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rs63750299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 7 Alzheimer's disease
(T;T) 0 common/normal


Make rs63750299(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73186890
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750299
dbSNP (classic)rs63750299
ClinGenrs63750299
ebirs63750299
HLIrs63750299
Exacrs63750299
Gnomadrs63750299
Varsomers63750299
LitVarrs63750299
Maprs63750299
PheGenIrs63750299
Biobankrs63750299
1000 genomesrs63750299
hgdprs63750299
ensemblrs63750299
geneviewrs63750299
scholarrs63750299
googlers63750299
pharmgkbrs63750299
gwascentralrs63750299
openSNPrs63750299
23andMers63750299
23andMe allrs63750299
SNPshotrs63750299
SNPdbers63750299
MSV3drs63750299
GWAS Ctlgrs63750299
Max Magnitude7

rs63750299, also known as c.518T>G, L173W or Leu173Trp, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63750299(G) allele is considered pathogenic for early-onset Alzheimer's disease according to AlzForum.

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


ClinVar
Risk rs63750299(G;G)
Alt rs63750299(G;G)
Reference Rs63750299(T;T)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73653598T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000084328.1,