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 Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs121913020
rs121913020
ERCC2
0.800 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs121913024
rs121913024
ERCC2
0.800 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs121913016
rs121913016
ERCC2
0.720 GeneticVariation BEFREE In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution. 7849702

1994
dbSNP: rs121913016
rs121913016
ERCC2
0.720 GeneticVariation UNIPROT In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution. 7849702

1994
dbSNP: rs121913019
rs121913019
ERCC2
0.710 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs1360631927
rs1360631927
ERCC2
0.710 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs121913023
rs121913023
ERCC2
0.700 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs121913025
rs121913025
ERCC2
0.700 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs771824813
rs771824813
ERCC2
0.700 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
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