Gene: POLH ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908565
rs121908565
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs121908565
rs121908565
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
dbSNP: rs121908565
rs121908565
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT hRAD30 mutations in the variant form of xeroderma pigmentosum. 10398605

1999
dbSNP: rs121908565
rs121908565
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. 10385124

1999
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. 10385124

1999
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
0.800 GeneticVariation UNIPROT hRAD30 mutations in the variant form of xeroderma pigmentosum. 10398605

1999
dbSNP: rs1413703153
rs1413703153
POLH
0.700 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs199562456
rs199562456
POLH ; GTPBP2
0.700 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs756931657
rs756931657
POLH
0.700 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs758423288
rs758423288
POLH
0.700 GeneticVariation UNIPROT Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24130121

2014
dbSNP: rs1413703153
rs1413703153
POLH
0.700 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
dbSNP: rs199562456
rs199562456
POLH ; GTPBP2
0.700 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
dbSNP: rs756931657
rs756931657
POLH
0.700 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
dbSNP: rs758423288
rs758423288
POLH
0.700 GeneticVariation UNIPROT Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631

2002
dbSNP: rs1413703153
rs1413703153
POLH
0.700 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000
dbSNP: rs1413703153
rs1413703153
POLH
0.700 GeneticVariation UNIPROT Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000
dbSNP: rs199562456
rs199562456
POLH ; GTPBP2
0.700 GeneticVariation UNIPROT Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 11121129

2000
dbSNP: rs199562456
rs199562456
POLH ; GTPBP2
0.700 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000
dbSNP: rs756931657
rs756931657
POLH
0.700 GeneticVariation UNIPROT Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. 11032022

2000