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
RS138643506 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS138644399 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1386446278 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1386447227 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS138644808 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS138645044 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS138646392 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS138646436 STS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138646715 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS138646765 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS138647604 STX16 Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
RS1386476396 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS138648117 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL9A3-related disorder
RS1386485242 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1386490624 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS1386495377 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS138649664 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS138650597 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1386511892 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS138652066 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138652506 DNAH9 Health Risk Conflicting classifications of pathogenicity —
RS138652649 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS1386536852 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS138654170 DYSF Health Risk Conflicting classifications of pathogenicity Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS1386542234 HYAL1 Health Risk Pathogenic/Likely pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS138654444 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS1386551513 CTSC Health Risk Conflicting classifications of pathogenicity Periodontitis, aggressive 1
RS138655269 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, FAT4-related disorder
RS138655335 JAK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138655912 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138656216 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS138656755 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS138656762 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
RS138656911 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS138657343 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Amyloidosis
RS1386577803 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS138657991 CELSR3 Health Risk Likely risk allele Tourette syndrome, Tourette syndrome
RS1386580787 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS138658585 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS1386586416 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, RNASEH2A-related disorder
RS138659167 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS138660534 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138661164 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS1386612395 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa
RS138661581 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1386626162 BCS1L Health Risk Pathogenic —
RS138662754 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS1386632671 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS138664031 KLHL24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cardiomyopathy
RS1386641968 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1386646132 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS138664823 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS138665095 CRAT Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 8, Neurodegeneration with brain iron accumulation
RS1386658293 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS138667242 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Lafora disease
RS138667578 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138667752 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138667763 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS1386691031 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1386696811 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS138670560 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS1386707595 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138670775 GFM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138671220 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, PITPNM3-related disorder
RS138671319 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS138671830 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, type 1
RS138671904 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1386720978 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS138672830 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS138673546 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS138673993 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138674014 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS138674440 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS138675304 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS138675420 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder
RS138677674 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1386789664 BBS2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1386803894 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS138680796 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Methylmalonic acidemia
RS138680809 MARVELD2 Health Risk Conflicting classifications of pathogenicity MARVELD2-related disorder, MARVELD2-related disorder
RS1386810597 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS138681343 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1386813633 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS138681366 OTOF Health Risk Pathogenic —
RS138681649 HAVCR2 Health Risk Conflicting classifications of pathogenicity —
RS138682103 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS138682163 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Cone-rod dystrophy 3
RS138682290 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS138682654 WFS1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, WFS1-related disorder
RS138682701 UMOD Health Risk Conflicting classifications of pathogenicity UMOD-related disorder, Inborn genetic diseases
RS138682847 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS138683303 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1386837360 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1386859726 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS138686233 ASTN1 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS138686378 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS138687036 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS138687424 GUCY1A1 Health Risk Conflicting classifications of pathogenicity Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
RS138687537 ANLN Health Risk Conflicting classifications of pathogenicity —
RS1386875637 EHMT1 Health Risk Conflicting classifications of pathogenicity EHMT1-related disorder, Kleefstra syndrome 1
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