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rs16991615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.5 age at menopause increased by avg of 22 months
(A;G) 1.5 slight increase (11 months) in avg age at menopause
(G;G) 0 common on affy axiom data
ReferenceGRCh38 38.1/141
Chromosome20
Position5967581
GeneMCM8
is asnp
is mentioned by
dbSNPrs16991615
ebirs16991615
HLIrs16991615
Exacrs16991615
Varsomers16991615
Maprs16991615
PheGenIrs16991615
hapmaprs16991615
1000 genomesrs16991615
hgdprs16991615
ensemblrs16991615
gopubmedrs16991615
geneviewrs16991615
scholarrs16991615
googlers16991615
pharmgkbrs16991615
gwascentralrs16991615
openSNPrs16991615
23andMers16991615
23andMe allrs16991615
SNP Nexus

SNPshotrs16991615
SNPdbers16991615
MSV3drs16991615
GWAS Ctlgrs16991615
GMAF0.03489
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28
rs16991615 is a nonsynonymous SNP on chromosome 20.

A case control study of ~2,000 women found that each rs16991615(A) allele was associated with an average increase in age at menopause of 11 months. This also meant that each rs16991615(G) allele yielded an odds ratio of 1.85 (CI: 1.51–2.2, p = 1.45 x 10e-9) of early menopause, defined as occurring before the age of 46.[PMID 20952801OA-icon.png]

Overall, women homozygous for the "early" alleles at all 4 SNPs found in this study were ~4 times more likely to undergo menopause early compared to women who had a total of 3 or less risk alleles. However, the ability to predict which women will actually undergo early menopause using these 4 SNPs is still low.[PMID 20952801OA-icon.png]

GWAS snp
PMID [PMID 19448621OA-icon.png]
Trait Menarche and menopause (age at onset)
Title Genome-wide association studies identify loci associated with age at menarche and age at natural menopause
Risk Allele A
P-val 1E-21
Odds Ratio 1.07 [0.85-1.29] years older
OMIM612885
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 22267201OA-icon.png]
Trait
Title Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Risk Allele A
P-val 0
Odds Ratio 0.9480 None


[PMID 18535201OA-icon.png] A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.


[PMID 19664201OA-icon.png] Genetic and genomic insights into age at natural menopause.


GET Evidence
MCM8-E341K
aa_change Glu341Lys
aa_change_short E341K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0496375
summary



[PMID 23508249OA-icon.png] Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study


[PMID 23592221] Shared genetic factors for age at natural menopause in Iranian and European women

GWAS snp
PMID [PMID 23307926OA-icon.png]
Trait Menopause (age at onset)
Title A genome-wide association study of early menopause and the combined impact of identified variants.
Risk Allele A
P-val 5E-12
Odds Ratio .46 [0.33-0.59] years decrease