Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41556519
rs41556519
ERCC2
0.810 GeneticVariation UNIPROT

dbSNP: rs121913020
rs121913020
ERCC2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913024
rs121913024
ERCC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913026
rs121913026
ERCC2
A 0.710 CausalMutation CLINVAR

dbSNP: rs752510317
rs752510317
ERCC2
0.710 GeneticVariation UNIPROT

dbSNP: rs1340806384
rs1340806384
ERCC2
0.700 GeneticVariation UNIPROT

dbSNP: rs140522180
rs140522180
ERCC2
0.700 GeneticVariation UNIPROT

dbSNP: rs144564120
rs144564120
ERCC2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1568546120
rs1568546120
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568546252
rs1568546252
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs762309206
rs762309206
ERCC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs772572683
rs772572683
ERCC2
0.700 GeneticVariation UNIPROT

dbSNP: rs964247601
rs964247601
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs376556895
rs376556895
ERCC2
0.810 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs121913020
rs121913020
ERCC2
0.800 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs121913024
rs121913024
ERCC2
0.800 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs121913016
rs121913016
ERCC2
0.720 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs121913019
rs121913019
ERCC2
0.710 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs1360631927
rs1360631927
ERCC2
0.710 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs121913023
rs121913023
ERCC2
0.700 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs121913025
rs121913025
ERCC2
0.700 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs771824813
rs771824813
ERCC2
0.700 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs28934576
rs28934576
TP53
0.010 GeneticVariation BEFREE We also found that wild-type, but not Arg273His mutant p53 inhibits XPD (Rad3) and XPB DNA helicase activities. 7663514

1995
dbSNP: rs376556895
rs376556895
ERCC2
0.810 GeneticVariation UNIPROT Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. 7825573

1995