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
RS1382100120 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS138210440 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS138211175 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection
RS138211651 WDR81 Health Risk Conflicting classifications of pathogenicity —
RS1382122104 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1B
RS1382122523 GYS1 Health Risk Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS138212452 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138212767 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS138213159 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS138213182 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS138213197 HOXB13 Health Risk Pathogenic/Likely pathogenic; association Prostate cancer susceptibility, Hereditary cancer-predisposing syndrome
RS1382139812 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138214338 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS138215926 PPA2 Health Risk Pathogenic/Likely pathogenic Sudden cardiac failure, alcohol-induced
RS138216561 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS138216783 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS138217855 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1382181446 TARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS1382184215 CYP27B1 Health Risk Pathogenic —
RS138218523 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1382186195 PDE6A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 43
RS138218829 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS1382191649 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, GNE myopathy
RS138219631 C5AR2 Health Risk Conflicting classifications of pathogenicity —
RS138219703 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS138220431 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS138220755 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Acute myeloid leukemia
RS138221333 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS1382219910 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1382219911 ALPL Health Risk Likely pathogenic Hypophosphatasia, Childhood hypophosphatasia
RS138222058 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138222146 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS138223055 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS1382256509 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138225703 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS1382260409 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS138226280 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS138226428 LRSAM1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1382274750 RAD21 Health Risk Likely pathogenic —
RS138227618 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS138228629 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS1382300456 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS138230622 LAMB2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, LAMB2-related infantile-onset nephrotic syndrome
RS1382307460 ADGRV1 Health Risk Pathogenic —
RS1382310091 MAK Health Risk Pathogenic —
RS1382310975 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Inborn genetic diseases
RS1382321491 LOC130009810;RNASEH2B;RNASEH2B-AS1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS138232181 TALDO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TALDO1-related disorder
RS1382321984 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS138232224 HIP1 Health Risk Conflicting classifications of pathogenicity —
RS138232280 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS138232538 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, WFS1-Related Spectrum Disorders
RS138232561 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder
RS138232636 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset
RS1382335133 FRRS1L Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 37
RS138234047 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, Inborn genetic diseases
RS138234724 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1382350974 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1382351297 C2CD3 Health Risk Pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS138236643 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS1382373816 MAN1B1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Rafiq syndrome
RS1382380215 COL4A4 Health Risk Pathogenic —
RS1382382001 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1382394474 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS138239756 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS138240045 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS138240046 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Microvascular complications of diabetes
RS1382402264 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138240307 BRWD3 Health Risk Conflicting classifications of pathogenicity —
RS138240620 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1382407439 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS138240892 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS138241050 SERPINH1 Health Risk Conflicting classifications of pathogenicity —
RS1382415023 SON Health Risk Pathogenic Inborn genetic diseases, ZTTK syndrome
RS138241615 TJP2 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial 1
RS138241682 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS138242019 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hereditary spherocytosis type 4
RS138242579 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1382428056 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1382430464 DSG2 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS138243167 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS138243217 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1382435790 CYP4F22 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS1382437273 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS1382441067 SASH3 Health Risk Pathogenic Immunodeficiency 102, Immunodeficiency 102
RS1382444181 METTL23 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1382448285 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Hereditary hyperinsulinism
RS138245131 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS138245283 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS138245586 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS138245920 ASCC1 Health Risk Pathogenic Barrett esophagus, Barrett esophagus
RS138246242 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS138246328 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS138246330 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS138247472 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1382474804 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS138248019 DGAT1 Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS138248569 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS138249161 POLR3B Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 7 with or without anosmia
RS138249238 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4
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