Gene: GTPBP2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
G 0.800 GeneticVariation CLINVAR Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000
dbSNP: rs121908565
rs121908565
POLH ; GTPBP2
C 0.800 CausalMutation CLINVAR

dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
G 0.800 CausalMutation CLINVAR

dbSNP: rs886039225
rs886039225
POLH ; GTPBP2
C 0.700 CausalMutation CLINVAR Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. 18703314

2008
dbSNP: rs121908564
rs121908564
POLH ; GTPBP2
T 0.700 CausalMutation CLINVAR