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
RS74503862 NRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NRIP1-related disorder
RS74508995 KCNE1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
RS74516571 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS74517001 UNC80 Health Risk Pathogenic UNC80-related disorder, UNC80-related disorder
RS74518351 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS745305837 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS745305844 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745305932 SLC25A3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS745306528 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745307359 RAD51D Health Risk Conflicting classifications of pathogenicity Breast and/or ovarian cancer, Breast-ovarian cancer
RS745308120 NRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745308973 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia
RS745310138 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS745312507 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745312608 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS745313320 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 46, Retinitis pigmentosa 46
RS745313899 PRSS37 Health Risk Conflicting classifications of pathogenicity —
RS745314195 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS745316066 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS745318365 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS745319034 SLC7A9 Health Risk Pathogenic Cystinuria, SLC7A9-related disorder
RS745319635 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS745319720 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS745320719 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS745320775 LCAT Health Risk Likely pathogenic Norum disease, Norum disease
RS745321705 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS745322502 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS745323281 TTN Health Risk Conflicting classifications of pathogenicity —
RS745323298 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS745324562 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS745324944 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS745325616 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS745325916 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Treacher Collins syndrome 3
RS745325958 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Trigonocephaly 1
RS745327566 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS745327620 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS745327804 RXYLT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745328476 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS745328900 USH1G Health Risk Pathogenic —
RS745329674 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS745331190 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS745332456 NDUFAF8 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS745333246 MYT1L Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual disability
RS745333409 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS745333667 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS745334317 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS745334373 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS745337023 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS745337140 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS745337448 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS745337581 MAN1B1 Health Risk Pathogenic/Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS745337805 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS745338204 HSPG2 Health Risk Pathogenic/Likely pathogenic —
RS745338278 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS745338284 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS745339673 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS745340459 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS745341246 TRPM1 Health Risk Likely pathogenic —
RS745341953 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS745342141 NUP107 Health Risk Pathogenic Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 7
RS745342273 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS745342391 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS745343484 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS745343524 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS745343884 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS745344342 DSPP Health Risk Conflicting classifications of pathogenicity —
RS745345009 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS745346171 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS745348188 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS745348393 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS745348555 CRB1 Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 8
RS745349011 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745349258 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS745349945 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS745350407 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS745351097 NUBPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745352764 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS74535389 ADCY1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 44, Inborn genetic diseases
RS745354512 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS74535574 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Neoplasm
RS745355767 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS745356934 NOG Health Risk Pathogenic Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS745357523 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS745358717 CYP21A2 Health Risk Conflicting classifications of pathogenicity CYP21A2-related disorder, ADRENAL HYPERPLASIA
RS745358946 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS745359242 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745360675 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS745361070 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS745361721 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745363589 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS745363984 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Inborn genetic diseases
RS745364489 BCHE Health Risk Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase, BCHE-related disorder
RS745365163 TTN Health Risk Conflicting classifications of pathogenicity —
RS745365232 CTNS Health Risk Pathogenic Nephropathic cystinosis, Cystinosis
RS745366046 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS745366278 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS745366624 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS745366999 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS745367639 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS745368359 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
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