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
RS1365982862 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1365986557 ANO10 Health Risk Conflicting classifications of pathogenicity —
RS1366021609 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS1366068006 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366090807 TWNK Health Risk Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS1366091446 ZMYND11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366101480 SLC12A1 Health Risk Likely pathogenic Bartter syndrome, Bartter disease type 1
RS1366112521 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1366120635 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS1366130220 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1366137772 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS1366154374 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1366183602 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1366190965 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1366191812 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS1366194827 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1366267146 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS1366269616 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS1366285612 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1366288601 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1366295189 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1366296798 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1366310126 CERS3;CERS3-AS1 Health Risk Likely pathogenic Ichthyosis and erythrokeratoderma, Ichthyosis and erythrokeratoderma
RS1366314967 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1366318763 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1366326755 NUP188 Health Risk Pathogenic —
RS1366336758 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS1366346212 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1366380820 CUL3 Health Risk Conflicting classifications of pathogenicity —
RS1366385653 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1366387924 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1366388721 ADGRV1 Health Risk Pathogenic —
RS1366389265 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Inborn genetic diseases
RS1366397948 MICU1 Health Risk Pathogenic —
RS1366401484 SPRED1 Health Risk Pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS1366402693 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1366421988 CLN8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1366427526 TOR1AIP1 Health Risk Likely pathogenic —
RS1366457977 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1366461184 IGHMBP2 Health Risk Likely pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS1366464512 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related myopathy
RS1366481570 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS1366496013 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1366496332 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1366525701 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1366528638 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1366534270 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1366543712 KCNJ8 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS1366555985 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS1366556255 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1366557334 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS1366558211 HGSNAT Health Risk Pathogenic/Likely pathogenic —
RS1366567865 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, 7 conditions
RS1366586397 MYO15A Health Risk Pathogenic —
RS1366601691 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1366609497 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1366633810 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366641379 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1366653130 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1366655422 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1366667901 CUL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2E, Neurodevelopmental disorder with or without autism or seizures
RS1366675428 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1366677287 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1366681125 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1366681759 USH2A Health Risk Likely pathogenic —
RS1366682636 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1366683564 BLTP1 Health Risk Pathogenic —
RS1366688487 SLC17A8 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS1366701559 DNASE1L3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366709820 TCIRG1 Health Risk Pathogenic —
RS1366729351 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1366748724 SPR Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS1366768986 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366771173 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS1366773950 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1366781286 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1366785022 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 46, Retinitis pigmentosa 46
RS1366790953 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1366814192 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1366839984 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366853918 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1366859659 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS1366859752 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1366870956 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS1366898427 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1366914385 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1366937730 IFT172 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1366947118 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1366953593 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Primary brain neoplasm
RS1366966423 LOC102724058;SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1366970424 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1366977126 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS1367012950 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS1367055779 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1367061481 TYRP1 Health Risk Pathogenic —
RS1367077331 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1367077861 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1367080635 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1367108095 CDH1 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS1367112998 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
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