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
RS1057515463 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057515531 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Chronic infantile neurological
RS1057515534 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057515536 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057515537 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS1057515556 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1057515571 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1057515572 PMS2 Health Risk Pathogenic/Likely pathogenic Mismatch repair cancer syndrome 4, Lynch syndrome 4
RS1057515573 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1057515574 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1057515575 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057515576 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 3
RS1057515577 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS1057515579 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057515580 KLHL24 Health Risk Pathogenic Epidermolysis bullosa simplex, Koebner type
RS1057515581 KDM5C Health Risk Pathogenic —
RS1057515582 FLNA Health Risk Pathogenic —
RS1057515583 FLNA Health Risk Pathogenic —
RS1057515584 FLNA Health Risk Pathogenic —
RS1057515585 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1057515614 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS1057515622 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS1057515645 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1057515654 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1057515672 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS1057515721 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome
RS1057515724 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1057515767 AIFM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked mitochondrial encephalomyopathy, Inborn genetic diseases
RS1057515807 FANCB Health Risk Conflicting classifications of pathogenicity VACTERL association, X-linked
RS1057515818 TAFAZZIN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS1057515839 SMPX Health Risk Conflicting classifications of pathogenicity Hearing loss, X-linked 4
RS1057515869 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS1057515877 DMD Health Risk Pathogenic —
RS1057515971 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS1057515989 ABCB7 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS1057516028 DMD Health Risk Pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS1057516029 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1057516030 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1057516031 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1057516032 ATP1A3 Health Risk Likely pathogenic ATP1A3-associated neurological disorder, ATP1A3-associated neurological disorder
RS1057516033 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1057516034 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1057516035 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1057516036 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS1057516037 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1057516038 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Joubert syndrome 23
RS1057516039 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1057516040 NALCN Health Risk Pathogenic/Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS1057516041 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1057516042 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Aortic valve disease 2
RS1057516043 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS1057516044 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS1057516045 LBR Health Risk Conflicting classifications of pathogenicity Pelger-Huët anomaly, 6 conditions
RS1057516046 ACTG2 Health Risk Pathogenic Visceral myopathy 1, Visceral myopathy 1
RS1057516047 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1057516048 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1057516049 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1057516051 DYSF Health Risk Pathogenic Proximal muscle weakness, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1057516052 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1057516053 COL1A2 Health Risk Pathogenic —
RS1057516054 MKKS Health Risk Likely pathogenic McKusick-Kaufman syndrome, McKusick-Kaufman syndrome
RS1057516076 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1057516077 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516079 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516080 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1057516081 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516082 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516083 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516085 KCNQ2 Health Risk Pathogenic Severe intellectual deficiency, Developmental and epileptic encephalopathy
RS1057516086 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516087 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516089 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1057516090 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516091 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1057516092 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1057516093 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516094 KCNQ2 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057516095 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516096 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, KCNQ2-related disorder
RS1057516097 KCNQ2 Health Risk Likely pathogenic —
RS1057516098 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516099 KCNQ2 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057516100 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516101 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057516103 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057516104 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1057516105 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1057516106 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1057516111 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1057516115 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1057516121 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1057516123 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1057516127 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057516128 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057516129 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057516130 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057516132 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057516133 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057516134 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057516135 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
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