Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5743077
rs5743077
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
CUI: C0373607
Disease:
Ferritin measurement
G 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs5743077
rs5743077
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
CUI: C0696113
Disease:
Serum ferritin measurement
G 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
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: rs5743185
rs5743185
Entrez Id: 5378;105373796
Gene Symbol: PMS1;LOC105373796
PMS1;LOC105373796
CUI: C0005823
Disease:
Blood Pressure
0.700 GeneticVariation GWASDB Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. 21378095 2011
dbSNP: rs1233255
rs1233255
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
CUI: C0011603
Disease:
Dermatitis
0.010 GeneticVariation BEFREE PMS1 rs1233255 had an impact on the occurrence of grade ≥2 dermatitis. 30590005 2019
dbSNP: rs5743030
rs5743030
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
CUI: C0007113
Disease:
Rectal Carcinoma
0.010 GeneticVariation BEFREE Meanwhile, PMS1 rs4920657, rs5743030, and rs5743100 were associated with overall survival (OS) time of rectal cancer. 30590005 2019
dbSNP: rs5743100
rs5743100
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
CUI: C0007113
Disease:
Rectal Carcinoma
0.010 GeneticVariation BEFREE Meanwhile, PMS1 rs4920657, rs5743030, and rs5743100 were associated with overall survival (OS) time of rectal cancer. 30590005 2019
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
dbSNP: rs758168664
rs758168664
Entrez Id: 5378;105373796
Gene Symbol: PMS1;LOC105373796
PMS1;LOC105373796
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. 19781088 2009
dbSNP: rs758168664
rs758168664
Entrez Id: 5378;105373796
Gene Symbol: PMS1;LOC105373796
PMS1;LOC105373796
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. 19781088 2009
dbSNP: rs756580931
rs756580931
Entrez Id: 5378;105373796
Gene Symbol: PMS1;LOC105373796
PMS1;LOC105373796
CUI: C0265325
Disease:
Turcot syndrome (disorder)
0.010 GeneticVariation BEFREE The hPMS2 mutation E705K is associated with Turcot syndrome. 17029773 2007