Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509402
rs397509402
ERCC4
0.800 GeneticVariation UNIPROT Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. 24027083

2013
dbSNP: rs397509402
rs397509402
ERCC4
0.800 GeneticVariation UNIPROT Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 23623386

2013
dbSNP: rs397509402
rs397509402
ERCC4
C 0.800 CausalMutation CLINVAR

dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 GeneticVariation CLINVAR The ERCC1 and ERCC4 (XPF) genes and gene products. 26074087

2015
dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 GeneticVariation CLINVAR Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 26453996

2015
dbSNP: rs1451008479
rs1451008479
ERCC4
0.700 GeneticVariation UNIPROT Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. 24027083

2013
dbSNP: rs1451008479
rs1451008479
ERCC4
0.700 GeneticVariation UNIPROT Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 23623386

2013
dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 GeneticVariation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389

2013
dbSNP: rs1555468482
rs1555468482
ERCC4
A 0.700 CausalMutation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389

2013
dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 GeneticVariation CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988

2011
dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 GeneticVariation CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251

2010
dbSNP: rs147105770
rs147105770
ERCC4
T 0.700 CausalMutation CLINVAR

dbSNP: rs149364215
rs149364215
ERCC4
A 0.700 CausalMutation CLINVAR

dbSNP: rs397509400
rs397509400
ERCC4
T 0.700 CausalMutation CLINVAR

dbSNP: rs397509401
rs397509401
ERCC4
TCTTACACTTCACTTCCCCAGACTACGGA 0.700 CausalMutation CLINVAR