347038 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650362306 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1650418400 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis 4
RS1650431372 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1650472590 CSF3R Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1650570861 AMPD2 Health Risk Pathogenic —
RS1650621772 AMPD2 Health Risk Pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS1650653829 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS1650708891 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS1650717188 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1650721119 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1650721954 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1650723432 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1650773164 NUF2 Health Risk Pathogenic Short stature, Microcephaly
RS1650834071 CSF3R Health Risk Pathogenic/Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Hereditary neutrophilia
RS1650834725 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1650858382 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1650900557 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650909656 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1650918653 SPTA1 Health Risk Pathogenic —
RS1650926061 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650934988 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1650974818 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1650988132 AMPD2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS1651121815 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1651181046 SASS6 Health Risk Pathogenic Microcephaly 14, primary
RS1651264976 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS1651267435 AGBL5 Health Risk Pathogenic —
RS1651323625 COL11A1 Health Risk Pathogenic —
RS1651341099 LMNA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Charcot-Marie-Tooth disease type 2
RS1651348222 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651352665 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1651353836 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651357012 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651357824 CLDN19 Health Risk Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS1651358664 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651401067 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651407980 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651412496 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651447610 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1651453317 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651455730 PHGDH Health Risk Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS1651459410 HS2ST1 Health Risk Pathogenic NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS, NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
RS1651466808 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651475047 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1651536973 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651537100 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651548761 ATP1A2 Health Risk Pathogenic/Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1651548991 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651556356 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651557199 SZT2 Health Risk Pathogenic —
RS1651564707 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651580090 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation
RS1651596554 LMNA Health Risk Likely pathogenic Proximal muscle weakness, Proximal muscle weakness
RS1651598289 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651615685 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 11 conditions
RS1651641615 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1651642668 LMNA Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1651659929 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651685926 SZT2 Health Risk Pathogenic —
RS1651702189 RORC Health Risk Pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS1651716612 SPTA1 Health Risk Pathogenic Elliptocytosis 2, Elliptocytosis 2
RS1651727299 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1651730901 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1651731153 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1651736894 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1651737692 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1651741944 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
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