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
RS372812312 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372812523 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1
RS372813548 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS372813656 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related disorder, Inborn genetic diseases
RS372813783 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Inborn genetic diseases
RS372814940 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372815392 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS372815788 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, RB1-related disorder
RS372816429 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS372816951 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS372817613 DGAT1 Health Risk Pathogenic/Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS372817963 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372818428 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS372818642 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS372819257 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS372820178 TTN Health Risk Conflicting classifications of pathogenicity —
RS372821099 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, TP53-related disorder
RS372821643 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
RS372821877 ROBO3 Health Risk Pathogenic —
RS372822977 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, BBS4-related disorder
RS372825432 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS372825868 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS372826489 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, TTN-related disorder
RS372826788 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS372826934 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 1
RS372827156 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS372828014 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS372828105 HARS2 Health Risk Conflicting classifications of pathogenicity —
RS372828681 KIF23 Health Risk Conflicting classifications of pathogenicity —
RS372828849 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS372829200 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS372829300 SEMA3F Health Risk Conflicting classifications of pathogenicity SEMA3F-related disorder, SEMA3F-related disorder
RS372829353 TANC2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS372830230 ALX4 Health Risk Conflicting classifications of pathogenicity Parietal foramina 2, Parietal foramina 2
RS372830287 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, CNTNAP2-related disorder
RS372830789 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS372831672 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS372832025 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372832376 NDUFAF4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS372832470 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS372832497 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS372832680 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372833027 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS372833436 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS372833461 CFHR2 Health Risk Conflicting classifications of pathogenicity —
RS372833507 IL12RB1 Health Risk Pathogenic IL12RB1-related disorder, IL12RB1-related disorder
RS372833545 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS372834284 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS372834668 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS372835460 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS372835667 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS372838203 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS372838534 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS372838622 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS372838651 STIL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372838887 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS372839477 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS372840016 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372841136 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS372841640 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372841738 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS372841765 COL4A4 Health Risk Conflicting classifications of pathogenicity Glomerulonephritis, Inborn genetic diseases
RS372842922 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS372843420 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372843505 C3 Health Risk Conflicting classifications of pathogenicity Cervical cancer, Familial cancer of breast
RS372844024 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372844636 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS372844807 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS372844870 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS372845091 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS372847680 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS372848304 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS372848519 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS372848579 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS372850085 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS372850426 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS372852106 MAT1A Health Risk Pathogenic/Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS372852652 ATP6V0A2 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy
RS372852903 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS372853086 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, CUBN-related disorder
RS372853437 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372853725 SON Health Risk Conflicting classifications of pathogenicity SON-related disorder, Intellectual disability
RS372854981 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS372855769 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome, Wolfram-like syndrome
RS372857241 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis 3
RS372857848 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS372858742 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372858877 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS372860328 SLC34A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372860402 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372860835 TECTA Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS372861398 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS372861545 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372862264 MDH2 Health Risk Conflicting classifications of pathogenicity —
RS372863815 SLC12A2 Health Risk Conflicting classifications of pathogenicity —
RS372864251 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS372865972 TMEM67 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 11, Joubert syndrome 6
RS372866009 RTN4IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372866837 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS372867268 COA5 Health Risk Conflicting classifications of pathogenicity —
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