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rs63751068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 9 Picks disease of the brain
Make rs63751068(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73186920
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751068
ebirs63751068
HLIrs63751068
Exacrs63751068
Varsomers63751068
Maprs63751068
PheGenIrs63751068
hapmaprs63751068
1000 genomesrs63751068
hgdprs63751068
ensemblrs63751068
gopubmedrs63751068
geneviewrs63751068
scholarrs63751068
googlers63751068
pharmgkbrs63751068
gwascentralrs63751068
openSNPrs63751068
23andMers63751068
23andMe allrs63751068
SNP Nexus

SNPshotrs63751068
SNPdbers63751068
MSV3drs63751068
GWAS Ctlgrs63751068
Max Magnitude9

rs63751068, also known as G183V or Gly183Val, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751068(T) allele is considered causative for Pick's disease of the brain.[PMID 9915968OA-icon.png]

OMIM104311
DescPick's disease
Variant0027
Relatedalso


ClinVar
Risk rs63751068(T;T)
Alt rs63751068(T;T)
Reference rs63751068(G;G)
Significance Pathogenic
Disease Pick's disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Pick's disease Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73653628G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019779.27, RCV000020085.1, RCV000084335.1,



[PMID 15122701] A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.