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
RS765344513 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS765345575 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS765346043 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS765346218 GDAP1 Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS765346539 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS765347389 DSG2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS76534745 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS765347562 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS765347751 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS765348415 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS765348942 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS765349480 ADCY5 Health Risk Likely pathogenic —
RS765351308 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS765351669 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS765351696 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS765352313 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS765353150 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS765353265 HESX1 Health Risk Conflicting classifications of pathogenicity GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence
RS765353795 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS765353898 TDRD9 Health Risk Pathogenic Spermatogenic failure 30, Azoospermia
RS765354113 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS765354372 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765355046 DMD Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Duchenne muscular dystrophy
RS765355244 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS765355281 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS765356009 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS765356177 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS765357382 MYT1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765358771 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS765358773 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia
RS765359025 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS765359111 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS765360600 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS765360653 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS765361338 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS765361603 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS765361834 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS765361868 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS765361885 XPA Health Risk Pathogenic —
RS765362140 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS765362255 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS765362308 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS765362355 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS765363585 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765365713 ARID1B Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS765366351 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765366810 EPAS1 Health Risk Conflicting classifications of pathogenicity —
RS765367405 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS765367813 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS765367820 RCBTB1 Health Risk Pathogenic RCBTB1-related retinopathy, RCBTB1-related retinopathy
RS765367881 GNAT2 Health Risk Pathogenic —
RS765368797 HSPA9 Health Risk Pathogenic Even-plus syndrome, Even-plus syndrome
RS765368974 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Inborn genetic diseases
RS765369750 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS765369803 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS765370709 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765370870 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS765371196 PTCH1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Gorlin syndrome
RS765371462 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS765371601 SETX Health Risk Pathogenic/Likely pathogenic SETX-related disorder, Spinocerebellar ataxia
RS765371898 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS765373403 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS765373503 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS765373729 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS765374050 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS765374888 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS765375271 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS765375312 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
RS76537615 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hypothermia, RYR1-related disorder
RS765376630 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS765376986 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Retinal dystrophy
RS765377074 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS765377141 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS765377738 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS765378190 GTF2H5 Health Risk Likely pathogenic Trichothiodystrophy 3, photosensitive
RS765378243 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS76537883 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS765379481 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS765379963 TMCO1 Health Risk Pathogenic/Likely pathogenic Craniofacial dysmorphism, skeletal anomalies
RS765380141 PDE4D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765380155 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS765380273 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia, Stanescu type
RS765380383 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS765380976 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS765382079 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS765382139 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS765382317 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS765382334 SCNN1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765383904 ATF6 Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS765384489 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS765384591 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS765384642 PCDH15 Health Risk Pathogenic —
RS765385264 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Autosomal recessive bestrophinopathy
RS765386143 TRAF7 Health Risk Conflicting classifications of pathogenicity Cardiac, facial
RS765386646 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765387131 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS765387680 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS765387808 NFASC Health Risk Likely pathogenic Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS765388136 MYZAP Health Risk Likely pathogenic Cardiomyopathy, dilated
RS765388755 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
« Prev 1 ... 3444 3445 3446 3447 3448 3449 3450 ... 4509 Next »

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

Get Started Free →