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rs63750487

From SNPedia

Orientationplus
Make rs63750487(C;C)
Make rs63750487(C;T)
Make rs63750487(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position73192771
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750487
ebirs63750487
HLIrs63750487
Exacrs63750487
Varsomers63750487
Maprs63750487
PheGenIrs63750487
hapmaprs63750487
1000 genomesrs63750487
hgdprs63750487
ensemblrs63750487
gopubmedrs63750487
geneviewrs63750487
scholarrs63750487
googlers63750487
pharmgkbrs63750487
gwascentralrs63750487
openSNPrs63750487
23andMers63750487
23andMe allrs63750487
SNP Nexus

SNPshotrs63750487
SNPdbers63750487
MSV3drs63750487
GWAS Ctlgrs63750487
Max Magnitude
rs63750487, also known as c.676C>T, p.Leu226Phe and L226F, represents a rare mutation in the PSEN1 gene.

The rs63750487(T) allele has been reported to be a dominant mutation leading with high penetrance to early-onset Alzheimer's disease.10.2147/CIA.S111821