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
RS376672665 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS376673439 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS376673920 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS376674482 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS376675180 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS376675521 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Orofacial cleft 1
RS376676607 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS376677576 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS376677710 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS376678620 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS376678876 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spinocerebellar ataxia
RS376678889 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS376679416 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS376679461 DYSF Health Risk Pathogenic/Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS376679623 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS376679817 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS376679847 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS376679880 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, ANKRD11-related disorder
RS376680832 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS376682480 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376682593 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS376683373 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS376683989 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS376684120 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, HPS6-related disorder
RS376684786 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS376685205 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS376685939 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS376685971 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Norum disease
RS3766870 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS376687300 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS376688581 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS376689092 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS376689238 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS376689351 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS376689763 ADGRV1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, ADGRV1-related disorder
RS376690008 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS376690099 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS376691515 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376692708 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS376692777 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS376693195 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS376694515 KIT Health Risk Conflicting classifications of pathogenicity Piebaldism, Gastrointestinal stromal tumor
RS376695367 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS376696627 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS376697478 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS376697724 SCN5A Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS376699648 TBCK Health Risk Pathogenic Hypotonia, infantile
RS376699725 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS376699772 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS376699778 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS376699949 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS376700480 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS376701259 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS376702277 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS376703034 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS376704588 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Bruck syndrome 2
RS376705356 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS376705938 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS376706496 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS376707680 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS376707835 SCN1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 1
RS376707969 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376708056 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS376708126 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS376708982 TNFRSF11B Health Risk Conflicting classifications of pathogenicity Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS376709130 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS376710012 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS376710410 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS376711003 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS376711015 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS376711125 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS376712059 TBC1D24 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, DOORS syndrome
RS376712636 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS376713095 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS376714139 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376714503 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS376715412 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS376715521 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS376715966 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376716008 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS376717256 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS376718324 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS376719104 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS376719320 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS376719475 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376719585 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376719872 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS376719984 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS376720108 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS376720228 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS376721381 FAM111A Health Risk Conflicting classifications of pathogenicity Skeletal dysplasia, Skeletal dysplasia
RS376722338 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS376722984 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS376723766 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS376725882 GLI3 Health Risk Conflicting classifications of pathogenicity Polysyndactyly 4, Greig cephalopolysyndactyly syndrome
RS376726422 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS376726966 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS376727038 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS376728021 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS376728138 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 2768 2769 2770 2771 2772 2773 2774 ... 4509 Next »

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

Get Started Free →