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
RS778030177 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Macular dystrophy
RS778031266 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778032599 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS778033415 CD320 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia due to transcobalamin receptor defect, Methylmalonic acidemia due to transcobalamin receptor defect
RS778033578 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS778034451 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS778035330 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS778035441 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS778036088 NEU1 Health Risk Pathogenic —
RS778036519 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS778036627 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS778037798 PDZRN3 Health Risk Likely pathogenic Short stature, Short stature
RS778039192 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS778039525 HCN1 Health Risk Conflicting classifications of pathogenicity HCN1-related disorder, Early-infantile DEE
RS778040010 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS778040604 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS77804083 SMN1 Health Risk Pathogenic Spinal muscular atrophy, type II
RS778041055 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS778042759 NAF1 Health Risk Conflicting classifications of pathogenicity —
RS778043139 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS778043242 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS778043831 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Glomerulonephritis
RS778044260 C6 Health Risk Likely pathogenic —
RS778046473 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS778049327 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS778049466 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS778050587 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS778050996 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS778051353 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS778051833 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS778051907 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS778052683 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778053171 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS778053688 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS778053947 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS778054296 ASCC1 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS778055996 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS778056465 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS778056528 UNC80 Health Risk Pathogenic —
RS778056605 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS778059585 GNAT1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS778060629 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778063345 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS778064094 ITGA6 Health Risk Likely pathogenic —
RS778065845 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS778066908 ARHGEF25 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS778067704 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS778068209 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS778068631 CES1 Health Risk Pathogenic DRUG METABOLISM, ALTERED
RS778069675 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS778070352 RMND1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS778071122 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS778072039 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS778072582 GRM6 Health Risk Pathogenic —
RS778073001 ZNF674 Health Risk Conflicting classifications of pathogenicity —
RS778073237 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS77807333 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS778074427 HNF1A Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 20, Maturity-onset diabetes of the young
RS778074755 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS778074908 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778075301 COL17A1 Health Risk Pathogenic —
RS778075842 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS778076484 EBF3 Health Risk Pathogenic —
RS778077385 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778077946 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS778079243 P3H2 Health Risk Pathogenic —
RS778081416 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS778082012 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS778082263 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adams-Oliver syndrome 2
RS778082644 FANCI Health Risk Likely pathogenic —
RS778083125 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS778083470 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS778083630 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS778087108 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS778087162 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata
RS778088966 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS778089198 PREX2 Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS778090540 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS778091278 MAST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778091394 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS778092263 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS778092738 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS778093337 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS778093769 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS778094136 COQ2 Health Risk Conflicting classifications of pathogenicity Multiple system atrophy, Coenzyme Q10 deficiency
RS778094361 SLC12A3 Health Risk Pathogenic —
RS778096225 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS778096289 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS778096489 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778097475 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS778098130 DMRT1 Health Risk Likely pathogenic —
RS778098806 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778099516 CNNM4 Health Risk Pathogenic —
RS778100574 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS778100619 PNPT1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS778100657 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS778102219 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS778102512 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778102727 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS778103040 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa 59
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