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
RS767797830 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, SACS-related disorder
RS767798272 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS767799179 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS767799742 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS767799831 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Seizures
RS767801148 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS767802430 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS767802942 EXT2 Health Risk Pathogenic Exostoses, multiple
RS767803536 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767805288 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS767805554 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS767805559 SKIC3 Health Risk Pathogenic —
RS767805597 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS767805817 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS767807136 THSD4 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 12
RS767808030 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767809848 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767810437 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS767811568 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS767811987 POLE Health Risk Conflicting classifications of pathogenicity —
RS767814649 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS767815241 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS767815914 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS767816220 MYO15A Health Risk Likely pathogenic —
RS767816225 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS767817521 CDKL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS767818298 MPV17 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS767818359 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS767819417 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS767819594 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, Nephronophthisis
RS767820058 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS767820132 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS767820925 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Spastic ataxia 2
RS767821181 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS767821521 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS767822322 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS767822498 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS767822693 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS767822847 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767824722 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767826322 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767826365 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS767827357 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS767827881 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Lymphatic malformation 7
RS767828019 ACE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microvascular complications of diabetes
RS767828150 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS767828388 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS767828696 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS767829190 ABCA5 Health Risk Likely pathogenic Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome
RS767829342 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS767829363 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS767829750 DMRT1 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
RS767830005 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767830097 GABRB3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767830843 MAK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS767831048 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS767831472 PIGB Health Risk Likely pathogenic —
RS767831585 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767832452 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS767832540 GIMAP6 Health Risk Likely pathogenic Primary Immune Deficiency, Primary Immune Deficiency
RS767832658 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS767832980 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS767833468 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS767833852 CDK10 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS767833951 NACC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767834681 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS767834829 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS767834988 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS767835537 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, Inborn genetic diseases
RS767835921 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS767836397 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767836990 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS767837153 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS767837705 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767838400 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS767839536 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS767839540 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767839639 COQ4 Health Risk Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS767840321 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS767841325 MME Health Risk Conflicting classifications of pathogenicity —
RS767841898 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS767842373 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 1, RAB3GAP1-related disorder
RS767842462 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS76784312 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS767845062 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS767846303 NR1H4 Health Risk Pathogenic —
RS767846762 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS767847163 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS767847211 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS767847479 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS767848974 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS767849509 PIGG Health Risk Pathogenic —
RS767849841 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS767849877 SKIC3 Health Risk Likely pathogenic —
RS767850408 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, ENG-related disorder
RS767850637 EIF2B4 Health Risk Pathogenic —
RS767851553 MGME1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767851663 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS767852518 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS767853104 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
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