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rs1047768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1047768(C;C)
Make rs1047768(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102852167
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs1047768
dbSNP (old)rs1047768
ClinGenrs1047768
ebirs1047768
HLIrs1047768
Exacrs1047768
Gnomadrs1047768
Varsomers1047768
Maprs1047768
PheGenIrs1047768
Biobankrs1047768
1000 genomesrs1047768
hgdprs1047768
ensemblrs1047768
gopubmedrs1047768
geneviewrs1047768
scholarrs1047768
googlers1047768
pharmgkbrs1047768
gwascentralrs1047768
openSNPrs1047768
23andMers1047768
23andMe allrs1047768
SNP Nexus

SNPshotrs1047768
SNPdbers1047768
MSV3drs1047768
GWAS Ctlgrs1047768
GMAF0.4881
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 19661089OA-icon.png] Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China

[PMID 17299578OA-icon.png] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.

[PMID 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

[PMID 20233728OA-icon.png] Cis-acting genetic variation at an E2F1/YY1 response site and putative p53 site is associated with altered allele-specific expression of ERCC5 (XPG) transcript in normal human bronchial epithelium.


[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.


ClinVar
Risk rs1047768(C;C)
Alt rs1047768(C;C)
Reference Rs1047768(T;T)
Significance Other
Disease not specified Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN not specified Xeroderma pigmentosum
Reversed 0
HGVS NC_000013.10:g.103504517T>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000116990.3, RCV000272532.1,



[PMID 26339355OA-icon.png] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma


[PMID 27235448OA-icon.png] Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells.


[PMID 28115302] Interactions among polymorphisms of NER genes prompt the risk of transplantation rejection.


[PMID 28351583] Candidate apoptotic and DNA repair gene approach confirms involvement of ERCC1, ERCC5, TP53 and MDM2 in radiation-induced toxicity in head and neck cancer.