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
RS1438521511 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1438529897 CFH Health Risk Likely pathogenic —
RS143853128 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA1-related disorder
RS1438545679 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS143855597 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, NLRP12-related disorder
RS143855619 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1438566555 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS143856702 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS143857164 NDUFA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS143857602 ITGA6 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 6
RS1438576066 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1438576250 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS143857674 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS143858741 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1438588853 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS143858927 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS143859495 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS1438609866 SLC12A3 Health Risk Pathogenic —
RS143861538 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS143861818 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1438626607 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS143862988 TAC3 Health Risk Conflicting classifications of pathogenicity Delayed puberty, Infertility disorder
RS143863014 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS143863270 TNNI2 Health Risk Conflicting classifications of pathogenicity —
RS143863631 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Meckel syndrome
RS1438636453 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS1438645077 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS143865789 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS143865811 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1438673595 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1438679981 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS143868364 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS143868906 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Immunodeficiency 18
RS1438690757 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS143870330 HOXD10 Health Risk Conflicting classifications of pathogenicity Congenital vertical talus, Congenital vertical talus
RS143870522 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS143871421 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS143872440 DNAH17 Health Risk Conflicting classifications of pathogenicity DNAH17-related disorder, Inborn genetic diseases
RS143872998 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1438734382 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Retinitis pigmentosa 39
RS143873934 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS143874727 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Inborn genetic diseases
RS143875283 USP25 Health Risk Conflicting classifications of pathogenicity —
RS143875783 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1438758851 ADGRG1 Health Risk Likely pathogenic —
RS1438760537 CCR9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
RS143876748 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS143877028 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS1438773569 SZT2 Health Risk Pathogenic Cervical cancer, Cervical cancer
RS143877467 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS143877538 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS143877693 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS1438778988 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143877953 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS143878170 LRP5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1438782223 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1438790668 ADGRV1 Health Risk Pathogenic —
RS143879243 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1438792443 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1438809925 EIF2B4 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4
RS143882681 NFKB1 Health Risk Conflicting classifications of pathogenicity NFKB1-related disorder, NFKB1-related disorder
RS1438828232 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1438831421 PEX2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Peroxisome biogenesis disorder 5A (Zellweger)
RS143884041 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS1438842147 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143884319 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS143884981 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related disorder
RS1438851867 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1438851980 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143885355 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS143885868 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS143886167 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder
RS143886947 CLTC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1438874821 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1438888966 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1438890364 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1438895984 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS143889676 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS143889768 TCF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1438911242 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS143891262 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS143891279 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS143891379 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS143891457 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS143891879 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS143892062 CEP112 Health Risk Pathogenic Spermatogenic failure 44, Spermatogenic failure 44
RS143892088 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS143892218 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143892373 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1438933819 CBS Health Risk Pathogenic Classic homocystinuria, Classic homocystinuria
RS143893647 CFAP418 Health Risk Conflicting classifications of pathogenicity CFAP418-related disorder, CFAP418-related disorder
RS1438943270 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1438943849 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS143894913 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS143895116 ARMC2 Health Risk Conflicting classifications of pathogenicity ARMC2-related disorder, ARMC2-related disorder
RS143895253 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
RS143895379 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS143895635 MCMDC2 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS143895650 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS143896117 MYO3A Health Risk Pathogenic —
« Prev 1 ... 585 586 587 588 589 590 591 ... 4509 Next »

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

Get Started Free →