Gene: POLH ×
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: rs752080248
rs752080248
POLH
GT 0.700 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
dbSNP: rs772570523
rs772570523
POLH
A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
dbSNP: rs759607901
rs759607901
POLH
T 0.700 CausalMutation CLINVAR Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs121908562
rs121908562
POLH
T 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: rs745778317
rs745778317
POLH
G 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: rs752080248
rs752080248
POLH
GT 0.700 GeneticVariation CLINVAR Xeroderma pigmentosum-variant patients from America, Europe, and Asia. 18368133

2008
dbSNP: rs767433001
rs767433001
POLH
T 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: 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: rs767433001
rs767433001
POLH
T 0.700 GeneticVariation CLINVAR Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. 17344931

2007
dbSNP: rs1176350430
rs1176350430
POLH
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908563
rs121908563
POLH
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908564
rs121908564
POLH ; GTPBP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1426687865
rs1426687865
POLH
A 0.700 CausalMutation CLINVAR