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
RS142797984 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS142798033 CHAD Health Risk Conflicting classifications of pathogenicity —
RS142798172 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS142799217 OTOG Health Risk Conflicting classifications of pathogenicity —
RS1427995653 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS142800774 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS142800871 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, RSPH3-related disorder
RS142801489 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS142801720 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
RS1428018512 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1428026630 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS142802752 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS1428029508 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1428029642 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1428030956 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS142803672 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS142803799 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS142804180 SYT2 Health Risk Conflicting classifications of pathogenicity —
RS1428047310 OTUD7A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1428047738 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS142805294 EXPH5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS142805308 TCN1 Health Risk Conflicting classifications of pathogenicity Transcobalamin I deficiency, Transcobalamin I deficiency
RS142805406 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1428057753 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS142806397 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS142807436 DMD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Duchenne muscular dystrophy
RS142808131 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
RS1428085460 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS142808871 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
RS142808899 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, See cases
RS1428092166 FLNB Health Risk Pathogenic —
RS1428100117 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1428102803 CASC19 Health Risk association Familial prostate cancer, Familial prostate cancer
RS1428108985 APTX Health Risk Pathogenic —
RS142812224 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS142812715 OPTN Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Amyotrophic lateral sclerosis type 12
RS142813109 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS142814111 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS142814134 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142814184 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS142815512 IFT27 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, IFT27-related disorder
RS1428157373 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1428157543 SHROOM4 Health Risk Conflicting classifications of pathogenicity —
RS1428157627 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS142816010 IDH2 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, Enchondromatosis
RS142818468 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Distal Renal Tubular Acidosis
RS142818579 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1428188386 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1428192739 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS142821067 ANLN Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
RS142821143 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS142821701 GPD2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1428221545 UBR1 Health Risk Pathogenic —
RS142822216 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142822371 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS142823078 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1428231658 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142825013 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Inborn genetic diseases
RS142825776 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS1428261191 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS142827255 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS142828185 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS142828669 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS1428300892 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS142830104 ZBTB24 Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 2, ZBTB24-related disorder
RS142830212 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS142831346 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1428321405 MYO7A Health Risk Pathogenic —
RS1428321490 ARL6IP1 Health Risk Pathogenic Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
RS1428321806 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142833057 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1428333006 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS142833343 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS142833447 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS142833529 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS142834115 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1428341575 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142835239 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS142835743 ENPP1 Health Risk Conflicting classifications of pathogenicity —
RS1428358278 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS142835989 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS1428365702 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142837166 MC4R Health Risk Conflicting classifications of pathogenicity MC4R-related disorder, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS142837782 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related disorder
RS142838031 MCEE Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS142838612 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142838806 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS142840568 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS142840946 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS142841000 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1428414601 ALG1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS142841707 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS142842464 PPP1R13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142843407 RGS9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142843736 CTNND2 Health Risk Conflicting classifications of pathogenicity —
RS142843968 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1428459485 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS142846225 CLDN14 Health Risk Likely pathogenic —
RS142846289 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS142846443 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
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