Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8 early-onset Alzheimer's disease; penetrance unclear
Make rs63750666(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226895521
GenePSEN2
is asnp
is mentioned by
dbSNPrs63750666
ebirs63750666
HLIrs63750666
Exacrs63750666
Varsomers63750666
Maprs63750666
PheGenIrs63750666
hapmaprs63750666
1000 genomesrs63750666
hgdprs63750666
ensemblrs63750666
gopubmedrs63750666
geneviewrs63750666
scholarrs63750666
googlers63750666
pharmgkbrs63750666
gwascentralrs63750666
openSNPrs63750666
23andMers63750666
23andMe allrs63750666
SNP Nexus

SNPshotrs63750666
SNPdbers63750666
MSV3drs63750666
GWAS Ctlgrs63750666
Max Magnitude8

rs63750666, also known as T430M or Thr430Met, is a SNP in the presenilin 2 PSEN2 gene.

Acting as an autosomal dominant, the rare rs63750666(T) allele has been suggested to lead to early-onset Alzheimer's disease. However, a sibling who shared this mutation with an Alzheimer's patient did not show signs of early-onset disease, so this mutation may have reduced penetrance.[PMID 12925374]

OMIM600759
Desc
Variant0004
Relatedalso


ClinVar
Risk rs63750666(T;T)
Alt rs63750666(T;T)
Reference rs63750666(C;C)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene ADCK3 PSEN2
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000001.10:g.227083222C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009396.3, RCV000084268.1,