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
RS560847421 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS560853464 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Generalized dominant dystrophic epidermolysis bullosa
RS560853558 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS560855452 PRSS12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 1
RS56085644 TTC28 Health Risk Conflicting classifications of pathogenicity TTC28-related disorder, TTC28-related disorder
RS560860762 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560861999 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS560868487 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS560868702 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS560874115 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS560877883 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, CRB2-related disorder
RS560889543 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56089364 ERCC6 Health Risk Conflicting classifications of pathogenicity ERCC6-related disorder, ERCC6-related disorder
RS560896222 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS560905645 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS560910758 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS560911127 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS560912181 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS560912365 FLG Health Risk Pathogenic —
RS560913943 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS560914000 LMX1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nail-patella syndrome
RS560916681 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS56091799 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS560919408 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS56092260 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS56092510 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 7
RS560928668 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS56093012 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS560932680 SDHA Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex II deficiency
RS560939419 DNAH5 Health Risk Conflicting classifications of pathogenicity DNAH5-related disorder, Primary ciliary dyskinesia
RS56094246 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS560944258 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS560948457 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS560951755 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS560952220 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS56095304 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS560953332 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS560954695 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS56096120 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS560966094 FBXW4 Health Risk Conflicting classifications of pathogenicity —
RS560967532 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS560972647 YARS2 Health Risk Conflicting classifications of pathogenicity —
RS560981171 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS560987339 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS560987504 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation
RS56099091 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS560992020 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560996946 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS561001438 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS561004600 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS56100509 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS561005562 SLC39A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary acrodermatitis enteropathica
RS561006425 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS56100707 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS561008892 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561012778 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS561017686 NEUROD1 Health Risk Conflicting classifications of pathogenicity —
RS561018129 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Joubert syndrome
RS56102085 FBN1 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Marfan syndrome
RS561020906 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS56102764 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Heterotopia
RS56103026 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group U
RS561034503 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS561035032 CEP250 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS56104887 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Sick sinus syndrome 1
RS561054389 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS561059250 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS561064266 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS56107171 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS561075447 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Autosomal recessive retinitis pigmentosa
RS561077201 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS56108230 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561083322 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Thyroid cancer
RS561083858 SP7 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS561085365 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS561088543 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS561097415 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS56109743 ERCC5 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS561111097 EYA1 Health Risk Conflicting classifications of pathogenicity Renal hypoplasia, Melnick-Fraser syndrome
RS561115645 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561122654 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS561126575 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS561130072 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS561131255 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Trigonocephaly 2
RS561131509 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS561144747 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS561150244 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS561152891 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS561163301 RP1L1 Health Risk Conflicting classifications of pathogenicity —
RS561166342 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS561166361 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS56116752 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56116802 ERCC3 Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum group B
RS561173643 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS561176499 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS56118173 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS561183059 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS561184126 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Gastric cancer
RS561190371 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS561193756 CDH3 Health Risk Conflicting classifications of pathogenicity —
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