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
RS776115183 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS776115332 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776115471 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS776117741 CABP2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93
RS776117933 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS776118687 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS776119333 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS776119459 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS776119677 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS776119905 TMEM59 Health Risk risk factor Estrogen resistance syndrome, Estrogen resistance syndrome
RS776120444 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Inborn genetic diseases
RS776121704 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS776122485 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS776122644 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS776123178 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS776124003 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS776125498 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS776126973 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS776127077 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS776128914 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS77612903 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS776129117 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS776129172 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS776129797 HSF4 Health Risk Pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS776130043 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS776132010 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS776132505 PCARE Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS776133124 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776133530 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS776133610 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776133776 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS776134781 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS776136395 KIF26A Health Risk Pathogenic Cortical dysplasia, complex
RS776137955 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776138424 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS776140816 EIF2AK4 Health Risk Pathogenic/Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS776141268 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS776142807 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS776143384 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS776144262 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776146045 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS776146535 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS776146922 EPG5 Health Risk Pathogenic Vici syndrome, Inborn genetic diseases
RS776147216 COL18A1 Health Risk Likely pathogenic Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS776147775 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS776149260 USH1G Health Risk Pathogenic —
RS776149537 NAGA Health Risk Likely pathogenic —
RS776149698 SMAD2 Health Risk Pathogenic Loeys-Dietz syndrome, Loeys-Dietz syndrome
RS776150975 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS776151903 GPC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
RS776152870 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS776154213 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS776154605 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS776155094 WT1 Health Risk Conflicting classifications of pathogenicity Precursor B-cell acute lymphoblastic leukemia, Drash syndrome
RS776155729 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS776156806 TDRD9 Health Risk Pathogenic —
RS776156836 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS776157620 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776157698 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776157924 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS776158460 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS776158594 CHKB Health Risk Likely pathogenic —
RS776158881 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS776159012 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS776159564 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS776160961 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS776161059 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Shashi-Pena syndrome
RS776161185 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS776161817 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS776162259 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases
RS776165231 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS776165640 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS776167256 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS776167460 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS776167760 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS776169011 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS776170146 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776171302 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS776171893 LARS2 Health Risk Pathogenic Perrault syndrome 4, Perrault syndrome 4
RS776172237 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS776173406 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS776173660 MYO15A Health Risk Pathogenic/Likely pathogenic —
RS776173779 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776174514 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS776174711 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS776174898 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS776175164 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS776175685 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS776176679 DNAH8 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46
RS776176699 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS776176938 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS776178253 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS776178623 PAH Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Phenylketonuria
RS776179529 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS776180719 B3GLCT Health Risk Likely pathogenic See cases, See cases
RS776181081 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS776181190 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS776181500 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS776181718 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS776181852 CSTB Health Risk Conflicting classifications of pathogenicity Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
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