SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS781786942 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS781787822 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS781788038 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781788290 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781788935 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS781789218 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS781789823 FLNA Health Risk Pathogenic Frontometaphyseal dysplasia, Heterotopia
RS781790231 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS781790246 MYO7A Health Risk Likely pathogenic Deafness, Rare genetic deafness
RS781790917 ARHGAP4 Health Risk Conflicting classifications of pathogenicity —
RS781792644 F8 Health Risk Pathogenic Thrombophilia, X-linked
RS781793052 RBP3 Health Risk Likely pathogenic RBP3-related disorder, RBP3-related disorder
RS781793261 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS781794138 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS781795144 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS781797234 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS78179744 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS781797609 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS781797728 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease
RS781798317 SLC25A26 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
RS781799471 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS781800676 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubulopathies, Renal tubular acidosis with progressive nerve deafness
RS781803154 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS781803498 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS781804005 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B
RS781804177 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781804199 CCNB3 Health Risk Conflicting classifications of pathogenicity —
RS781804904 ATP6V1B1 Health Risk Pathogenic —
RS781805159 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS781805416 FOXP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS781805662 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781806203 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781808414 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781808958 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781809353 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781810349 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS78181071 DTNBP1 Health Risk Conflicting classifications of pathogenicity —
RS781811015 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS781811444 MYO7A Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS781812149 F8 Health Risk Pathogenic Thrombophilia, X-linked
RS781814342 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781815473 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS781815747 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781815916 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS781815975 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS781816229 FLNA Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked
RS781816242 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS781816624 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS781816667 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS781817340 SMC1A Health Risk Likely pathogenic —
RS781817693 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS781817780 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS781818365 C1S Health Risk Pathogenic —
RS781818673 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS781818996 AFF2 Health Risk Pathogenic FRAXE, FRAXE
RS781819293 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781820716 CPA1 Health Risk Pathogenic —
RS781821239 B3GNT6 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS781821894 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS781822154 ATP6V1B1 Health Risk Likely pathogenic —
RS781822167 SSX1 Health Risk Pathogenic Spermatogenic failure, X-linked
RS781822297 GPAA1 Health Risk Likely pathogenic —
RS781823033 CYP2R1 Health Risk Pathogenic —
RS781823434 PLEC Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS781823638 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS781823700 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781824115 PRKCD Health Risk Pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS781824288 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS781825705 C12orf57 Health Risk Conflicting classifications of pathogenicity Temtamy syndrome, Temtamy syndrome
RS781826931 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781827791 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome
RS781828275 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781828424 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS781828729 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS781829024 ORAI1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS781829279 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS781830206 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781830267 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781830848 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Oto-palato-digital syndrome
RS781831794 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS781832846 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781833947 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781834607 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS781834630 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1B
RS781834910 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS781835307 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS781835568 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS781836069 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS781836500 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781837094 PHF8 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Siderius type, Inborn genetic diseases
RS781837189 CACNA1F Health Risk Pathogenic —
RS781837529 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS781838005 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Migalastat response
RS781838239 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Williams syndrome
RS781838448 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS781838464 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS781838601 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS781838640 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS781838938 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Distal renal tubular acidosis
RS781840723 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
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