RPA1, replication protein A1, 6117

N. diseases: 59; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030755
rs5030755
Entrez Id: 6117
Gene Symbol: RPA1
RPA1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs5030755
rs5030755
Entrez Id: 6117
Gene Symbol: RPA1
RPA1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11078676
rs11078676
Entrez Id: 6117
Gene Symbol: RPA1
RPA1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The findings of the present study suggest that the polymorphisms in HRR genes were associated with BC risk (RFC1 rs6829064) and prognosis (NRM rs1075496 and LIG3 rs1052536), whereas RAD54L rs1710286 and RPA1 rs11078676 had null associations with BC. 28940489 2017
dbSNP: rs11078676
rs11078676
Entrez Id: 6117
Gene Symbol: RPA1
RPA1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The findings of the present study suggest that the polymorphisms in HRR genes were associated with BC risk (RFC1 rs6829064) and prognosis (NRM rs1075496 and LIG3 rs1052536), whereas RAD54L rs1710286 and RPA1 rs11078676 had null associations with BC. 28940489 2017
dbSNP: rs3786136
rs3786136
Entrez Id: 6117
Gene Symbol: RPA1
RPA1
CUI: C0040034
Disease:
Thrombocytopenia
0.010 GeneticVariation BEFREE In squamous cell carcinoma, rs4150558, rs2290280, rs8067195 were significantly associated with anemia, rs3786136 was significantly related to thrombocytopenia, ERCC5 presented consecutive significant signals in response rate. 28924235 2017