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rs3740066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4.4x risk for ICP
(A;G) 1.6x risk for ICP
(C;C) 0
(G;G) 0 average
ReferenceGRCh38 38.1/142
Chromosome10
Position99844450
GeneABCC2
is asnp
is mentioned by
dbSNPrs3740066
ebirs3740066
HLIrs3740066
Exacrs3740066
Varsomers3740066
Maprs3740066
PheGenIrs3740066
hapmaprs3740066
1000 genomesrs3740066
hgdprs3740066
ensemblrs3740066
gopubmedrs3740066
geneviewrs3740066
scholarrs3740066
googlers3740066
pharmgkbrs3740066
gwascentralrs3740066
openSNPrs3740066
23andMers3740066
23andMe allrs3740066
SNP Nexus

SNPshotrs3740066
SNPdbers3740066
MSV3drs3740066
GWAS Ctlgrs3740066
GMAF0.3044
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs3740066, a SNP in the ABCC2 gene, is reported to be associated with a higher risk of developing intrahepatic cholestasis of pregnancy (ICP) based on a study of ~70 Argentinian patients. ICP is associated with increased fetal risks such as premature birth or intrauterine death.

The risk allele is rs3740066(A), and the odds ratio for homozygous rs3740066(A;A) mothers is 4.44 (CI: 1.83 - 10.78), and for heterozygous mothers 1.65 (CI: 0.76 - 3.64), compared to rs3740066(G;G) mothers. [PMID 17997497]




[PMID 22630058] ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients


[PMID 18395921OA-icon.png] Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.


[PMID 18926681] Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease.


[PMID 19568750OA-icon.png] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.


GET Evidence
rs3740066
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.330173
summary



[PMID 23506516] A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy


[PMID 23556446] Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease


[PMID 22868256OA-icon.png] A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.


ClinVar
Risk rs3740066(A;A)
Alt rs3740066(A;A)
Reference rs3740066(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ABCC2
CLNDBN not specified
Reversed 1
HGVS NC_000010.10:g.101604207C>T
CLNSRC
CLNACC RCV000176843.1,