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rs63749967

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 7 Alzheimer's disease (reported)
(G;G) 0 common/normal


Make rs63749967(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73170953
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749967
dbSNP (old)rs63749967
ClinGenrs63749967
ebirs63749967
HLIrs63749967
Exacrs63749967
Gnomadrs63749967
Varsomers63749967
Maprs63749967
PheGenIrs63749967
Biobankrs63749967
1000 genomesrs63749967
hgdprs63749967
ensemblrs63749967
gopubmedrs63749967
geneviewrs63749967
scholarrs63749967
googlers63749967
pharmgkbrs63749967
gwascentralrs63749967
openSNPrs63749967
23andMers63749967
23andMe allrs63749967
SNPshotrs63749967
SNPdbers63749967
MSV3drs63749967
GWAS Ctlgrs63749967
Max Magnitude7
rs63749967, also known as c.244G>C, p.Val82Leu or V82L, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749967(C) allele is considered pathogenic for Alzheimer's disease, potentially early-onset, according to AlzForum.

Reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.


ClinVar
Risk rs63749967(C;C)
Alt rs63749967(C;C)
Reference Rs63749967(G;G)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73637661G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000084282.1,