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
RS781896656 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781897787 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KDM5C-related disorder
RS781898381 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS781899045 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine transporter deficiency
RS781899954 PGK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781900044 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781900720 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS781901998 ATP2B3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781902812 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781902994 PHKA1 Health Risk Pathogenic PHKA1-related disorder, Glycogen phosphorylase kinase deficiency
RS781903086 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS781903207 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS781903868 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS781904011 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781904032 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, ELN-related disorder
RS781904041 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS781904042 LAGE3 Health Risk Conflicting classifications of pathogenicity —
RS781904944 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS781905246 TKT Health Risk Pathogenic/Likely pathogenic Transketolase deficiency, Transketolase deficiency
RS781905415 BCAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid cancer
RS781906252 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS781906434 CYP2R1 Health Risk Conflicting classifications of pathogenicity Vitamin D hydroxylation-deficient rickets, type 1B
RS781906610 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS781907036 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781907409 PLEC Health Risk Likely pathogenic —
RS781908018 GPAA1 Health Risk Likely pathogenic GPAA1-related disorder, GPAA1-related disorder
RS781908326 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, History of neurodevelopmental disorder
RS781908504 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS781908510 CCNB3 Health Risk Conflicting classifications of pathogenicity —
RS781908532 SLC25A1 Health Risk Pathogenic Myasthenic syndrome, congenital
RS781908666 ELN Health Risk Likely pathogenic —
RS781909775 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS781910090 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781911173 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS781911944 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781912153 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS781912370 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS781912401 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS781912440 CLCN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781913166 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781914030 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS781914230 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia
RS781915148 GDI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781915319 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781915659 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781916427 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS781916556 MYO7A Health Risk Pathogenic —
RS781917029 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781917247 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS781917332 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS781917512 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781918838 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS781919095 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS781919581 RAB39B Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 72
RS781919840 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS781920661 RBM10 Health Risk Likely pathogenic TARP syndrome, TARP syndrome
RS781920954 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS781920955 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS781921302 ATP6AP1 Health Risk Conflicting classifications of pathogenicity —
RS781922871 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781923153 FGF3 Health Risk Conflicting classifications of pathogenicity —
RS781923569 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS781923855 SLC52A2 Health Risk Likely pathogenic —
RS781923856 CACNA1F Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781924536 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS781924765 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS781925449 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781925968 SLC25A1 Health Risk Likely pathogenic 2-hydroxyglutaric aciduria, 2-hydroxyglutaric aciduria
RS781926323 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781926600 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS781927659 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781927920 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS781928056 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS781928217 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS781928289 FLNA Health Risk Conflicting classifications of pathogenicity 6 conditions, Heterotopia
RS781928490 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781928603 F8 Health Risk Pathogenic Mild hemophilia A, Thrombophilia
RS781928632 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS781929360 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781929758 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS781930433 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781931508 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS781931763 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS781931836 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS781933660 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Qualitative or quantitative defects of myotubularin
RS781933899 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781934305 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Lung cancer
RS781934508 SURF1 Health Risk Conflicting classifications of pathogenicity Muscle weakness, Abnormal pyramidal sign
RS781934535 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS781934861 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS781934865 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS78193493 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder
RS781935515 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS781935760 CYBB Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Recurrent bronchitis
RS781935881 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS781935919 PLS3 Health Risk Pathogenic/Likely pathogenic Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS781936267 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS781936420 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781936550 RP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS781936816 DLAT Health Risk Conflicting classifications of pathogenicity —
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