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
RS367857478 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS367857772 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Neuronopathy
RS367858076 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, Congenital hypotrichosis with juvenile macular dystrophy
RS367858452 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367858662 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS367860186 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS367860281 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS367861522 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367862706 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS367863044 ALDH6A1 Health Risk Pathogenic Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS367863299 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS367864272 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS367864862 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Seckel syndrome 1
RS367866295 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS367867008 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS367867382 CLTC Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 56
RS367868307 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS367868644 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS367869345 SAMD9 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS367870620 TARS2 Health Risk Likely pathogenic —
RS367871780 NEXN Health Risk Conflicting classifications of pathogenicity Left ventricular hypertrophy, Dilated cardiomyopathy 1CC
RS367872728 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS367872941 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367873118 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS367873195 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS367874223 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS367874361 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS367874972 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367875541 DLAT Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS367876251 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS367877017 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS367877267 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS367877988 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367878826 MOV10L1 Health Risk Pathogenic Azoospermia, Azoospermia
RS367879245 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS367880372 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS367882437 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS367882846 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS367882912 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS367884384 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367886108 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, KIDINS220-related disorder
RS367887017 TSPAN12 Health Risk Conflicting classifications of pathogenicity —
RS367887740 STIL Health Risk Conflicting classifications of pathogenicity —
RS367888853 TTN Health Risk Conflicting classifications of pathogenicity —
RS367889201 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS367889547 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS367890377 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS367890526 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS367890569 KCNQ4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS367891074 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367892718 DARS2 Health Risk Pathogenic —
RS367893541 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS367895193 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS367897068 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome, Crigler-Najjar syndrome
RS367900575 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS367901722 PAK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367901920 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS367902089 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS367902696 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases
RS367903122 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS367904732 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS367904759 DONSON Health Risk Conflicting classifications of pathogenicity DONSON-related Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS367905297 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367905430 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS367905706 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS367906505 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS367906630 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS367907615 NYNRIN Health Risk Conflicting classifications of pathogenicity —
RS367907885 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS367908043 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS367908623 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS367908657 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS367909007 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS367910344 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS367910936 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS367911059 GALM Health Risk Pathogenic —
RS367912276 TANGO2 Health Risk Pathogenic/Likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS367912290 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS367913308 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS367914610 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS367915667 RNASEH2B Health Risk Likely pathogenic Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 2
RS367916210 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS367916239 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367916348 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS367916566 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS367916692 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS367916721 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS367917821 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS367921036 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS367922082 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS367922991 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 33
RS367924428 TMC1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS367926247 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS367927066 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS367927155 MED13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder 61
RS367927174 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS367927367 PIGB Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 80
RS367928364 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS367928692 CDH23 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1D
RS367928867 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
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