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
RS775476318 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS775477059 SEC61A1 Health Risk Conflicting classifications of pathogenicity Hyperuricemic nephropathy, familial juvenile type 4
RS775477470 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS775478465 CD36 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 10, Malaria
RS775479526 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder
RS775479779 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS775479837 CYP11B1 Health Risk Pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS775481785 AMMECR1 Health Risk Conflicting classifications of pathogenicity Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS775481896 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS775482502 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775482687 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS775482774 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS775483404 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder
RS7754840 CDKAL1 Health Risk risk factor Obesity, Obesity
RS775484792 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS775484942 VCX3B Health Risk Conflicting classifications of pathogenicity —
RS775486403 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS775486463 ERCC2 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
RS775487057 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS775488556 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS775488590 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS775489067 FBN1 Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS775489140 CNOT3 Health Risk Likely pathogenic —
RS775489256 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS775490128 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS775491352 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS775491374 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS775491404 TAMM41 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 56, Combined oxidative phosphorylation deficiency 56
RS775492598 ZBTB24 Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases
RS775492883 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Inborn genetic diseases
RS775492992 DCHS1 Health Risk Likely pathogenic —
RS775493668 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS775494152 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS775494170 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS775495075 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS775495653 BMPR1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acromesomelic dysplasia 3
RS775496136 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS775496394 COL7A1 Health Risk Pathogenic —
RS775496999 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS775497330 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS775497405 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS775497984 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 86
RS775498547 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS775498550 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS775499191 NMNAT2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS775499286 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS775499341 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS775499386 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS775500020 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS775501375 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS775502377 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS775502608 KCNK9 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS775502762 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS775502935 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Inborn genetic diseases
RS775503600 DNAH17 Health Risk Pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS775504814 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS775504996 TTN Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS775505429 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS775505863 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS775506164 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775506976 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS775506986 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS775508830 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS775509290 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS775509896 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS775510420 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS775510502 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775511838 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS775512866 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775513051 KLHL41 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS775513269 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS775514445 UMOD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775515705 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS775516009 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS775516158 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS775516200 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS775516231 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS775516790 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS775517107 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS775517465 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS775517492 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS775517752 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS775518895 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS775518991 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Rod-cone dystrophy
RS775519861 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS775520383 PIK3C2A Health Risk Conflicting classifications of pathogenicity —
RS775521571 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS775522542 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775524073 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS775524204 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS775525473 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS775526463 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS775527406 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775528195 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS775529885 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS775529923 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS775531301 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS775531779 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS775531807 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS775532488 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
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