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

rs200754713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 7 Frontotemporal dementia (reported)
Make rs200754713(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position226888954
GenePSEN2
is asnp
is mentioned by
dbSNPrs200754713
ClinGenrs200754713
ebirs200754713
HLIrs200754713
Exacrs200754713
Varsomers200754713
Maprs200754713
PheGenIrs200754713
hapmaprs200754713
1000 genomesrs200754713
hgdprs200754713
ensemblrs200754713
gopubmedrs200754713
geneviewrs200754713
scholarrs200754713
googlers200754713
pharmgkbrs200754713
gwascentralrs200754713
openSNPrs200754713
23andMers200754713
23andMe allrs200754713
SNP Nexus

SNPshotrs200754713
SNPdbers200754713
MSV3drs200754713
GWAS Ctlgrs200754713
Max Magnitude7
rs200754713, also known as c.692A>G, Y231C or Tyr231Cys, is a SNP in the presenilin 2 PSEN2 gene.


The rare rs200754713(G) allele is considered pathogenic as an autosomal dominant for Frontotemporal dementia; a patient with this allele was described as exhibiting behavioral abnormalities and language impairment.[PMID 19276543]. See also AlzForum.