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
RS766106863 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS766107583 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS766107653 WDR62 Health Risk Likely pathogenic —
RS766108106 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS766108245 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS766109423 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766109950 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS766110518 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS766110936 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS766112074 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS766113743 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS766114323 CTSC Health Risk Pathogenic Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS766114836 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS766114944 AP3B2 Health Risk Conflicting classifications of pathogenicity —
RS766116144 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS766116662 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS766116729 PCNT Health Risk Pathogenic PCNT-related disorder, PCNT-related disorder
RS766117035 DDX41 Health Risk Pathogenic Myelodysplasia, DDX41-related hematologic malignancy predisposition syndrome
RS766117149 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS766117254 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS766117687 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS766117970 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS766118369 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS766118409 STAMBP Health Risk Pathogenic —
RS766119429 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
RS766119511 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS766120010 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS766120336 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS766120355 MADD Health Risk Likely pathogenic Deeah syndrome, Deeah syndrome
RS766121894 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS766122076 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS766122956 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS766123066 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS766124250 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS766124869 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS766125552 ATP2A2 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Inborn genetic diseases
RS766127222 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome 1
RS766127245 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS766127339 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS766128806 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS766129413 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS766130090 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS766130576 TG Health Risk Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS766131451 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS766131721 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS766131966 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS766132697 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS766132877 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis 12, Infantile nephronophthisis
RS766134215 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS766134513 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS766134825 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS76613506 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Tip-toe gait
RS766135206 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS766136290 COL11A2 Health Risk Pathogenic —
RS766136478 WDPCP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WDPCP-related disorder
RS766136714 COQ6 Health Risk Conflicting classifications of pathogenicity Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases
RS766136761 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS766137006 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766137229 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS766137929 ABCA3 Health Risk Pathogenic —
RS766138785 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS766139678 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS766140986 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS766141716 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS766143193 LCA5 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS766143485 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation
RS766143785 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS766143826 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS766144077 TTN Health Risk Conflicting classifications of pathogenicity —
RS766144819 ABCA1 Health Risk Pathogenic —
RS766145596 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS766145624 ABL1 Health Risk Conflicting classifications of pathogenicity —
RS766145981 BRCA2 Health Risk Pathogenic —
RS766146375 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS766146854 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766147713 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS766149114 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS766153322 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS766153965 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Inborn genetic diseases
RS766154387 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, Isolated microphthalmia 3
RS766155407 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS766156798 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS76615690 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS766156923 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS766157497 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS766157503 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766157836 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS766158073 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS766158800 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS766160589 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS766161582 PAX5 Health Risk Conflicting classifications of pathogenicity Leukemia, acute lymphoblastic
RS766161615 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS766162654 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS766163167 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS766164602 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766164843 TGFB3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Rienhoff syndrome
RS766165249 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS766166210 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
RS766166355 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS766166610 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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