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rs63750579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 7 Cerebral Amyloid Angiopathy
(C;G) 6 Cerebral Amyloid Angiopathy
(G;G) 0 common in clinvar


Make rs63750579(C;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891856
GeneAPP
is asnp
is mentioned by
dbSNPrs63750579
dbSNP (classic)rs63750579
ClinGenrs63750579
ebirs63750579
HLIrs63750579
Exacrs63750579
Gnomadrs63750579
Varsomers63750579
LitVarrs63750579
Maprs63750579
PheGenIrs63750579
Biobankrs63750579
1000 genomesrs63750579
hgdprs63750579
ensemblrs63750579
geneviewrs63750579
scholarrs63750579
googlers63750579
pharmgkbrs63750579
gwascentralrs63750579
openSNPrs63750579
23andMers63750579
SNPshotrs63750579
SNPdbers63750579
MSV3drs63750579
GWAS Ctlgrs63750579
Max Magnitude7

APP gene mutations: either c.2077G>A, p.Glu693Lys and E693K, or, c.2077G>C, p.Glu693Gln and E693Q. The former is also known as the 'Italian' variant and the latter as the 'Dutch' variant.

Both are reported in OMIM and AlzForum as pathogenic for cerebral amyloid angiopathy; the Italian variant is reported to have an onset at a significantly later age than the Dutch variant.

OMIM104760
Desc
Variant0001
Relatedalso
OMIM104760
Desc
Variant0014
Relatedalso
ClinVar
Risk rs63750579(A;A) rs63750579(C;C)
Alt rs63750579(A;A) rs63750579(C;C)
Reference Rs63750579(G;G)
Significance Pathogenic
Disease Cerebral amyloid angiopathy not provided
Variation info
Gene APP
CLNDBN Cerebral amyloid angiopathy, APP-related not provided
Reversed 1
HGVS NC_000021.8:g.27264168C>G; NC_000021.8:g.27264168C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019713.27, RCV000019727.27, RCV000084562.1,