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rs63750264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 7 Alzheimer's disease mutation
(C;G) 7 Alzheimer's disease mutation
(G;G) 0 common in complete genomics
(G;T) 7 Alzheimer's disease mutation


Make rs63750264(A;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891784
GeneAPP
is asnp
is mentioned by
dbSNPrs63750264
dbSNP (old)rs63750264
ClinGenrs63750264
ebirs63750264
HLIrs63750264
Exacrs63750264
Varsomers63750264
Maprs63750264
PheGenIrs63750264
Biobankrs63750264
1000 genomesrs63750264
hgdprs63750264
ensemblrs63750264
gopubmedrs63750264
geneviewrs63750264
scholarrs63750264
googlers63750264
pharmgkbrs63750264
gwascentralrs63750264
openSNPrs63750264
23andMers63750264
23andMe allrs63750264
SNP Nexus

SNPshotrs63750264
SNPdbers63750264
MSV3drs63750264
GWAS Ctlgrs63750264
Max Magnitude7

Located in the APP gene, rs63750264 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.2149G>T is also known as p.Val717Phe or V717F; the c.2149G>A mutation is also known as p.Val717Ile or V716I; and the c.2149G>C mutation is known as p.Val717Leu or V717L.

All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease and are listed in OMIM and AlzForum.

OMIM104760
Desc
Variant0002
Relatedalso
ClinVar
Risk rs63750264(A;A) rs63750264(C;C) rs63750264(T;T)
Alt rs63750264(A;A) rs63750264(C;C) rs63750264(T;T)
Reference Rs63750264(G;G)
Significance Pathogenic
Disease Alzheimer disease Alzheimer's disease not provided
Variation info
Gene APP
CLNDBN Alzheimer disease, type 1 Alzheimer's disease not provided
Reversed 1
HGVS NC_000021.8:g.27264096C>A; NC_000021.8:g.27264096C>G; NC_000021.8:g.27264096C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019715.27, RCV000019733.27, RCV000019714.28, RCV000020308.2, RCV000084575.1,


[PMID 1678057] Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.


[PMID 1678058] Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.


[PMID 1679288OA-icon.png] APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.


[PMID 1908231] The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.


[PMID 8290965] Alzheimer's disease and possible gene interaction.