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rs63750048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 9 early-onset Alzheimers disease (atypical)
Make rs63750048(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226883817
GenePSEN2
is asnp
is mentioned by
dbSNPrs63750048
ebirs63750048
HLIrs63750048
Exacrs63750048
Varsomers63750048
Maprs63750048
PheGenIrs63750048
hapmaprs63750048
1000 genomesrs63750048
hgdprs63750048
ensemblrs63750048
gopubmedrs63750048
geneviewrs63750048
scholarrs63750048
googlers63750048
pharmgkbrs63750048
gwascentralrs63750048
openSNPrs63750048
23andMers63750048
23andMe allrs63750048
SNP Nexus

SNPshotrs63750048
SNPdbers63750048
MSV3drs63750048
GWAS Ctlgrs63750048
Max Magnitude9

rs63750048, also known as A85V or Ala85Val, is a SNP in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63750048(T) allele is reported to lead to an atypical early-onset Alzheimer's disease.[PMID 18427071]

OMIM600759
Desc
Variant0009
Relatedalso


ClinVar
Risk rs63750048(T;T)
Alt rs63750048(T;T)
Reference rs63750048(C;C)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN2
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000001.10:g.227071518C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009402.4, RCV000084259.1,