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rs299290

From SNPedia

Orientationplus
Stabilizedplus
Make rs299290(C;C)
Make rs299290(C;T)
Make rs299290(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position163475510
GeneHMMR
is asnp
is mentioned by
dbSNPrs299290
ebirs299290
HLIrs299290
Exacrs299290
Varsomers299290
Maprs299290
PheGenIrs299290
hapmaprs299290
1000 genomesrs299290
hgdprs299290
ensemblrs299290
gopubmedrs299290
geneviewrs299290
scholarrs299290
googlers299290
pharmgkbrs299290
gwascentralrs299290
openSNPrs299290
23andMers299290
23andMe allrs299290
SNP Nexus

SNPshotrs299290
SNPdbers299290
MSV3drs299290
GWAS Ctlgrs299290
GMAF0.3223
Max Magnitude
? (C;C) (C;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 rs299290 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].


GET Evidence
HMMR-V369A
aa_change Val369Ala
aa_change_short V369A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.263525
summary