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rs7712023

From SNPedia

Orientationplus
Stabilizedplus
Make rs7712023(A;A)
Make rs7712023(A;T)
Make rs7712023(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position163462952
GeneHMMR
is asnp
is mentioned by
dbSNPrs7712023
ebirs7712023
HLIrs7712023
Exacrs7712023
Varsomers7712023
Maprs7712023
PheGenIrs7712023
hapmaprs7712023
1000 genomesrs7712023
hgdprs7712023
ensemblrs7712023
gopubmedrs7712023
geneviewrs7712023
scholarrs7712023
googlers7712023
pharmgkbrs7712023
gwascentralrs7712023
openSNPrs7712023
23andMers7712023
23andMe allrs7712023
SNP Nexus

SNPshotrs7712023
SNPdbers7712023
MSV3drs7712023
GWAS Ctlgrs7712023
GMAF0.3485
Max Magnitude
? (A;A) (A;T) (T;T) 28
cancergenetics The risk of breast cancer was 23% higher in women who had one copy of genetic variant (the A-C-A haplotype: rs7712023-rs299290-rs10515860), and 46% higher in women with two copies. In addition, those women were diagnosed an average of 12 months younger than women from the control group, suggesting that HMMR is linked to early-onset breast cancer.

However, a more recent, larger European case-control study found no association between rs7712023 and risk of breast cancer.[PMID 19065580]

[PMID 19064580] breast cancer

  • rs10515860 [odds ratio (OR; AA/GG), 0.85; 95% confidence interval (CI), 0.65-1.12; P(trend) = 0.9],
  • rs299290 [OR (CC/TT), 1.00; 95% CI, 0.87-1.15; P(trend) = 0.7],
  • rs3756648 (rs7712023) [OR (TT/CC), 0.93; 95% CI, 0.84-1.02; P(trend) = 0.1],
  • rs299284 [OR (TT/CC), 1.01; 95% CI, 0.76-1.35; P(trend) = 0.5], and
  • rs13183712 [OR (TT/GG), 1.04; 95% CI, 0.88-1.23; P(trend) = 0.6].