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
RS767156606 PYGL Health Risk Likely pathogenic —
RS767156788 SLC25A38 Health Risk Pathogenic SLC25A38-related disorder, SLC25A38-related disorder
RS76715876 TTC29 Health Risk Pathogenic —
RS767159114 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS767159555 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS767159890 SI Health Risk Likely pathogenic —
RS767161351 CP Health Risk Likely pathogenic —
RS767162047 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS767162403 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS767162951 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS767163478 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767164213 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS767164240 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS767165458 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS767165466 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Tobacco addiction
RS767166725 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS767167623 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS767168755 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS767169568 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS767171313 SON Health Risk Conflicting classifications of pathogenicity —
RS767171610 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS767172013 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS767172334 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain
RS767172575 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS767174204 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS767174517 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS767174569 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS767175342 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia
RS767175703 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS767176038 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS767176610 CDK10 Health Risk Pathogenic/Likely pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS767177596 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS767177754 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS767178143 LAMA3 Health Risk Pathogenic —
RS767178508 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
RS767180208 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767180578 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS767180827 MRPL12 Health Risk Conflicting classifications of pathogenicity —
RS767181564 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS767181570 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS767182132 OCA2 Health Risk Conflicting classifications of pathogenicity OCA2-related disorder, Tyrosinase-positive oculocutaneous albinism
RS767182713 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS767182886 COL7A1 Health Risk Pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive
RS767185543 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS767186464 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS767188723 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS767188967 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS767189501 RAB3GAP2 Health Risk Pathogenic —
RS767191161 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS767191322 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS767192545 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS767192965 CFAP298 Health Risk Pathogenic —
RS767193357 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease, Bilateral parasagittal parieto-occipital polymicrogyria
RS767194693 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Autosomal recessive Alport syndrome
RS767195767 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS767195857 TAPBP Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, Malignant tumor of urinary bladder
RS767195999 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS767196276 DNAH1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS767196650 POLR1D Health Risk Likely pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS767196975 CETP Health Risk Conflicting classifications of pathogenicity —
RS767197048 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, ABHD5-related disorder
RS76719766 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS767197919 TBX5 Health Risk Pathogenic/Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS767198410 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acute myeloid leukemia
RS767198562 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS767198666 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS767199033 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS767199154 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS767199598 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767200163 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS767200188 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS767200583 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS767201131 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS767201867 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS767204829 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS767205350 MYH14 Health Risk Pathogenic —
RS767205402 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS767206815 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Short rib-polydactyly syndrome, Jeune thoracic dystrophy
RS767207007 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS767207643 LIPA Health Risk Pathogenic Wolman disease, Lysosomal acid lipase deficiency
RS767207985 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767208122 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767208318 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS767209477 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS767209934 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome
RS767210188 CWC27 Health Risk Likely pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Familial pancreatic carcinoma
RS767210448 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS767210575 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS767210715 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767212006 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS767212051 NEMF Health Risk Pathogenic —
RS767213195 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa
RS767213728 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS767214353 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS767215758 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS767216957 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767217536 OTUD6B Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS767217821 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS767218895 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS767218921 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
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