DCT, dopachrome tautomerase, 1638

N. diseases: 59; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16949906
rs16949906
Entrez Id: 1638
Gene Symbol: DCT
DCT
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs16949906
rs16949906
Entrez Id: 1638
Gene Symbol: DCT
DCT
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs6492711
rs6492711
Entrez Id: 1638
Gene Symbol: DCT
DCT
CUI: C0018498
Disease:
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs9561570
rs9561570
Entrez Id: 1638
Gene Symbol: DCT
DCT
CUI: C0406208
Disease:
Suntan 		T 0.700 GeneticVariation GWASCAT Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. 29739929 2018
dbSNP: rs1411928276
rs1411928276
Entrez Id: 1638
Gene Symbol: DCT
DCT
CUI: C0949664
Disease:
Tauopathies 		0.010 GeneticVariation BEFREE We present a family with autosomal dominant frontotemporal lobar degeneration caused by a novel GRN nonsense mutation (c.5G>A: p.Trp2*) in which the proband's brain also showed prominent glial tauopathy consistent with an aging-related tau astrogliopathy. 30545478 2019