RFWD3, ring finger and WD repeat domain 3, 55159

N. diseases: 119; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555524842
rs1555524842
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C4521564
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.800 GeneticVariation UNIPROT RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health. 28575657 2017
dbSNP: rs1555524842
rs1555524842
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C4521564
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.800 GeneticVariation UNIPROT Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. 28691929 2017
dbSNP: rs4888262
rs4888262
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		0.800 GeneticVariation GWASCAT Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. 28604728 2017
dbSNP: rs4888262
rs4888262
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		T 0.800 GeneticVariation GWASCAT Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. 28604732 2017
dbSNP: rs4888262
rs4888262
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		C 0.800 GeneticVariation GWASDB Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
dbSNP: rs1555524842
rs1555524842
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C4521564
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		T 0.800 CausalMutation CLINVAR
dbSNP: rs7193541
rs7193541
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7201320
rs7201320
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7193541
rs7193541
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C0026764
Disease:
Multiple Myeloma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
dbSNP: rs4888262
rs4888262
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C0039590
Disease:
Testicular Neoplasms 		C 0.700 GeneticVariation GWASCAT Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
dbSNP: rs1205970095
rs1205970095
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C4521564
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		AGG 0.700 CausalMutation CLINVAR
dbSNP: rs1555524842
rs1555524842
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C0015625
Disease:
Fanconi Anemia 		0.010 GeneticVariation BEFREE An amino acid substitution in the WD40 repeats of RFWD3 (I639K) found in a new FA subtype abolishes interaction of RFWD3 with RPA, thereby preventing RFWD3 recruitment to sites of ICL-induced replication fork stalling. 28575657 2017
dbSNP: rs1555524842
rs1555524842
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 GeneticVariation BEFREE An amino acid substitution in the WD40 repeats of RFWD3 (I639K) found in a new FA subtype abolishes interaction of RFWD3 with RPA, thereby preventing RFWD3 recruitment to sites of ICL-induced replication fork stalling. 28575657 2017