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rs63751272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 7 Alzheimer's disease
(A;T) 7 Alzheimer's disease
Make rs63751272(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73173587
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751272
ClinGenrs63751272
ebirs63751272
HLIrs63751272
Exacrs63751272
Varsomers63751272
Maprs63751272
PheGenIrs63751272
hapmaprs63751272
1000 genomesrs63751272
hgdprs63751272
ensemblrs63751272
gopubmedrs63751272
geneviewrs63751272
scholarrs63751272
googlers63751272
pharmgkbrs63751272
gwascentralrs63751272
openSNPrs63751272
23andMers63751272
23andMe allrs63751272
SNP Nexus

SNPshotrs63751272
SNPdbers63751272
MSV3drs63751272
GWAS Ctlgrs63751272
Max Magnitude7

rs63751272, also known as c.360A>C, c.360A>T, E120D, or p.Glu120Asp, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63751272(T) and rs63751272(C) alleles are both considered pathogenic for early-onset Alzheimer's disease according to ClinVar, OMIM and/or AlzForum.

23andMe name for c.360A>T variant: i5047575

Glu120Asp is reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

OMIM104311
Desc
Variant0013
Relatedalso
ClinVar
Risk rs63751272(T;T)
Alt rs63751272(T;T)
Reference Rs63751272(A;A)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73640295A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019765.27, RCV000084300.1,