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
RS567896256 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS567899708 CHRNG Health Risk Conflicting classifications of pathogenicity Rheumatoid arthritis, Autosomal recessive multiple pterygium syndrome
RS56790237 KRT5 Health Risk Likely pathogenic —
RS567904247 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS567904252 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS567909904 NOTCH1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Adams-Oliver syndrome 5
RS567911133 ATP8A2 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS567921262 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS567922009 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS567930512 FAM20C Health Risk Conflicting classifications of pathogenicity —
RS567932275 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS567934887 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS56793579 LMNA Health Risk Pathogenic/Likely pathogenic Familial partial lipodystrophy, Dunnigan type
RS567936162 HOMER2 Health Risk Conflicting classifications of pathogenicity —
RS567938424 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS567943387 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS567961453 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS567970076 MYO18B Health Risk Pathogenic —
RS567985213 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS567988442 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS567990186 DNHD1 Health Risk Pathogenic —
RS567992352 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS567995164 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS567995390 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS568000575 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS568003396 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2
RS568006089 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS568007401 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS568009639 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS568009712 TET2 Health Risk Conflicting classifications of pathogenicity —
RS568010875 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Essential hypertension
RS568022266 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS568027879 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS568032471 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568037602 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS568039462 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS568039936 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS568040559 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS568046921 ERBB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568049240 DOCK6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS568054544 ORAI1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS568060358 TMEM260 Health Risk Conflicting classifications of pathogenicity —
RS568060648 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS568067396 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Inborn genetic diseases
RS568070697 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder
RS568071525 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS568082272 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS568088809 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS568089577 CDH2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia, familial
RS568115513 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568121876 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS568125844 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS56812642 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS568127693 NKX2-6 Health Risk Conflicting classifications of pathogenicity Conotruncal heart malformations, Conotruncal heart malformations
RS568128856 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS568132506 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS568134011 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases
RS568135080 DPYS Health Risk Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency, DPYS-related disorder
RS568141672 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS568147806 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS568149455 APC Health Risk Likely pathogenic —
RS56815840 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS568163462 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS56816490 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS568165874 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1A
RS568173041 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS568176223 AP4S1 Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS568193318 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS568193912 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, ERCC3-related disorder
RS568197988 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS568198475 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS568200779 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia
RS568201784 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS568204894 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS568207978 DNMT3A Health Risk Pathogenic/Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, See cases
RS56821304 KRT81 Health Risk Likely pathogenic Monilethrix-2, Monilethrix-2
RS568213908 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS568219000 FOXN1 Health Risk Likely pathogenic —
RS568223521 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS568224207 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS568247949 TMEM260 Health Risk Conflicting classifications of pathogenicity Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS568256888 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Perrault syndrome 5
RS568257273 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS568283927 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56829062 KRT2 Health Risk Pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS568294049 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
RS568305044 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS568311340 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS568312345 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS568333498 APC2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 74
RS568346565 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS568348314 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS568354015 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS568356836 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS568361529 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS568367953 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS568371168 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS568372341 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS568377824 CA2 Health Risk Pathogenic/Likely pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS568390760 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
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