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
RS141208458 COL4A1 Health Risk Conflicting classifications of pathogenicity Retinal arterial tortuosity, Microangiopathy and leukoencephalopathy
RS141209878 AKT2 Health Risk Conflicting classifications of pathogenicity Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
RS141210030 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS141210068 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS1412101191 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141210410 MTHFD1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Severe combined immunodeficiency disease
RS141211365 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, CUL7-related disorder
RS141211386 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS141211481 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS141211632 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS141211769 SEC63 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 2, Inborn genetic diseases
RS1412122281 PDE6B-AS1;PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS141212446 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS141212932 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1412133967 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS141213545 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141213887 SNX14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS141213959 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS141213991 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Cardiovascular phenotype
RS141214076 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS141214790 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141214900 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS141215006 MYH8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hecht syndrome
RS141215137 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis
RS141215374 IARS2 Health Risk Conflicting classifications of pathogenicity —
RS141215990 STIM1 Health Risk Conflicting classifications of pathogenicity Stormorken syndrome, Myopathy with tubular aggregates
RS141216537 PRMT9 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1412176108 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141218500 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS1412188940 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS141219108 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, F7-related disorder
RS141219664 FBN1 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia, Acromicric dysplasia
RS1412207017 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS141221000 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Sarcoma
RS141222463 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS1412227116 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS141222937 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1412229429 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1412230289 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS141223463 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS141223506 INO80 Health Risk Conflicting classifications of pathogenicity —
RS1412240615 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1412241641 POLE Health Risk Pathogenic —
RS141224456 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS141225768 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS141226447 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141226650 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS141226759 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS141227308 UBR1 Health Risk Conflicting classifications of pathogenicity Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS141228634 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS141228869 DCC Health Risk Likely pathogenic Mirror movements 1, Mirror movements 1
RS1412289052 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS141230043 ERBB3 Health Risk Likely pathogenic Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2
RS141230910 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1412309993 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141232328 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS141232857 FGD6 Health Risk Conflicting classifications of pathogenicity —
RS1412330889 PCGF2 Health Risk Conflicting classifications of pathogenicity —
RS141233327 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS141233896 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolfram syndrome 1
RS141234041 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS1412341951 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS1412346108 SLC30A9 Health Risk Likely pathogenic Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
RS141234678 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141234822 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1412349209 ATP13A2 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation
RS141234995 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS141235383 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141235562 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS141235641 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS141235720 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS141235724 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS1412358291 PARN Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS141235847 CYP11A1 Health Risk Pathogenic —
RS141235954 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS141237794 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS141237842 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS141238380 STT3B Health Risk Conflicting classifications of pathogenicity STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
RS1412393736 ENTPD1 Health Risk Likely pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS141240053 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS141240501 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS1412405724 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS141240580 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS141240817 IFITM5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5
RS1412408576 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS141240937 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS1412422841 MKKS Health Risk Conflicting classifications of pathogenicity MKKS-related disorder, McKusick-Kaufman syndrome
RS141242566 CLCN2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II
RS141242925 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS141243126 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DCHS1-related disorder
RS1412432973 AMHR2 Health Risk Likely pathogenic —
RS1412438412 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Lynch syndrome 1
RS141245344 ALDH1A2 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects
RS141245482 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS141245683 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Glaucoma 3A
RS141246107 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder
RS1412463565 MMUT Health Risk Pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE
RS141247183 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS1412474435 MYO7A Health Risk Pathogenic —
RS141247813 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
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