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
RS35471036 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS35474657 AGTR2 Health Risk Conflicting classifications of pathogenicity AGTR2-related disorder, AGTR2-related disorder
RS35477349 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS35477594 C1QB Health Risk Conflicting classifications of pathogenicity C1Q deficiency, C1Q deficiency 2
RS35478147 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS35484557 BANK1 Health Risk Conflicting classifications of pathogenicity —
RS35485099 HBB Health Risk Pathogenic Hemoglobinopathy, Dominant beta-thalassemia
RS35486059 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS35490401 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Abnormal bleeding
RS35493001 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS35493987 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS35496654 MARVELD2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS35496669 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS35497102 HBB Health Risk Pathogenic beta Thalassemia, Beta zero thalassemia
RS35502109 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS35503975 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS35504388 NPAT Health Risk Conflicting classifications of pathogenicity —
RS35509268 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS35512910 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS35513449 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS35515200 F12 Health Risk Conflicting classifications of pathogenicity Factor XII deficiency disease, Hereditary angioedema type 3
RS35516286 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS35516512 UROC1 Health Risk Conflicting classifications of pathogenicity UROC1-related disorder, UROC1-related disorder
RS35517158 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS35517174 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS35518301 HBD Health Risk Pathogenic Delta-plus-thalassemia, Delta-plus-thalassemia
RS35519485 HBB Health Risk Likely pathogenic —
RS35520415 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS35520756 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS35521793 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS35523678 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, SPINK1-related disorder
RS35524919 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS35532010 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS35534614 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS35535012 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS35536751 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS35540155 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS35541310 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS35542850 GNRH1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 12 with or without anosmia, Ovarian serous cystadenocarcinoma
RS35546990 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS35547668 PHF3 Health Risk Conflicting classifications of pathogenicity —
RS35550482 ANKRD1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS35551271 TEX14 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Spermatogenic failure 23
RS35552856 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35554630 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS35555197 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS35555631 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS35560664 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS35562371 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS35566151 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS35573508 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Monogenic diabetes
RS35574083 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS35574094 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS35575612 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35575696 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS35575973 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS35576380 GNPTAB Health Risk Pathogenic Mucolipidosis, Mucolipidosis type II
RS35578002 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, beta Thalassemia
RS35578485 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, Obesity
RS35578748 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS35578968 TGM5 Health Risk Conflicting classifications of pathogenicity Acral peeling skin syndrome, TGM5-related disorder
RS35580653 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS35582308 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Inborn genetic diseases
RS35583475 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS35584294 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS35589326 MLKL Health Risk association Chronic multifocal osteomyelitis, Chronic multifocal osteomyelitis
RS35590297 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS35593767 CKAP2L Health Risk Conflicting classifications of pathogenicity —
RS35595680 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS35597782 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS35598314 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS35599167 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS35600253 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS35601148 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS35602350 TBX22 Health Risk Conflicting classifications of pathogenicity TBX22-related disorder, Cleft palate with or without ankyloglossia
RS35602796 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS35608448 SLF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35610053 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS35613389 HRAS;LRRC56 Health Risk Conflicting classifications of pathogenicity Costello syndrome, Congenital fibrosis of extraocular muscles
RS35614690 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS35615084 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS35617141 CALM3 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS35617833 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS35617911 HBG2 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS35619054 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35619497 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS35619688 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35621414 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35625882 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS35628 ABCC1 Health Risk association Familial cancer of breast, Familial cancer of breast
RS35629723 WDR36 Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Primary open angle glaucoma
RS35629870 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS35629953 ELP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 58
RS35630194 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Inborn genetic diseases
RS35633391 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, CNNM4-related disorder
RS35638832 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS35639991 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS35641267 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS35642130 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35642533 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, Inborn genetic diseases
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