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
RS1236246272 CDK19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 87
RS1236264934 TACR3;TACR3-AS1 Health Risk Pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS1236277028 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1236278956 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1236282149 SUCO Health Risk Conflicting classifications of pathogenicity —
RS1236287516 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1236291370 PDE6C Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PDE6C-related disorder
RS1236292404 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1236304133 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1236342555 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1236367931 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1236369546 COL13A1 Health Risk Likely pathogenic —
RS1236387839 NEU1 Health Risk Conflicting classifications of pathogenicity —
RS1236392229 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1236405535 UBTF Health Risk Likely pathogenic —
RS1236419449 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1236436555 MITF Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2, Tietz syndrome
RS1236442873 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS1236457610 CEP135 Health Risk Likely pathogenic Microcephaly 8, primary
RS1236459366 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1236459969 DNAAF4 Health Risk Pathogenic —
RS1236464864 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1236469336 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1236506833 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1236537482 EYS Health Risk Pathogenic/Likely pathogenic —
RS1236550448 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1236557685 C3 Health Risk Conflicting classifications of pathogenicity —
RS1236564978 LAMA1 Health Risk Pathogenic —
RS1236566474 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1236588751 HSPG2 Health Risk Pathogenic —
RS1236590521 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1236592830 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1236597304 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1236600542 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1236604706 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1236613475 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1236647498 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1236651659 VPS13A Health Risk Pathogenic —
RS1236669456 AKR1D1 Health Risk Pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS1236687801 RPGRIP1L Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1236695233 CEP152 Health Risk Pathogenic —
RS1236696892 SPTA1 Health Risk Pathogenic —
RS1236699193 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1236699656 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1236702036 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Intellectual disability
RS1236715896 ADGRV1 Health Risk Pathogenic ADGRV1-related disorder, Febrile seizures
RS1236737877 KCND2 Health Risk Pathogenic Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS1236751268 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1236752415 ADGRV1 Health Risk Pathogenic —
RS1236769724 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS1236771486 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1236797387 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1236798408 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1236852017 SLC6A19 Health Risk Pathogenic/Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS1236879367 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1236883845 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS1236887089 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1236922680 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1236949666 ANO10 Health Risk Pathogenic/Likely pathogenic —
RS1236954722 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1236962991 LBR Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1236982860 NEU1 Health Risk Pathogenic —
RS1236992554 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1237013776 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1237016251 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1237032588 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1237049560 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1237070816 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1237086797 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS1237092252 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1237093879 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1237120625 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1237125868 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1237164123 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS1237165748 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1237175697 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1237194366 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1237212288 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1237217031 SOX10 Health Risk Likely pathogenic —
RS1237221320 ACTA1 Health Risk Pathogenic Congenital myopathy 2b, severe infantile
RS1237224833 SLX4 Health Risk Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS1237230298 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS1237252052 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS1237260493 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1237263305 TULP1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 14
RS1237270916 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1237271536 TTC21B;TTC21B-AS1 Health Risk Likely pathogenic —
RS1237274947 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS1237278944 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1237311934 ODAD2 Health Risk Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1237315874 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1237333884 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS1237367300 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1237376396 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 4
RS1237384577 IKBKG Health Risk Pathogenic —
RS1237394833 COL17A1 Health Risk Pathogenic/Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS1237398609 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS1237399626 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS1237408873 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1237409974 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
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