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
RS781842057 RNU7-1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 9, Aicardi-Goutieres syndrome 9
RS781842184 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS781842708 SLC52A2 Health Risk Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS781843315 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS781843594 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS781843758 MECP2 Health Risk Pathogenic —
RS781844419 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781844824 ADAMTS13 Health Risk Pathogenic —
RS781844857 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS781846227 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome
RS781846478 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS781846571 IQSEC2 Health Risk Likely pathogenic —
RS781847274 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS781847641 RBP3 Health Risk Pathogenic —
RS781847893 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781848162 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS781848457 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS781849333 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS781850599 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781852261 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS781852373 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781852691 SLC39A4 Health Risk Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS781853215 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS781853968 CRYAB Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 2, Cataract 16 multiple types
RS781854613 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS781855364 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS781855598 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS78185588 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781855910 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781856506 C1S Health Risk Pathogenic Complement component C1s deficiency, Ehlers-Danlos syndrome
RS781856747 ZNF275 Health Risk Conflicting classifications of pathogenicity —
RS781857012 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781857513 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS781857990 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS781859294 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS781859520 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS781859711 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS781860863 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781860875 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS781861708 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Monogenic diabetes
RS781862563 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS781862879 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS781862992 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS781863734 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS781864075 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781864891 TTC12 Health Risk Pathogenic Ciliary dyskinesia, primary
RS781864926 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS781865069 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS781865550 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS781865768 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS781866639 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS781868282 ATP6AP1;FAM50A;GDI1 Health Risk Likely pathogenic Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
RS781869170 MYO7A Health Risk Pathogenic —
RS781869215 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS781869793 GATA5 Health Risk Conflicting classifications of pathogenicity —
RS781871113 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS781871487 NAA10 Health Risk Conflicting classifications of pathogenicity Ogden syndrome, Ogden syndrome
RS781872314 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781872960 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS781873529 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy
RS781874593 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS781874815 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS781875935 PLS3 Health Risk Likely pathogenic Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS781875982 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS781876217 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS781876521 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781876705 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781877059 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS781878105 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS781878646 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS781879374 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Frontometaphyseal dysplasia
RS781880611 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9-related disorder
RS781881326 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS781881392 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, GJA8-related disorder
RS781881476 TSPEAR Health Risk Pathogenic Tooth agenesis, selective
RS781881541 RBP3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS781881868 FKBP6 Health Risk Likely pathogenic Spermatogenic failure 77, Male infertility
RS781881872 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781882121 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS781882457 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781882781 MAGT1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type ICC
RS781883243 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781885999 ATP6V1B1 Health Risk Pathogenic —
RS781886157 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS781886601 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS781886803 KDM2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781886946 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781887441 PQBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781887799 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS781888321 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS781888847 ATRX Health Risk Pathogenic —
RS781889659 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS781890061 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS781890406 TSPEAR Health Risk Pathogenic Inborn genetic diseases, TSPEAR-related disorder
RS781892077 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS781892153 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS781892155 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781892709 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS781893704 MYO7A Health Risk Likely pathogenic Usher syndrome type 1B, MYO7A-related disorder
RS781896277 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
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