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
RS141763734 ERCC5 Health Risk Conflicting classifications of pathogenicity —
RS141763789 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS141764012 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS1417640176 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS141764458 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Wagner disease
RS141764855 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS141764916 ACVRL1 Health Risk Conflicting classifications of pathogenicity Haemorrhagic telangiectasia 2, Telangiectasia
RS141764966 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1417654713 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS141766242 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LTBP2-related disorder
RS141766991 ANKS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephronophthisis 16
RS1417673287 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1417674040 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1417677519 WDR26 Health Risk Conflicting classifications of pathogenicity —
RS141768043 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS141768094 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS141768227 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS141768405 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1417684145 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS141768593 KIF14 Health Risk Conflicting classifications of pathogenicity Microcephaly 20, primary
RS141769057 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1417690595 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS141769154 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Glaucoma 3
RS1417695501 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1417699318 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS141770006 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS1417714105 TECTA Health Risk Pathogenic —
RS141771795 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS141772824 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS141772938 ACO2 Health Risk Conflicting classifications of pathogenicity Optic atrophy 9, Infantile cerebellar-retinal degeneration
RS141773281 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS1417732851 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS141773516 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS1417740204 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS141774369 GJB2 Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A
RS141774517 HGF Health Risk Conflicting classifications of pathogenicity —
RS141774769 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1417750087 CUL3 Health Risk Pathogenic Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS141775350 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1417753527 CLCN7 Health Risk Pathogenic —
RS141775567 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS141776183 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1417768010 CAMTA1 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1417768931 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS141776984 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1417779335 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS141779040 EYA1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 1, Branchiootic syndrome 1
RS141779215 DNAJC6 Health Risk Conflicting classifications of pathogenicity Juvenile onset Parkinson disease 19A, Inborn genetic diseases
RS141779807 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS141780263 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1417807379 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS141781255 BCO1 Health Risk Conflicting classifications of pathogenicity —
RS141781307 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS141782332 LINS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LINS1-related disorder
RS141783438 RDH5 Health Risk Conflicting classifications of pathogenicity —
RS141783465 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS141783623 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS141783628 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS141783863 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, ATR-related disorder
RS141784184 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS141785149 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Hereditary spastic paraplegia
RS1417854249 VPS13A Health Risk Pathogenic —
RS1417859624 HMGCR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Muscular dystrophy
RS141785977 ASAH1 Health Risk Conflicting classifications of pathogenicity Lung cancer, Lung cancer
RS141786551 CCDC141 Health Risk Conflicting classifications of pathogenicity —
RS141786883 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS141787212 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS141787797 COL7A1 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta type 1, Amelogenesis imperfecta type 1
RS1417887060 MYH7B Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS141789403 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1417894512 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1417904088 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS141790557 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1417908560 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1417914545 CAMSAP1 Health Risk Pathogenic/Likely pathogenic CAMSAP1-related neuronal migration disorder, Cortical dysplasia
RS141791913 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS141793014 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS141793065 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1417934743 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS141794685 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, Ectrodactyly
RS1417947464 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS141796905 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141798304 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS141798398 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS141798540 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS141798688 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS141798874 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS1417994243 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS141799673 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1417997778 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes-Brocks syndrome 1
RS141799841 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS141800038 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1418002054 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS141800325 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS141800351 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS141800430 OTOF Health Risk Conflicting classifications of pathogenicity —
RS141800945 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS141801107 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS141801212 TEX14 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1418012389 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
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