SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS910170157 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS910197266 RAB34 Health Risk Pathogenic Orofaciodigital syndrome 20, Orofaciodigital syndrome 20
RS910211860 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS910261729 SMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 3
RS910314734 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS910342423 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS910393433 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS910401729 GLYCTK Health Risk Conflicting classifications of pathogenicity D-Glyceric aciduria, D-Glyceric aciduria
RS910445814 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS910468710 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS910474236 PLEKHG5 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS910475358 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS910477617 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS910489135 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 12
RS910497248 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS910498188 ZNF341 Health Risk Likely pathogenic —
RS910498292 CASP2 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder
RS910513941 SCP2 Health Risk Pathogenic —
RS910542787 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS910550834 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
RS910555398 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS910566279 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS910572313 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS910609696 CEP250 Health Risk Likely pathogenic —
RS910635641 ATR Health Risk Likely pathogenic —
RS910650073 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS910656654 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS910676616 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS910678839 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS910710420 CNGA3 Health Risk Pathogenic —
RS910717989 NRP2 Health Risk Conflicting classifications of pathogenicity NRP2-related disorder, NRP2-related disorder
RS910772546 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS910779363 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS910801961 ANKRD26 Health Risk Likely pathogenic Thrombocytopenia 2, Thrombocytopenia 2
RS910803999 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS910898245 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS910905700 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS910919703 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS910928261 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS910956017 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS910986823 PPOX Health Risk Likely pathogenic —
RS911015463 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS911057284 MERTK Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS911127028 MTHFR Health Risk Pathogenic Neural tube defects, folate-sensitive
RS911132717 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS911181994 BCKDHB Health Risk Conflicting classifications of pathogenicity —
RS911190800 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS911230770 DMXL2 Health Risk Likely pathogenic —
RS911235059 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS911308708 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS911316159 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS911322619 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS911331923 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS911349930 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS911362591 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS911417327 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Centronuclear myopathy
RS911452920 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS911481295 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS911494100 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS911506580 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Hyperinsulinism due to glucokinase deficiency
RS911558545 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS911580078 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Cone-rod dystrophy 3
RS911589242 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS911589273 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS911600402 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS911625539 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS911630565 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS911645648 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS911670352 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS911696662 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS911700598 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS911707459 PIBF1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 33, Cephalocele
RS911713488 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS911722283 COL11A2 Health Risk Pathogenic/Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS911752926 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Inborn genetic diseases
RS911762606 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS911764681 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS911767401 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS911814791 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS911826883 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS911853347 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS911861220 GP6 Health Risk Likely pathogenic —
RS911870330 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS911877265 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS911934766 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS911937146 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS911977110 AXIN2 Health Risk Likely pathogenic AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis
RS911995391 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS912001256 SCN4A Health Risk Conflicting classifications of pathogenicity Myopathy, Severe neonatal hypotonia improving with age
RS912059800 BHLHA9 Health Risk Conflicting classifications of pathogenicity —
RS912066047 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS912069418 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Malignant tumor of urinary bladder
RS912107188 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Lung cancer
RS912110093 MESP2 Health Risk Likely pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS912110615 TFAP2A Health Risk Conflicting classifications of pathogenicity —
RS912133959 WARS2 Health Risk Pathogenic Neurodevelopmental disorder, mitochondrial
RS912147281 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS912159589 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS912174567 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS912203499 PPCS Health Risk Likely pathogenic Cardiomyopathy, dilated
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