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
RS149452352 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS149454216 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS149454410 SLC2A9 Health Risk Conflicting classifications of pathogenicity Hypouricemia, renal
RS149454742 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS149454830 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS149455643 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS149455769 EPS8 Health Risk Conflicting classifications of pathogenicity EPS8-related disorder, EPS8-related disorder
RS149456776 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS149456868 GGT5 Health Risk Conflicting classifications of pathogenicity —
RS149456922 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS149457059 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS149457565 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS149459548 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149459564 COL9A1 Health Risk Conflicting classifications of pathogenicity COL9A1-related disorder, Inborn genetic diseases
RS149459910 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS149460434 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS149460805 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149461099 COX4I1 Health Risk Conflicting classifications of pathogenicity —
RS149462407 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS149464307 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS149465057 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149465465 BMP2 Health Risk Conflicting classifications of pathogenicity BMP2-related disorder, BMP2-related disorder
RS149466359 SIAE Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS149466386 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS149466423 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS149466797 BSCL2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Charcot-Marie-Tooth disease type 2
RS149467828 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS149468425 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS149469954 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS149470089 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS149470241 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149471411 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS149471462 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS149472555 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS149472569 DLC1 Health Risk Conflicting classifications of pathogenicity DLC1-related disorder, DLC1-related disorder
RS149473481 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS149474131 SPG7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS149474191 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS149474339 CSTA Health Risk Likely pathogenic Peeling skin syndrome 4, Peeling skin syndrome 4
RS149474608 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome
RS149475049 ACY1 Health Risk Conflicting classifications of pathogenicity —
RS149475825 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS149476159 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS149476960 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS149478021 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS149478199 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS149478294 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS149479425 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS149479911 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS149480738 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS149481227 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS149481717 RNF31 Health Risk Conflicting classifications of pathogenicity —
RS149481813 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7-related disorder
RS149481974 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS149481989 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS149482096 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS149482336 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS149483341 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS149484264 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS149484917 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS149485800 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder
RS149486847 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS149487112 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS149487202 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS149487757 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS149487862 HMOX1 Health Risk Conflicting classifications of pathogenicity —
RS149487996 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS149488488 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS149489069 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149491038 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS149491709 SLC16A1 Health Risk Conflicting classifications of pathogenicity —
RS149493236 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness
RS149494070 ESCO2 Health Risk Conflicting classifications of pathogenicity ESCO2-related disorder, Roberts-SC phocomelia syndrome
RS149494502 TTN Health Risk Conflicting classifications of pathogenicity —
RS149494974 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS149496322 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS149496604 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS149497496 RBPJ Health Risk Conflicting classifications of pathogenicity —
RS149498667 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS149499021 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS149501505 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS149501654 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS149502567 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS149504103 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS149504235 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS149504668 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS149505471 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS149505473 SLC6A20 Health Risk Conflicting classifications of pathogenicity Hyperglycinuria, Iminoglycinuria
RS149506333 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS149507807 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS149508004 FAM111A Health Risk Conflicting classifications of pathogenicity FAM111A-related disorder, FAM111A-related disorder
RS149510465 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS149510838 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS149510892 USH1C Health Risk Conflicting classifications of pathogenicity —
RS149511545 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS149512448 NLGN4X Health Risk Conflicting classifications of pathogenicity —
RS149513330 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Medulloblastoma
RS149513743 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS149514924 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS149514973 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder
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