MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Parkinson Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052553
rs1052553
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0030567
Disease:
Parkinson Disease 		0.730 GeneticVariation GWASDB Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815 2012
dbSNP: rs1052553
rs1052553
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0030567
Disease:
Parkinson Disease 		0.730 GeneticVariation BEFREE All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. 21391235 2011
dbSNP: rs1052553
rs1052553
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0030567
Disease:
Parkinson Disease 		0.730 GeneticVariation BEFREE Our findings indicate that as previously reported, the SNCA rs356219-G allele and MAPT rs1052553 (H1 haplotype) were both associated with an increased risk of PD, whilst contrary to previous reports, GSK3B variants were not. 21159074 2011
dbSNP: rs1052553
rs1052553
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0030567
Disease:
Parkinson Disease 		0.730 GeneticVariation BEFREE We identified a significant association between H1/H2 and risk of PD (rs1052553 OR: 1.43, CI: 1.23-1.64; rs62063857 OR: 1.45, CI: 1.27-1.67), but no effect of the H1-specific SNP rs242557 (OR: 0.92, CI: 0.82-1.03). 19912324 2010