Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.030 GeneticVariation BEFREE We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. 24861646 2014
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.030 GeneticVariation BEFREE Individuals carrying ERCC1 rs11615 AA and XPF rs6498486 CC genotypes were associated with poorer response to chemotherapy when compared with wild-type genotype, with the ORs (95 % CI) of 0.48 (0.25-0.94) and 0.38 (0.14-1.00). 24793015 2014
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.030 GeneticVariation BEFREE Three SNPs in ERCC1 (rs11615, rs3212986, and rs2298881) and two SNPs in XPF (rs2276465 and rs6498486) were extracted using Tiangen DNA kit (Tiangen Biotech, Beijing, China) according to the manufacturer's instructions. 24793015 2014
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.030 GeneticVariation BEFREE We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. 24861646 2014
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.030 GeneticVariation BEFREE The ERCC1 rs11615 variant A/A genotype was associated </span>with increased breast cancer risk in codominant, dominant, and recessive models, and XPF rs6498486 variant C/C genotype carriers have a significantly increased breast cancer risk in codominant, dominant, and recessive models. 23909490 2013
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.030 GeneticVariation BEFREE Genotyping of ERCC1 (rs2298881, rs3212986, and rs11615) and XPF (rs2276465, rs6498486, and rs2276466) was performed in a 384-well plate format on the MassARRAY(®) platform. 23909490 2013
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.020 GeneticVariation BEFREE Three SNPs in ERCC1 (rs11615, rs3212986, and rs2298881) and two SNPs in XPF (rs2276465 and rs6498486) were extracted using Tiangen DNA kit (Tiangen Biotech, Beijing, China) according to the manufacturer's instructions. 24793015 2014
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.020 GeneticVariation BEFREE We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. 24861646 2014
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0268140
Disease:
Xeroderma pigmentosum, group F
0.010 GeneticVariation BEFREE The ERCC1 point mutation F231L, located at the hydrophobic interaction interface of ERCC1 (excision repair cross-complementation group 1) and XPF (xeroderma pigmentosum complementation group F), leads to severe NER pathway deficiencies. 26085086 2015