XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Disease: Short philtrum ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1861324
Disease:
Short philtrum 		C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014