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
RS1449198328 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1449199195 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS144919978 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS144920839 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS144921184 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS144921426 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases
RS1449216377 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, GTP cyclohydrolase I deficiency with hyperphenylalaninemia
RS144922340 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS144922355 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144922840 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1449232218 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Inborn genetic diseases
RS144923278 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144923639 PDGFRB Health Risk Conflicting classifications of pathogenicity PDGFRB-related disorder, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS144924248 GDF5 Health Risk Conflicting classifications of pathogenicity Multiple synostoses syndrome 2, Acromesomelic dysplasia 2C
RS1449250083 SIGMAR1 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS144925325 FGF23 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis
RS1449256750 USH1C Health Risk Pathogenic —
RS144925893 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1449262096 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS144926293 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS144926928 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1449269582 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS144926997 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder
RS1449274241 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1449286135 ADGRV1 Health Risk Pathogenic —
RS144928920 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144929293 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1449300685 SLC40A1 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS144930507 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS144931111 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS1449315408 TTN Health Risk Conflicting classifications of pathogenicity —
RS144931729 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
RS144933028 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS144933467 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS1449334786 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS144933639 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS144934076 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS144934213 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS1449351306 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 3
RS1449351602 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS144935285 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS144935367 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS144935862 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1449359018 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS144935927 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS144935943 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS144936138 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS144936357 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1449365696 HNF1B Health Risk Pathogenic —
RS144936899 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS144937031 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS144937234 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS144937332 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS144937515 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS144938364 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS1449387690 TBCD Health Risk Pathogenic —
RS144938780 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS144938800 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS144939151 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS144939909 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS1449400618 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS144941693 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS144941725 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS1449418628 APOL1 Health Risk Conflicting classifications of pathogenicity —
RS1449423249 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS144942544 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS144942685 REEP6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS144942741 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS144942998 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS144943251 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS1449433208 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS144943762 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS144944366 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS1449444164 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1449447538 CEP152 Health Risk Pathogenic —
RS144944758 PADI3 Health Risk Pathogenic Uncombable hair syndrome 1, Uncombable hair syndrome 1
RS144944814 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1449454752 NPHP4 Health Risk Likely pathogenic —
RS1449457260 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1449458592 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS144946574 GATAD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144946631 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS144947653 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS144948296 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness
RS144948513 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1449487575 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS144949095 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1449497761 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS144949902 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS144950610 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS144951440 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS144951661 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS144952478 DTHD1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS144953114 RAD21 Health Risk Conflicting classifications of pathogenicity Mungan syndrome, Cornelia de Lange syndrome 4
RS1449536422 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1449542511 OTOG Health Risk Likely pathogenic —
RS1449545218 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1449546916 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS1449554570 TRIM37 Health Risk Pathogenic —
RS144957238 TNNT3 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 612 613 614 615 616 617 618 ... 4509 Next »

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

Get Started Free →