SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1131691867 PIEZO1 Health Risk Likely pathogenic —
RS1131691868 PEX7 Health Risk Likely pathogenic —
RS1131691869 CENPE Health Risk Likely pathogenic —
RS1131691870 GRIN1 Health Risk Likely pathogenic —
RS1131691871 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691872 EIF2B2 Health Risk Likely pathogenic —
RS1131691873 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1131691874 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1131691875 GABRB2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual disability
RS1131691876 RYR1 Health Risk Likely pathogenic —
RS1131691877 DNM1 Health Risk Pathogenic/Likely pathogenic Seizure, Seizure
RS1131691878 KAT6A Health Risk Likely pathogenic —
RS1131691882 ELANE Health Risk Likely pathogenic ELANE-related disorder, ELANE-related disorder
RS1131691883 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1131691884 GABRA1 Health Risk Pathogenic —
RS1131691887 IQSEC2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 1
RS1131691888 COL1A2 Health Risk Likely pathogenic —
RS1131691889 OFD1 Health Risk Likely pathogenic Joubert syndrome 10, Joubert syndrome 10
RS1131691890 ERCC6 Health Risk Likely pathogenic —
RS1131691892 CHD7 Health Risk Pathogenic —
RS1131691893 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 1A
RS1131691894 SURF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4K, Mitochondrial complex IV deficiency
RS1131691895 TUBB3 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Brain malformation
RS1131691896 FLI1 Health Risk Likely pathogenic Bleeding disorder, platelet-type
RS1131691899 ATP2A2 Health Risk Likely pathogenic —
RS1131691900 L1CAM Health Risk Likely pathogenic —
RS1131691901 KRT6B Health Risk Likely pathogenic —
RS1131691902 SLC19A3 Health Risk Likely pathogenic —
RS1131691903 VPS45 Health Risk Likely pathogenic —
RS1131691904 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation
RS1131691909 DYRK1A Health Risk Likely pathogenic —
RS1131691910 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1131691911 SON Health Risk Pathogenic —
RS1131691912 ZEB2 Health Risk Pathogenic —
RS1131691916 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS1131691917 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1131691919 ITPR1 Health Risk Pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS1131691921 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2
RS1131691924 ADGRV1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Retinal dystrophy
RS1131691925 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1131691926 CDKL5 Health Risk Pathogenic —
RS1131691927 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1131691928 STXBP1 Health Risk Likely pathogenic —
RS1131691929 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1131691931 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS1131691932 TBX5 Health Risk Likely pathogenic —
RS1131691933 COL12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1131691935 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome
RS1131691936 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS1131691937 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1131691938 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691939 KCNA2 Health Risk Pathogenic —
RS1131691940 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1131691944 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1131691946 DYRK1A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1131691949 ZFYVE26 Health Risk Pathogenic —
RS1131691951 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1131691952 PDHA1 Health Risk Likely pathogenic —
RS1131691954 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1131691955 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1131691957 CHRNB1 Health Risk Pathogenic —
RS1131691958 KIF7 Health Risk Pathogenic —
RS1131691960 SHANK3 Health Risk Pathogenic —
RS1131691963 JAG1 Health Risk Pathogenic —
RS1131691964 L1CAM Health Risk Pathogenic —
RS1131691965 TSC2 Health Risk Likely pathogenic Lymphangiomyomatosis, Isolated focal cortical dysplasia type II
RS1131691966 SHH Health Risk Likely pathogenic —
RS1131691967 NIPBL Health Risk Likely pathogenic —
RS1131691968 SPG7 Health Risk Likely pathogenic —
RS1131691969 SLC52A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1131691970 GLUL Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 16
RS1131691971 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, SPAST-related disorder
RS1131691972 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1131691973 SLC35A2 Health Risk Likely pathogenic —
RS1131691974 KCNA2 Health Risk Likely pathogenic —
RS1131691975 GSS Health Risk Likely pathogenic —
RS1131691976 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1131691977 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1131691978 SMARCA2 Health Risk Likely pathogenic —
RS1131691979 SYNGAP1 Health Risk Pathogenic Infantile epilepsy syndrome, Inborn genetic diseases
RS1131691980 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1131691981 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1131691982 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1131691983 AIFM1 Health Risk Likely pathogenic —
RS1131691986 RAPSN Health Risk Pathogenic Hydrops fetalis, Congenital myasthenic syndrome
RS1131691988 CREBBP Health Risk Pathogenic —
RS1131691989 SHH Health Risk Likely pathogenic Solitary median maxillary central incisor syndrome, SHH-related disorder
RS1131691992 CYP11B1 Health Risk Likely pathogenic —
RS1131691994 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1131691996 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691997 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS1131691999 GNAS Health Risk Pathogenic/Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS1131692000 PRRT2 Health Risk Likely pathogenic —
RS1131692002 PCDH19 Health Risk Likely pathogenic —
RS1131692012 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1131692014 CHD2 Health Risk Pathogenic —
RS1131692017 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1131692019 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1131692020 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1131692022 COL2A1 Health Risk Likely pathogenic —
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