Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434426
rs121434426
FANCG
A 0.710 CausalMutation CLINVAR A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG. 25703136

2015
dbSNP: rs121434426
rs121434426
FANCG
0.710 GeneticVariation BEFREE Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population. 23067021

2013
dbSNP: rs121434426
rs121434426
FANCG
A 0.710 CausalMutation CLINVAR Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population. 12673805

2003