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

rs63750973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8 Considered pathogenic for an early-onset form of Alzheimer's disease
Make rs63750973(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891792
GeneAPP
is asnp
is mentioned by
dbSNPrs63750973
dbSNP (old)rs63750973
ClinGenrs63750973
ebirs63750973
HLIrs63750973
Exacrs63750973
Gnomadrs63750973
Varsomers63750973
Maprs63750973
PheGenIrs63750973
Biobankrs63750973
1000 genomesrs63750973
hgdprs63750973
ensemblrs63750973
gopubmedrs63750973
geneviewrs63750973
scholarrs63750973
googlers63750973
pharmgkbrs63750973
gwascentralrs63750973
openSNPrs63750973
23andMers63750973
23andMe allrs63750973
SNP Nexus

SNPshotrs63750973
SNPdbers63750973
MSV3drs63750973
GWAS Ctlgrs63750973
Max Magnitude8

rs63750973, also known as c.2141C>T, p.Thr714Ile or T714I, represents a rare mutation in the APP gene.

Inherited dominantly, the rare minor allele is considered pathogenic for an aggressive, early-onset form of Alzheimer's disease; for more information, see ClinVar, AlzForum or OMIM.

OMIM104760
Desc
Variant0015
Relatedalso


ClinVar
Risk rs63750973(T;T)
Alt rs63750973(T;T)
Reference Rs63750973(C;C)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene APP
CLNDBN Alzheimer disease, type 1 not provided
Reversed 1
HGVS NC_000021.8:g.27264104G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019728.26, RCV000084569.1,