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
RS766521030 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, XYLT1-related disorder
RS766521182 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS766522109 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766522434 FYCO1 Health Risk Likely pathogenic Cataract 18, Cataract 18
RS766524048 PPM1D Health Risk Pathogenic —
RS766524637 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis
RS766525712 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS766527083 MAK Health Risk Likely pathogenic —
RS766527634 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS766528289 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS766529852 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS766530086 CARD9 Health Risk Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS766530579 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS766531368 PTPN11 Health Risk Uncertain significance; risk factor Werner syndrome, RASopathy
RS766532148 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS766532363 TNFRSF6B Health Risk Conflicting classifications of pathogenicity —
RS766533641 ADGRG1 Health Risk Pathogenic —
RS766533795 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS766533982 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS766535034 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS766536002 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS766536174 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS766536350 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease IIIa
RS766536479 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome, Crigler-Najjar syndrome
RS766538692 POLE Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS766538754 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS766539394 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS766539773 FRAS1 Health Risk Pathogenic Renal agenesis, Renal agenesis
RS766539793 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766540386 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS766540875 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis et pupillae, Ectopia lentis 2
RS766541549 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS766541647 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS766541836 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS766541944 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS766541995 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS766542090 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS766542823 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS766543331 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS766543419 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS766543785 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS766544188 MYO15A Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS766545577 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
RS766545876 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS766546584 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS766547457 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766547643 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS766548165 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS766548696 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS766549271 KCNV2 Health Risk Conflicting classifications of pathogenicity —
RS766550724 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS766551395 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS766551411 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS766553671 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS766553685 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS766553845 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS766555082 IL7R Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS766555353 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS766555879 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS76655666 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS766556930 GPSM2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS766557412 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766557450 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766558667 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS766559629 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS766560578 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS766560974 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS766561921 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
RS766562951 HNRNPK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766563354 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS766564988 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, OTOGL-related disorder
RS766565506 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766565738 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS766567785 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS766567944 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS766568333 KIZ Health Risk Pathogenic Retinitis pigmentosa 69, Retinitis pigmentosa 69
RS766569322 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS766569890 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS766570103 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS766570903 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS766571996 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS766572502 ARMC9 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 30, Joubert syndrome 30
RS766572560 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS766572561 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS766573431 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS766573679 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS766574538 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS76657474 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder
RS766574778 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis
RS766574854 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS766574975 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS766574999 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS766575263 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS766575601 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS766575963 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder
RS766576144 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS766576246 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS766577671 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS766579880 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS766580034 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
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