RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066790
rs2066790
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs6844176
rs6844176
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6835111
rs6835111
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs6835111
rs6835111
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs78773383
rs78773383
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs78773383
rs78773383
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
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: rs6829064
rs6829064
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
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: rs6829064
rs6829064
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
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: rs28903095
rs28903095
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation BEFREE We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk. 22051736 2012