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rs5984894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
Make rs5984894(A;A)
Make rs5984894(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position92138738
GenePCDH11X
is asnp
is mentioned by
dbSNPrs5984894
ebirs5984894
HLIrs5984894
Exacrs5984894
Varsomers5984894
Maprs5984894
PheGenIrs5984894
hapmaprs5984894
1000 genomesrs5984894
hgdprs5984894
ensemblrs5984894
gopubmedrs5984894
geneviewrs5984894
scholarrs5984894
googlers5984894
pharmgkbrs5984894
gwascentralrs5984894
openSNPrs5984894
23andMers5984894
23andMe allrs5984894
SNP Nexus

SNPshotrs5984894
SNPdbers5984894
MSV3drs5984894
GWAS Ctlgrs5984894
GMAF0.4051
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs5984894 is a SNP located within an intron of the protocadherin 11 PCDH11X gene, on the X chromosome.

A study of 2,391 patients with late-onset Alzheimer's disease reports that rs5984894 is particularly associated with increased risk for the disease in females, as compared to males. In this study, the patients were Americans of European descent, and 62% were female. Odds ratios were 1.75 (CI: 1.42–2.16) for female homozygotes (p = 2 x 10e-7) and 1.26 (CI: 1.05–1.51) for female heterozygotes (p = 0.01) compared to rs5984894(G;G) females.[PMID 19136949OA-icon.png]

For male rs5984894(-;A) hemizygotes (p = 0.07, which may mean this is insignificant since it is above the traditional cut-off of 0.05) compared to male rs5984894(-;G) noncarriers, the odds ratio was 1.18 (CI: 0.99–1.41).[PMID 19136949OA-icon.png]

A more recent and independent - but also smaller - study found no association between late-onset Alzheimer disease and rs5984894 in a dataset of 889 cases and 850 controls, indicating that "the PCDH11X association, if not a false positive, is not as strong or generalized as hypothesized earlier".[PMID 20523261OA-icon.png]

OMIM300756
DescALZHEIMER DISEASE 16; AD16
Variant
Relatedalso


[PMID 20555150] Failure to Replicate an Association of rs5984894 SNP in the PCDH11X Gene in a Collection of 1,222 Alzheimer's Disease Affected Patients

[PMID 20707987] Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population

[PMID 19734902OA-icon.png] Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

[PMID 20574532OA-icon.png] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.


[PMID 26680604] Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China.