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rs63750812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750812(A;A)
Make rs63750812(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position226885623
GenePSEN2
is asnp
is mentioned by
dbSNPrs63750812
ebirs63750812
HLIrs63750812
Exacrs63750812
Varsomers63750812
Maprs63750812
PheGenIrs63750812
hapmaprs63750812
1000 genomesrs63750812
hgdprs63750812
ensemblrs63750812
gopubmedrs63750812
geneviewrs63750812
scholarrs63750812
googlers63750812
pharmgkbrs63750812
gwascentralrs63750812
openSNPrs63750812
23andMers63750812
23andMe allrs63750812
SNP Nexus

SNPshotrs63750812
SNPdbers63750812
MSV3drs63750812
GWAS Ctlgrs63750812
Max Magnitude0
rs63750812, also known as V148I or Val148Ile, is a SNP in the presenilin PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63750812(A) allele is reported to be causative for early-onset Alzheimer's disease.[PMID 10732806] However, the AlzForum also reports that "No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in Aβ42 levels or the Aβ42/Aβ40 ratio", and in combination with the original report, this allele may be more of a predisposing than causative mutation.


ClinVar
Risk rs63750812(A;A)
Alt rs63750812(A;A)
Reference rs63750812(G;G)
Significance Untested
Disease not provided
Variation info
Gene PSEN2
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.227073324G>A
CLNSRC ClinVar Neurodegenerative Brain Diseases Group
CLNACC RCV000084263.1,