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
RS943875725 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS943893227 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS943924098 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS943939913 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, Hereditary cancer-predisposing syndrome
RS943943635 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS943952854 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS943958169 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS943965548 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS943979644 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS944013929 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS944029472 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS944032875 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS944083227 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS944152647 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS944211695 SIN3A Health Risk Conflicting classifications of pathogenicity —
RS944235493 IRAK4 Health Risk Likely pathogenic Immunodeficiency 67, Invasive pneumococcal disease
RS944263459 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS944284466 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS9443200 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS944335096 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS944343501 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS944413465 HNF1A Health Risk Conflicting classifications of pathogenicity Ovarian cancer, 6 conditions
RS944415019 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS944418938 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS944446438 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS944452644 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Anterior segment dysgenesis 6
RS944499155 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS944539388 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS944560685 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, PNPLA2-related disorder
RS944567230 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS944576125 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS944580031 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS944607375 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS944608317 DNMT3A Health Risk Pathogenic/Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS944626522 FRAS1 Health Risk Likely pathogenic —
RS944647296 DNAAF4 Health Risk Likely pathogenic —
RS944650989 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS944652890 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS944675223 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS944680171 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS944680882 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS944693159 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS944696965 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS944713270 ABCB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS944728845 TTN Health Risk Conflicting classifications of pathogenicity —
RS944730356 GDF1 Health Risk Conflicting classifications of pathogenicity —
RS944736912 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS944778197 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS944804641 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS944843686 HAMP Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2B, Hereditary hemochromatosis
RS944844493 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS944860201 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Inborn genetic diseases
RS9448884 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS944930983 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS944956263 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related disorder, PHIP-related disorder
RS944999468 KBTBD13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 6
RS945058783 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS945091158 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS945102665 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS945104524 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS945135468 LEPR Health Risk Pathogenic LEPR-related disorder, LEPR-related disorder
RS945136467 PRNP Health Risk Conflicting classifications of pathogenicity Inherited prion disease, Huntington disease-like 1
RS945181516 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS945207649 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Intellectual disability
RS945234297 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS945252214 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS945278904 ATP1A1 Health Risk Conflicting classifications of pathogenicity Hypomagnesemia, seizures
RS945304215 TUBGCP4 Health Risk Pathogenic —
RS945343783 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS945372017 NEU1 Health Risk Pathogenic Sialidosis, Sialidosis
RS945447694 CCDC88C Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS945470080 RAC3 Health Risk Likely pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
RS945481319 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS945517672 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS945537370 COG7 Health Risk Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS945554080 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4
RS945580226 C2 Health Risk Likely pathogenic —
RS945600680 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS945602962 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS945616168 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS945618655 C1QB Health Risk Conflicting classifications of pathogenicity C1Q deficiency 2, C1Q deficiency 2
RS945627261 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Seizures
RS945657254 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS945734402 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS945794101 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS945794813 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS945798509 TG Health Risk Likely pathogenic —
RS945866627 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS945869656 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS945869943 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS945880747 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS945959591 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS945997134 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS946006593 GATAD2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS946029100 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS946083212 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS946085339 GIPC3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS946088822 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS946096806 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS946108501 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
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