rs121909720

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121909720(A;A)

Make rs121909720(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44915253

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs121909720
dbSNP (classic)	rs121909720
ClinGen	rs121909720
ebi	rs121909720
HLI	rs121909720
Exac	rs121909720
Gnomad	rs121909720
Varsome	rs121909720
LitVar	rs121909720
Map	rs121909720
PheGenI	rs121909720
Biobank	rs121909720
1000 genomes	rs121909720
hgdp	rs121909720
ensembl	rs121909720
geneview	rs121909720
scholar	rs121909720
google	rs121909720
pharmgkb	rs121909720
gwascentral	rs121909720
openSNP	rs121909720
23andMe	rs121909720
SNPshot	rs121909720
SNPdbe	rs121909720
MSV3d	rs121909720
GWAS Ctlg	rs121909720

Max Magnitude

0

OMIM	137780
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121909720(A;A)
Alt	rs121909720(A;A)
Reference	Rs121909720(C;C)
Significance	Pathogenic
Disease	Alexander's disease
Variation	info
Gene	GFAP
CLNDBN	Alexander's disease
Reversed	1
HGVS	NC_000017.10:g.42992621G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017562.32,