Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742933
rs5742933
Entrez Id: 5378;94101
Gene Symbol: PMS1;ORMDL1
PMS1;ORMDL1
CUI: C0696113
Disease:
Serum ferritin measurement
0.700 GeneticVariation GWASCAT Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. 25162662 2014
dbSNP: rs5742933
rs5742933
Entrez Id: 5378;94101
Gene Symbol: PMS1;ORMDL1
PMS1;ORMDL1
CUI: C0373607
Disease:
Ferritin measurement
0.700 GeneticVariation GWASCAT After adjusting for population stratification, age and BMI, the rs5742933 located in the 5'UTR region of PMS1 gene on chromosome 2 was the most significantly associated with ferritin concentrations (P-combined  = 2.329×10(-10)) (β  =  -0.11, 95% CI: -0.14, -0.07). 25162662 2014
dbSNP: rs5742933
rs5742933
Entrez Id: 5378;94101
Gene Symbol: PMS1;ORMDL1
PMS1;ORMDL1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933. 21739480 2012
dbSNP: rs5742933
rs5742933
Entrez Id: 5378;94101
Gene Symbol: PMS1;ORMDL1
PMS1;ORMDL1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933. 21739480 2012
dbSNP: rs5742933
rs5742933
Entrez Id: 5378;94101
Gene Symbol: PMS1;ORMDL1
PMS1;ORMDL1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933. 21739480 2012