rs63750921

Orientation

minus

Stabilized

minus

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

Make rs63750921(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

25891820

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63750921
dbSNP (classic)	rs63750921
ClinGen	rs63750921
ebi	rs63750921
HLI	rs63750921
Exac	rs63750921
Gnomad	rs63750921
Varsome	rs63750921
LitVar	rs63750921
Map	rs63750921
PheGenI	rs63750921
Biobank	rs63750921
1000 genomes	rs63750921
hgdp	rs63750921
ensembl	rs63750921
geneview	rs63750921
scholar	rs63750921
google	rs63750921
pharmgkb	rs63750921
gwascentral	rs63750921
openSNP	rs63750921
23andMe	rs63750921
SNPshot	rs63750921
SNPdbe	rs63750921
MSV3d	rs63750921
GWAS Ctlg	rs63750921

Max Magnitude

6

APP gene mutation known as c.2113C>G, p.Leu705Val or L705V

Reported as pathogenic in ClinVar, OMIM and AlzForum for cerebral amyloid angiopathy.

OMIM	104760
Desc
Variant	0019
Related	also

ClinVar
Risk	rs63750921(G;G)
Alt	rs63750921(G;G)
Reference	Rs63750921(C;C)
Significance	Pathogenic
Disease	CEREBRAL AMYLOID ANGIOPATHY not provided
Variation	info
Gene	APP
CLNDBN	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT not provided
Reversed	1
HGVS	NC_000021.8:g.27264132G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019731.26, RCV000084565.1,