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
RS150021927 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS150022116 C8B Health Risk Conflicting classifications of pathogenicity Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS150022335 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS150023454 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS150024227 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS150024239 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS150026024 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS150026260 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS150027118 ENTREP1 Health Risk Conflicting classifications of pathogenicity —
RS150027138 FZD2 Health Risk Conflicting classifications of pathogenicity FZD2-related disorder, FZD2-related disorder
RS150028343 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS150029218 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150029305 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS150029980 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150030912 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150030986 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS150032027 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS150032060 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS150032325 RBCK1 Health Risk Conflicting classifications of pathogenicity Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS150032875 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS150033153 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS150033567 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS150033580 TRPC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 2
RS150033933 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS150033934 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS150034487 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases
RS150034611 EBP Health Risk Conflicting classifications of pathogenicity —
RS150036236 EGFR Health Risk Conflicting classifications of pathogenicity Squamous cell lung carcinoma, Lung adenocarcinoma
RS150036969 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS150037063 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS150037117 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS150038447 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases
RS150038620 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS150038701 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS150039184 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150039342 TRPM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intestinal hypomagnesemia 1
RS150040573 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS150040675 DHX32 Health Risk Conflicting classifications of pathogenicity —
RS150043310 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS150043707 TRMU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150045137 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS150045306 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS150046042 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS150046431 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS150046458 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS150046661 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS150046934 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS150046963 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150047440 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS150048651 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS150050027 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS150050864 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150051278 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS150051547 CAV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis
RS150052125 FKBP10 Health Risk Conflicting classifications of pathogenicity —
RS150052821 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS150054973 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS150055188 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS150055466 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS150055592 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS150057026 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS150057646 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS150058137 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, See cases
RS150059660 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150060240 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS150061926 SERPINH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150062050 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Intellectual disability
RS150062167 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150065311 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS150065567 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150066950 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS150068594 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS150069331 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS150069819 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS150069992 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS150070091 OTOF Health Risk Conflicting classifications of pathogenicity —
RS150070697 SAMD9L Health Risk Conflicting classifications of pathogenicity Monosomy 7 myelodysplasia and leukemia syndrome 1, Ataxia-pancytopenia syndrome
RS150070966 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS150071733 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 7
RS150072133 FKBP10 Health Risk Pathogenic —
RS150072383 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS150074056 FUT1 Health Risk Pathogenic Para-Bombay phenotype, Para-Bombay phenotype
RS150075575 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS150075737 GHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150075979 GJB6 Health Risk Conflicting classifications of pathogenicity Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A
RS150076443 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150077670 VWF Health Risk Conflicting classifications of pathogenicity VWF-related disorder, VWF-related disorder
RS150077703 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS150077735 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS150078153 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS150079799 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS150080314 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS150080663 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS150080742 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS150082469 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS150082508 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS150082953 MARS2 Health Risk Conflicting classifications of pathogenicity —
RS150083065 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150084275 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS150084635 OPHN1 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 732 733 734 735 736 737 738 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →