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
RS1198459012 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS1198472093 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1198479657 TRRAP Health Risk Conflicting classifications of pathogenicity Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1198491194 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1198503871 MBD4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1198504900 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1198513897 ERCC8 Health Risk Pathogenic —
RS1198533642 LOXHD1 Health Risk Pathogenic —
RS1198548214 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1198548955 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1198604369 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS1198614767 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1198621190 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1198671446 FECH Health Risk Pathogenic/Likely pathogenic Protoporphyria, erythropoietic
RS1198682781 TTN Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1198691735 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1198699106 GLI3 Health Risk Likely pathogenic Postaxial polydactyly type B, Postaxial polydactyly type A
RS1198703773 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1198705438 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1198710710 CDC42BPB Health Risk Conflicting classifications of pathogenicity CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1198717023 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS1198764997 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1198775988 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS1198795075 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1198803613 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS1198815779 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS1198819132 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1198819911 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1198829221 IFNAR1 Health Risk Likely pathogenic —
RS1198834556 MVK Health Risk Likely pathogenic Mevalonic aciduria, Mevalonic aciduria
RS1198837162 COL4A4 Health Risk Pathogenic —
RS1198846361 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS1198867920 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1198932029 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS1198947358 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1198947482 LOXHD1 Health Risk Pathogenic —
RS1198947705 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1198953814 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1198975553 COL4A3 Health Risk Pathogenic —
RS1198993903 ACE Health Risk Pathogenic/Likely pathogenic Congenital anomaly of kidney and urinary tract, Renal tubular dysgenesis
RS1199008500 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1199012623 MYO7A Health Risk Pathogenic Usher syndrome, Hearing loss
RS1199013401 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1199013619 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1199019362 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1199044872 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1199089543 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease recessive intermediate C
RS1199090828 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS11990994 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1199116344 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS1199136734 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1199136998 TTN Health Risk Pathogenic —
RS1199158051 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1199192203 MYO15A Health Risk Pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 3
RS1199193462 TMPRSS6 Health Risk Pathogenic —
RS1199222144 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1199224400 SCO1 Health Risk Pathogenic —
RS1199226176 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1199237900 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS1199238856 CYP7B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1199247059 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1199257823 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS1199275720 ITGB3 Health Risk Pathogenic Abnormal bleeding, Glanzmann thrombasthenia
RS1199283977 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1199304403 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS1199305584 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS1199316807 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1199326518 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1199327421 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1199331007 SMN1 Health Risk Pathogenic Spinal muscular atrophy, type II
RS1199337390 PRX Health Risk Likely pathogenic —
RS1199369770 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1199378574 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS1199379236 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS1199404507 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1199412903 SCN3A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62
RS1199421806 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1199433297 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1199489242 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1199495614 SMAD6 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis, Aortic valve disease 2
RS1199497563 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1199523512 ACAD9 Health Risk Likely pathogenic —
RS1199523766 PCDH12 Health Risk Pathogenic Diencephalic-mesencephalic junction dysplasia, Diencephalic-mesencephalic junction dysplasia
RS1199524458 FBN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1199530060 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hemochromatosis type 1
RS1199532471 CARMIL2 Health Risk Pathogenic —
RS1199538371 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1199542196 EIF2AK4 Health Risk Pathogenic —
RS1199544303 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1199553512 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1199567737 VPS13A Health Risk Pathogenic —
RS1199575794 LRIG2 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS1199577809 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1199591337 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1199598914 ADGRV1 Health Risk Pathogenic —
RS1199611247 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1199616569 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1199625391 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1199634064 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1199639828 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
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