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
RS1085307946 FBN1 Health Risk Likely pathogenic —
RS1085307947 KMT2A Health Risk Likely pathogenic —
RS1085307950 PHEX Health Risk Likely pathogenic —
RS1085307951 ADAR Health Risk Likely pathogenic —
RS1085307952 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1085307953 ATP1A2 Health Risk Likely pathogenic —
RS1085307954 SHANK3 Health Risk Likely pathogenic —
RS1085307956 ASNS Health Risk Likely pathogenic —
RS1085307957 VPS13B Health Risk Likely pathogenic —
RS1085307958 BRAT1 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1085307960 ATP2A2 Health Risk Likely pathogenic —
RS1085307961 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1085307962 AR Health Risk Likely pathogenic —
RS1085307963 SLC19A3 Health Risk Likely pathogenic —
RS1085307964 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1085307965 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1085307966 FOXG1 Health Risk Likely pathogenic —
RS1085307967 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS1085307968 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Cone-rod dystrophy 3
RS1085307969 AARS2 Health Risk Likely pathogenic —
RS1085307970 DARS2 Health Risk Likely pathogenic —
RS1085307971 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1085307972 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1085307973 COL9A2 Health Risk Pathogenic/Likely pathogenic Epiphyseal dysplasia, multiple
RS1085307974 TUFM Health Risk Likely pathogenic —
RS1085307976 POLG Health Risk Likely pathogenic —
RS1085307977 MBTPS2 Health Risk Likely pathogenic —
RS1085307978 MYBPC3 Health Risk Likely pathogenic —
RS1085307982 COL4A1 Health Risk Likely pathogenic —
RS1085307983 COL4A2 Health Risk Pathogenic —
RS1085307984 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1085307985 POMT2 Health Risk Pathogenic —
RS1085307987 SYNJ1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 53
RS1085307988 ALOX12B Health Risk Likely pathogenic —
RS1085307989 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS1085307990 AIFM1 Health Risk Likely pathogenic —
RS1085307991 DDC Health Risk Likely pathogenic —
RS1085307992 ATP1A3 Health Risk Likely pathogenic —
RS1085307993 GABRB2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1085307994 LAMB3 Health Risk Likely pathogenic —
RS1085307995 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1085307996 KCNQ3 Health Risk Likely pathogenic —
RS1085307997 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1085307998 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1085307999 SCN8A Health Risk Likely pathogenic Autism, Seizure
RS1085308000 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1085308001 TGM1 Health Risk Likely pathogenic —
RS1085308002 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1085308003 FBP1 Health Risk Pathogenic —
RS1085308004 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1085308005 TUBA1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Tubulinopathy
RS1085308006 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1085308007 FLVCR1 Health Risk Likely pathogenic —
RS1085308008 RYR2 Health Risk Likely pathogenic —
RS1085308009 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1085308010 ITPR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1085308012 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1085308013 SCN8A Health Risk Likely pathogenic —
RS1085308014 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1085308015 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS1085308016 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1085308017 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1085308019 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1085308020 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS1085308021 PYGM Health Risk Likely pathogenic —
RS1085308022 STXBP1 Health Risk Likely pathogenic —
RS1085308023 GABRB3 Health Risk Likely pathogenic —
RS1085308025 MYH7 Health Risk Likely pathogenic —
RS1085308026 TUBB3 Health Risk Likely pathogenic —
RS1085308027 ADCY5 Health Risk Likely pathogenic —
RS1085308028 SATB2 Health Risk Likely pathogenic SATB2-related disorder, SATB2-related disorder
RS1085308029 NTRK2 Health Risk Pathogenic Obesity, hyperphagia
RS1085308030 NPR2 Health Risk Likely pathogenic —
RS1085308031 WNT10A Health Risk Likely pathogenic Odonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome
RS1085308032 ABCA12 Health Risk Likely pathogenic —
RS1085308033 PRUNE1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS1085308034 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1085308035 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1085308037 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1085308038 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1085308039 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308041 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308042 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome
RS1085308043 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308044 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1085308045 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308046 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308048 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1085308049 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1085308050 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308051 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS1085308052 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308053 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1085308054 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1085308055 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1085308056 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1085308057 MSH2 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1085308062 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS10870182 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS10877012 CYP27B1 Health Risk Likely risk allele Vitamin D-dependent rickets, type 1A
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