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
RS756390450 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS756390955 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS756391068 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS75639119 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756392442 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS756393096 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS756393374 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756394364 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS756394857 GTPBP3 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS756395915 ATP8B1 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1
RS756396172 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type I, Atelosteogenesis type I
RS756396993 TTC7A Health Risk Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS756398214 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756398627 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756398636 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS756399499 CORIN Health Risk Pathogenic Atrial fibrillation, Cardiomyopathy
RS756399613 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS756400234 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS756401086 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756402483 TCTN1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS756402556 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, PCDH15-related disorder
RS756403702 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS756405261 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS756405444 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS756406920 ARSG Health Risk Pathogenic —
RS756407279 RDX Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS756407851 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS756408696 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS756410019 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS756411505 ALPK3 Health Risk Pathogenic —
RS756411508 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS756413692 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS756414069 PEPD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756414393 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS756414485 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS756414548 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS756414710 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS756416171 CPLANE1 Health Risk Pathogenic —
RS756418235 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS756418963 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS756419208 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS756419434 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS756419705 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS756420203 ERCC5 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum
RS756420276 MADD Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies, impaired speech
RS756420301 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS756420413 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS756420858 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756421370 MECR Health Risk Pathogenic/Likely pathogenic Dystonia, childhood-onset
RS756423026 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS756423093 KIZ Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS756423843 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS756424912 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS756427418 MAN2C1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
RS756427983 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS756429763 WIPI2 Health Risk Pathogenic Intellectual developmental disorder with short stature and variable skeletal anomalies, Intellectual developmental disorder with short stature and variable skeletal anomalies
RS756430359 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 2
RS756431692 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS756432435 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS756432794 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS756432879 LAMC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid cancer
RS756433029 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756433074 HPS1 Health Risk Pathogenic —
RS756433832 HADHA Health Risk Likely pathogenic —
RS756433996 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS756434709 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS756434860 RECQL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756434927 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS756435344 CPLANE1 Health Risk Likely pathogenic —
RS756435572 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS756436580 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS756437332 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS756437904 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756438139 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS756440792 MCOLN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucolipidosis type IV
RS756442272 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS756442818 NDUFAF7 Health Risk Conflicting classifications of pathogenicity —
RS756443059 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS756444637 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS756444933 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS756446204 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS756446770 TTN Health Risk Conflicting classifications of pathogenicity —
RS756447715 CARMIL2 Health Risk Pathogenic —
RS756448158 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS756448789 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS756449511 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS756449736 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS756449737 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS756449782 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS756450018 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS756450204 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS756450772 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS756451802 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS756452107 CD2AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756453245 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS756454038 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS756455049 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS756455152 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756455658 CDON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 11
RS7564566 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 1, Warburg micro syndrome 1
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