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
RS777446804 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Arrhythmogenic right ventricular cardiomyopathy
RS777446958 ERCC6 Health Risk Pathogenic —
RS777447135 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS777447200 SECISBP2 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS777448999 PDE11A Health Risk Conflicting classifications of pathogenicity PDE11A-related disorder, PDE11A-related disorder
RS77744921 SLC14A1 Health Risk Pathogenic Jk-null variant, Jk-null variant
RS777450156 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS777450803 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS777452432 HERC2 Health Risk Pathogenic —
RS777452903 NSRP1 Health Risk Likely pathogenic —
RS777453130 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS777453297 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS777453585 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS777454204 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777454538 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777455020 FUT1 Health Risk Pathogenic FUT1-related disorder, FUT1-related disorder
RS777455096 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS777455573 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS777455679 LARS2 Health Risk Conflicting classifications of pathogenicity —
RS777455688 BIVM-ERCC5;ERCC5;LOC126861834 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum
RS77745570 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS777456756 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS777456846 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS777457079 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS777457815 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777458464 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS777458559 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS777458586 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, SLCO1B3-related disorder
RS777459060 RPGRIP1L Health Risk Pathogenic —
RS777459332 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS777459404 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777459947 MTR Health Risk Pathogenic —
RS777459994 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS777460436 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS777460475 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS777460645 ROBO1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS777460677 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS777460754 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS777461721 AR Health Risk Conflicting classifications of pathogenicity Prostate cancer, Kennedy disease
RS777461875 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS777462101 IGSF1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS777462669 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL10A1-related disorder
RS777463099 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS777464278 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS777464599 SLC4A1 Health Risk Conflicting classifications of pathogenicity Cryohydrocytosis, Cryohydrocytosis
RS777465132 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome
RS777465480 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS777466193 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777466821 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS777469885 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS777471441 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS777471630 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS777472799 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS777475388 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS777475406 RP1L1 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS777476179 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Visual impairment
RS777477439 ANK2 Health Risk Conflicting classifications of pathogenicity Oligosynaptic infertility, Acromesomelic dysplasia 2B
RS777477467 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS777477661 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS777478613 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS777479105 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS777479133 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS777479274 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS777479928 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS777480064 ITGA3 Health Risk Likely pathogenic ITGA3-related disorder, ITGA3-related disorder
RS777480754 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS777482147 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS777482709 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS777482882 AR Health Risk Conflicting classifications of pathogenicity Kennedy disease, Androgen resistance syndrome
RS777482895 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS777483675 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS777483750 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777483913 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS777483971 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Lymphoma
RS777484049 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS777486607 SHH Health Risk Likely pathogenic Autism, Autism
RS777486993 PROC Health Risk Likely pathogenic Deep venous thrombosis, Thrombophilia due to protein C deficiency
RS777487611 SENP7 Health Risk Likely pathogenic arthrogryposis multiplex congenita with neutropenia and early respiratory failure, arthrogryposis multiplex congenita with neutropenia and early respiratory failure
RS777487971 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS777488098 CCDC88C Health Risk Pathogenic Spinocerebellar ataxia type 40, Spinocerebellar ataxia type 40
RS777488795 TYK2 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS777488974 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS777489323 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS777489488 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777489742 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS777489939 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS777490835 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS777491507 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS777492254 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS777492549 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS777494204 C2CD3 Health Risk Likely pathogenic —
RS777494547 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS777494767 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS777495096 COL4A3 Health Risk Likely pathogenic —
RS777495880 C8A Health Risk Pathogenic —
RS777496833 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS777496872 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777497235 DARS1 Health Risk Conflicting classifications of pathogenicity Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS777497745 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS777497868 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy
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