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
RS75895925 SPATA7 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 3, Retinitis pigmentosa 94
RS758959471 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cholestanol storage disease
RS758960344 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS758960994 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS758961134 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS758961147 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS758961316 NOTCH3 Health Risk Pathogenic —
RS758961867 EPHB4 Health Risk Pathogenic/Likely pathogenic Lymphatic malformation 7, Lymphatic malformation 7
RS758962274 AR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS758962364 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS758965664 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS758966293 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 19
RS758969419 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS758969883 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS758970940 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS758972393 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS758972589 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS758972811 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS758974396 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS758977199 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS758977418 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS758977865 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758978727 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS758983524 OTOF Health Risk Pathogenic —
RS758983771 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758986425 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS758986523 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS758987045 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS758987855 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS758988621 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS758988777 ERCC2 Health Risk Conflicting classifications of pathogenicity —
RS758990336 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758990524 HS2ST1 Health Risk Pathogenic Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis
RS758990693 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS758991263 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS758991387 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS758992291 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS758992360 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS758992649 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS758993386 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758993681 DOCK8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyper-IgE recurrent infection syndrome 3
RS758993965 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS758993966 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758995387 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS758996758 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS758996824 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS758997013 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS758997426 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS758997504 MYO18B Health Risk Pathogenic —
RS758997612 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758997792 LFNG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylocostal dysostosis 3
RS759000314 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS759002369 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759003928 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS759003992 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS759004251 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759004319 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS759005216 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS759006424 PADI6 Health Risk Conflicting classifications of pathogenicity Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS759006806 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS759007264 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS759007326 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS759007975 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759009226 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS759010465 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS759011231 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPH2-related disorder
RS759012078 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS759012809 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, FH-related disorder
RS759013844 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Vici syndrome
RS759013925 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS759014147 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS759014440 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS759015068 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS759015176 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS759016192 TUB Health Risk Pathogenic —
RS759016336 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS759017288 ALPL Health Risk Pathogenic Hypophosphatasia, Adult hypophosphatasia
RS759017540 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS759017753 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS759017891 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder
RS759021934 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS759022429 POLE2 Health Risk Conflicting classifications of pathogenicity —
RS759024254 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS759024400 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS759024519 ALMS1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Alstrom syndrome
RS759026497 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS759026521 PIEZO1 Health Risk Pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS759029404 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759029705 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS759029777 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS759030267 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS759030817 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759031330 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS759031349 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS759032227 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS759032324 SKIC2 Health Risk Pathogenic —
RS759033144 CYP2U1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, CYP2U1-related disorder
RS759035704 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS759036311 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS759036645 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
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