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
RS1334947797 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1334949550 NAGLU Health Risk Likely pathogenic —
RS1334951339 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1334955221 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1334961999 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS1334966870 HBB Health Risk Conflicting classifications of pathogenicity —
RS1334969117 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1334973313 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1334974448 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1334975553 POLG2 Health Risk Pathogenic —
RS1334986893 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1335019385 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1335022 GRIK2 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS1335028282 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1335036396 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1335050702 COL18A1 Health Risk Pathogenic —
RS1335054266 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1335055740 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1335060938 RNF13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 73
RS1335063379 THOC6 Health Risk Likely pathogenic —
RS1335076773 WFS1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS1335078305 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS1335120510 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1335126943 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia
RS1335130331 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS1335137805 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1335145792 MECR Health Risk Pathogenic —
RS1335168882 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS1335171880 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS1335196025 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1335209785 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1335215379 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS1335267315 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1335300113 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1335307553 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1335308693 WFS1 Health Risk Pathogenic/Likely pathogenic —
RS1335324642 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS1335327546 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1335330614 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1335342521 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1335346154 VPS53 Health Risk Likely pathogenic —
RS1335347265 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1335352747 SLC38A8 Health Risk Pathogenic —
RS1335386227 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAI1-related disorder
RS1335391766 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1335397957 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1335401362 NDUFS7 Health Risk Likely pathogenic —
RS1335405008 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1335410914 KCNN2 Health Risk Conflicting classifications of pathogenicity KCNN2-related disorder, Dystonia 34
RS1335417539 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS13354324 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1335486327 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1335486803 RSRC1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 70
RS1335539930 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1335556134 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS1335558363 GNA11 Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2
RS1335572575 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1335595318 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1335601482 SLC12A3 Health Risk Pathogenic —
RS1335606950 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1335609772 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1335615080 CACNA1F Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Congenital stationary night blindness 2A
RS1335619157 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1335627502 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1335664006 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1335664604 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1335665224 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1335666832 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1335685844 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1335699710 POLR1C Health Risk Pathogenic Treacher Collins syndrome 3, Treacher Collins syndrome 3
RS1335712213 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1335718486 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1335731178 DHTKD1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, Charcot-Marie-Tooth disease axonal type 2Q
RS1335735639 TSPAN12 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1335752004 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1335758022 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS1335776131 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1335777232 EBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MEND syndrome
RS1335782281 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1335796595 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS1335796666 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS1335804396 AP4S1 Health Risk Likely pathogenic Inborn genetic diseases, Spastic paraplegia
RS1335874945 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS1335880349 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Mitochondrial disease
RS1335897946 PALB2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1335908921 LTBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1335922101 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS1335923152 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1335931206 ARSL Health Risk Pathogenic Chondrodysplasia punctata, brachytelephalangic
RS1335934380 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS13359508 SPARC Health Risk Conflicting classifications of pathogenicity SPARC-related disorder, Inborn genetic diseases
RS1335967859 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1335985800 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1336014764 SLCO2A1 Health Risk Pathogenic —
RS1336014812 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1336022942 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1336033143 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1336053002 NEB Health Risk Pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1336081746 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cholestanol storage disease
RS1336100636 ACSL5 Health Risk Pathogenic Diarrhea 13, Diarrhea 13
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