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rs63750307

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATCATG) 8 Early-onset Alzheimer's disease (predicted)
(ATCATG;ATCATG) 0 common/normal


Make rs63750307(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73170956
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750307
dbSNP (old)rs63750307
ClinGenrs63750307
ebirs63750307
HLIrs63750307
Exacrs63750307
Gnomadrs63750307
Varsomers63750307
Maprs63750307
PheGenIrs63750307
Biobankrs63750307
1000 genomesrs63750307
hgdprs63750307
ensemblrs63750307
gopubmedrs63750307
geneviewrs63750307
scholarrs63750307
googlers63750307
pharmgkbrs63750307
gwascentralrs63750307
openSNPrs63750307
23andMers63750307
23andMe allrs63750307
SNPshotrs63750307
SNPdbers63750307
MSV3drs63750307
GWAS Ctlgrs63750307
Max Magnitude8

rs63750307, also known as DellM, I83_M84del, and c.247_252delATCATG, represents a mutation in the PSEN1 gene on chromosome 14.

This deletion, located in exon 4 of the PSEN1 gene, is considered to be a dominant mutation pathogenic for early-onset Alzheimer's disease.[PMID 11079548],[PMID 11084029OA-icon.png]

See also: AlzForum