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

rs63750197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.6 likely miscall for 23andMe users; otherwise, possible Alzheimer's disease association but causation unclear; dilated cardiomyopathy
Make rs63750197(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226885570
GenePSEN2
is asnp
is mentioned by
dbSNPrs63750197
ebirs63750197
HLIrs63750197
Exacrs63750197
Varsomers63750197
Maprs63750197
PheGenIrs63750197
hapmaprs63750197
1000 genomesrs63750197
hgdprs63750197
ensemblrs63750197
gopubmedrs63750197
geneviewrs63750197
scholarrs63750197
googlers63750197
pharmgkbrs63750197
gwascentralrs63750197
openSNPrs63750197
23andMers63750197
23andMe allrs63750197
SNP Nexus

SNPshotrs63750197
SNPdbers63750197
MSV3drs63750197
GWAS Ctlgrs63750197
GMAF0.001377
Max Magnitude6.6

rs63750197, also known as S130L or Ser130Leu, is a SNP in the presenilin 2 PSEN2 gene.

Although based on small numbers of patients, the rare rs63750197(T) allele has been reported to be associated with both Alzheimer's disease and a form of dilated cardiomyopathy.[PMID 14623725OA-icon.png],[PMID 17186461OA-icon.png]

However, the Alzheimer pathogenicity is considered "unclear", and while the evidence for involvement with dilated cardiomyopathy evidence is strong, the condition has incomplete penetrance. An excellent overview of research to date on this mutation is here on the AlzForum.

Additionally, Promethease reports from 23andMe customers have a significantly higher frequency of (C;T) genotype calls than would be expected based on the rarity of this mutation. It is therefore likely that this genotype is being miscalled for a high percentage of 23andMe users. If customers with data from other companies, especially ones using Illumina DNA arrays, see a (C;T) genotype call in their data or in their Promethease report they are asked to contact us.

OMIM600759
Desc
Variant0008
Relatedalso


ClinVar
Risk rs63750197(T;T)
Alt rs63750197(T;T)
Reference rs63750197(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1V Alzheimer disease not provided Alzheimer's disease
Variation info
Gene PSEN2
CLNDBN Dilated cardiomyopathy 1V Alzheimer disease, type 4 not provided Alzheimer's disease
Reversed 0
HGVS NC_000001.10:g.227073271C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009400.3, RCV000009401.3, RCV000084261.1, RCV000172588.1,