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
RS1345404696 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1345405015 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1345407391 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Thyroid cancer
RS1345413118 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS1345460401 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1345463010 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1345463284 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1345467904 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1345480264 SCLT1 Health Risk Likely pathogenic —
RS1345480688 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder
RS1345487794 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1345500965 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1345505035 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1345508201 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1345535328 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS1345536541 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS1345538545 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS1345546964 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1345570966 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1345580310 MYO15A Health Risk Pathogenic Rare genetic deafness, Inborn genetic diseases
RS1345582722 CPOX Health Risk Likely pathogenic —
RS1345599468 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1345605443 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1345605596 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1345613057 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Joubert syndrome 5
RS1345625725 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1345626148 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1345661967 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1345668733 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1345677703 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1345683292 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS1345707985 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS1345709572 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1345709988 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS1345713239 COG6 Health Risk Pathogenic Inborn genetic diseases, COG6-congenital disorder of glycosylation
RS1345757357 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1345776426 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS1345810751 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1345813917 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1345816189 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1345848733 ATP7B Health Risk Likely pathogenic —
RS1345874407 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1345881154 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS1345924774 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1345926097 SMCHD1 Health Risk Pathogenic/Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1345926328 TMC1 Health Risk Pathogenic —
RS1345928305 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1345932256 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1345953797 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1345963992 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1345979642 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1345986424 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome, GLUT1 deficiency syndrome 1
RS1345994016 ABCC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability and myopathy syndrome, Hypertrichotic osteochondrodysplasia Cantu type
RS1345994179 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1346036017 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS1346037124 RCBTB1 Health Risk Pathogenic —
RS1346043320 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1346059141 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1346060761 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1346066490 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1346076883 NEB Health Risk Conflicting classifications of pathogenicity —
RS1346100329 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1346110970 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1346115955 BMPR1B Health Risk Conflicting classifications of pathogenicity Type A2 brachydactyly, Acromesomelic dysplasia 3
RS1346124437 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1346132011 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1346132592 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS1346138010 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS1346156899 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1346160987 PCDH15 Health Risk Pathogenic —
RS1346178132 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1346194464 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1346248530 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1346252146 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1346257891 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1346260747 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1346269262 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1346275404 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1346308311 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1346312258 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1346393896 EPCAM Health Risk Pathogenic/Likely pathogenic —
RS1346411637 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1346412801 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1346436537 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1346443930 ARMC9 Health Risk Pathogenic —
RS1346464839 RBP3 Health Risk Pathogenic —
RS1346497238 CWF19L1 Health Risk Likely pathogenic CWF19L1-related disorder, CWF19L1-related disorder
RS1346499882 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS1346505806 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1346517687 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1346543877 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1346551029 MAOA Health Risk Pathogenic; risk factor Autism, severe
RS1346551173 CUX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1346554177 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1346554630 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1346561117 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1346603171 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1346622497 NEFH Health Risk Conflicting classifications of pathogenicity —
RS1346638416 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1346649518 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
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