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
RS150873622 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PLOD3-related disorder
RS150873930 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS150874422 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS150876010 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS150877061 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150877497 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150877512 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS150877640 IL12RB2 Health Risk Conflicting classifications of pathogenicity IL12RB2-related disorder, IL12RB2-related disorder
RS150878060 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS150879145 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS150880478 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa
RS150882197 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS150882285 VARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, seizures
RS150882646 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS150882711 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS150882838 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS150883363 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS150883816 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150884181 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, CBLIF-related disorder
RS150884376 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS150885084 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS150885737 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS150886208 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS150887058 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS150887098 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS150887807 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS150888094 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS150888506 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, 7 conditions
RS150889040 RECQL Health Risk Conflicting classifications of pathogenicity RECQL-related disorder, RECQL-related disorder
RS150889229 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS150889871 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS150890296 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 1
RS150891608 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS150892737 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS150892928 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, Inborn genetic diseases
RS150893158 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, FBXO38-related disorder
RS150893514 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS150893861 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS150894638 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS150894778 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors
RS150894862 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Inborn genetic diseases
RS150895509 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 3
RS150895872 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS150895887 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS150896332 AKAP3 Health Risk Pathogenic Spermatogenic failure 82, Spermatogenic failure 82
RS150896376 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS150896551 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS150896588 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS150896729 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS150898485 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS150899380 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS150899388 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS150901286 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS150901869 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS150902092 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS150902800 RBP3 Health Risk Pathogenic —
RS150903058 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, COL7A1-related disorder
RS150904940 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuroblastoma
RS150905331 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS150905950 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150905984 ITSN2 Health Risk Conflicting classifications of pathogenicity ITSN2-related disorder, ITSN2-related disorder
RS150906249 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS150907698 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150910102 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS150911078 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS150911354 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS150912028 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS150912089 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150912414 VPS37A Health Risk Conflicting classifications of pathogenicity Idiopathic transverse myelitis, Hereditary spastic paraplegia 53
RS150912644 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
RS150913170 SLC4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150914629 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, ABAT-related disorder
RS150914702 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS150914837 PYCR1 Health Risk Conflicting classifications of pathogenicity PYCR1-related disorder, PYCR1-related disorder
RS150915750 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, FASN-related disorder
RS150916178 FGFR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150916370 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS150917600 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150917737 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS150918808 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS150920473 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS150922478 ITGA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150922740 AASS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150922871 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS150923034 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS150923988 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS150924100 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS150924243 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150924946 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS150925429 TCF20 Health Risk Conflicting classifications of pathogenicity TCF20-related disorder, Inborn genetic diseases
RS150925674 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS150926409 ROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS150926439 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, CBLIF-related disorder
RS150927045 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS150927256 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS150927351 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS150928081 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS150928521 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), PEX19-related disorder
RS150928523 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS150928869 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
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