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
RS752243337 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS752243349 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS752243771 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome
RS752245195 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS752245649 SLC30A9 Health Risk Pathogenic/Likely pathogenic Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Inborn genetic diseases
RS752246983 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS752247255 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS752248403 KIF7 Health Risk Pathogenic Hydrolethalus syndrome 2, Acrocallosal syndrome
RS752248694 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS752250585 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS752251563 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases
RS752251570 GFM1 Health Risk Conflicting classifications of pathogenicity Relative macrocephaly, Developmental regression
RS75225191 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS752252343 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS752252704 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS752254340 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS752254407 CCDC8 Health Risk Likely pathogenic 3M syndrome 3, 3M syndrome 3
RS752254456 ABHD12 Health Risk Likely pathogenic —
RS752254977 SLC6A5 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS752255369 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS752255394 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752255602 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS752255874 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS752255985 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS752256846 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS752257333 SPG7 Health Risk Conflicting classifications of pathogenicity SPG7-related disorder, Hereditary spastic paraplegia 7
RS752257485 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS752257711 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS752258317 FOXP1 Health Risk Pathogenic —
RS752259110 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS752260329 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS752261543 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS752262787 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS752263134 ASXL1 Health Risk Pathogenic ASXL1-related disorder, ASXL1-related disorder
RS752263228 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Retinal dystrophy
RS752263234 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS752264096 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS752264287 NBAS Health Risk Pathogenic —
RS752264795 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS752266252 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS752266635 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752267053 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS752267460 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS752267876 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS752268571 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752268870 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS752268889 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCD2-related disorder
RS752268912 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS752269093 ODAD1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia
RS752269639 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS752269711 KYNU Health Risk Pathogenic Congenital NAD deficiency disorder, Congenital NAD deficiency disorder
RS752270672 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS752270974 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS752273313 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS752274190 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS752274299 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS752274547 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS752274637 GBA2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS752275123 EHHADH Health Risk Conflicting classifications of pathogenicity —
RS752275854 KDM1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752276281 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS752276378 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS752277081 COL7A1 Health Risk Likely pathogenic —
RS752277223 DLL3 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS752277936 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS752278049 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS752278683 EIF2B2 Health Risk Likely pathogenic Malignant tumor of esophagus, Leukoencephalopathy with vanishing white matter 2
RS752279222 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS752280961 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS752281590 ITPR1 Health Risk Conflicting classifications of pathogenicity Gillespie syndrome, Inborn genetic diseases
RS752282314 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FGD1-related disorder
RS752283089 ZFYVE26 Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS752284380 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752284551 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome
RS752285725 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752285938 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752286512 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS752287982 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS752288097 VSX2 Health Risk Pathogenic/Likely pathogenic Isolated microphthalmia 2, Microphthalmia
RS752289713 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS752289948 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS752290177 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS752292240 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Inborn genetic diseases
RS752292538 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Papillary renal cell carcinoma type 1
RS752294556 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS752296610 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS752297179 PYCR1 Health Risk Likely pathogenic Autosomal recessive cutis laxa type 2B, Wiedemann-Rautenstrauch-like progeroid syndrome
RS752298579 TANGO2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Acute rhabdomyolysis
RS752298916 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma
RS752298978 MRAS Health Risk Conflicting classifications of pathogenicity MRAS-related disorder, MRAS-related disorder
RS752299664 IPO8 Health Risk Pathogenic/Likely pathogenic IPO8 related Connective tissue disorder, VISS syndrome
RS752300035 PCNT Health Risk Pathogenic —
RS752300607 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Rod-cone dystrophy
RS752300778 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS752300879 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome
RS752301125 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS752302466 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS752302472 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS752303184 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752304678 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
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