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rs735482

From SNPedia

Orientationplus
Stabilizedplus
Make rs735482(A;A)
Make rs735482(A;C)
Make rs735482(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position45408744
GeneCD3EAP, ERCC1
is asnp
is mentioned by
dbSNPrs735482
ebirs735482
HLIrs735482
Exacrs735482
Varsomers735482
Maprs735482
PheGenIrs735482
hapmaprs735482
1000 genomesrs735482
hgdprs735482
ensemblrs735482
gopubmedrs735482
geneviewrs735482
scholarrs735482
googlers735482
pharmgkbrs735482
gwascentralrs735482
openSNPrs735482
23andMers735482
23andMe allrs735482
SNP Nexus

SNPshotrs735482
SNPdbers735482
MSV3drs735482
GWAS Ctlgrs735482
GMAF0.2612
Max Magnitude
? (A;A) (A;C) (C;C) 28

[PMID 20061190] ERCC1 haplotypes modify bladder cancer risk: A case-control study


[PMID 21435719] Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide


[PMID 20863778OA-icon.png] Association studies of excision repair cross-complementation group 1 (ERCC1) haplotypes with lung and head and neck cancer risk in a Caucasian population.


GET Evidence
CD3EAP-K259T
aa_change Lys259Thr
aa_change_short K259T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.179215
summary



[PMID 24140460] HapMap-based study identifies risk sub-region on chromosome 19q13.3 in relation to lung cancer among Chinese


[PMID 23180017] PPP1R13L variant associated with prognosis for patients with rectal cancer.


[PMID 23775331] A functional variant at 19q13.3, rs967591G>A, is associated with shorter survival of early-stage lung cancer.


[PMID 26563375] Association and interaction of NFKB1 rs28362491 insertion/deletion ATTG polymorphism and PPP1R13L and CD3EAP related to lung cancer risk in a Chinese population