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
RS201744761 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
RS201745292 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS201745746 LRP5 Health Risk Likely pathogenic Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
RS201745796 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS201745826 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 2A
RS201746137 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201746407 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS201746408 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS201746476 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS201747279 CNGA3 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2
RS201747375 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS201747452 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS201748079 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201748228 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinal macular dystrophy type 2
RS2017487230 NFIX Health Risk Pathogenic —
RS2017489032 NFIX Health Risk Conflicting classifications of pathogenicity Marshall-Smith syndrome, Malan overgrowth syndrome
RS201749120 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS201749138 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201749187 NBEAL2 Health Risk Conflicting classifications of pathogenicity NBEAL2-related disorder, Inborn genetic diseases
RS201749293 HNF4A Health Risk Conflicting classifications of pathogenicity —
RS201749357 PTH1R Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS201749864 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS201749977 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS201750183 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS201750214 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, C1S-related disorder
RS201750304 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201750444 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS201750697 SIAE Health Risk Conflicting classifications of pathogenicity —
RS201751275 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS201751544 HPD Health Risk Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS2017517553 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS201751992 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, Inborn genetic diseases
RS201752014 MCFD2 Health Risk Conflicting classifications of pathogenicity Factor 5 and Factor VIII, combined deficiency of
RS201752283 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Glioma susceptibility 1
RS201752905 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS201753022 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS201753066 BBIP1 Health Risk Conflicting classifications of pathogenicity BBIP1-related disorder, BBIP1-related disorder
RS201753098 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS201753270 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS201753350 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS201753421 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS201753429 TNNT2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac death, Dilated cardiomyopathy 1D
RS201753781 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS201754030 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Primary dilated cardiomyopathy
RS201754358 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS201754378 NDUFAF4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS201754399 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
RS201754491 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201754555 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS201754946 KRT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, White sponge nevus 1
RS201755444 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Connective tissue disorder
RS201756168 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS201756175 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS201756421 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201756674 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS201757205 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201757275 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS201757586 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201758122 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases
RS201758263 VARS2 Health Risk Conflicting classifications of pathogenicity VARS2-related disorder, VARS2-related disorder
RS201758329 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS201758481 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEU1-related disorder
RS201758531 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201758548 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS201759367 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS201759867 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201760019 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS201760623 POC1B Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 20, Inborn genetic diseases
RS201760746 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201761081 ABCC1 Health Risk Conflicting classifications of pathogenicity —
RS201761335 MYT1L Health Risk Conflicting classifications of pathogenicity Early onset severe obesity, Early onset severe obesity
RS201761802 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS201761868 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS201762017 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS201762439 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS201762532 GFER Health Risk Likely pathogenic —
RS201762568 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS201762714 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201762781 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS201762847 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS201762858 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS201762900 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS201763265 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS201763437 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201763667 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201763720 DNM2 Health Risk Conflicting classifications of pathogenicity Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS201763918 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS201763950 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS201764050 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS201764098 SKIC2 Health Risk Conflicting classifications of pathogenicity —
RS201764222 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201764494 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS201764553 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS201764637 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS201764744 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS201764931 FH Health Risk Likely pathogenic —
RS201765331 CD36 Health Risk Likely pathogenic Inherited bleeding disorder, platelet-type
RS201765507 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS201765587 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS201765665 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
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