rs121909719

Orientation

minus

Stabilized

minus

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

Make rs121909719(G;T)

Make rs121909719(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44911751

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs121909719
dbSNP (classic)	rs121909719
ClinGen	rs121909719
ebi	rs121909719
HLI	rs121909719
Exac	rs121909719
Gnomad	rs121909719
Varsome	rs121909719
LitVar	rs121909719
Map	rs121909719
PheGenI	rs121909719
Biobank	rs121909719
1000 genomes	rs121909719
hgdp	rs121909719
ensembl	rs121909719
geneview	rs121909719
scholar	rs121909719
google	rs121909719
pharmgkb	rs121909719
gwascentral	rs121909719
openSNP	rs121909719
23andMe	rs121909719
SNPshot	rs121909719
SNPdbe	rs121909719
MSV3d	rs121909719
GWAS Ctlg	rs121909719

Merged from

Rs28933071

Max Magnitude

0

OMIM	137780
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121909719(T;T)
Alt	rs121909719(T;T)
Reference	Rs121909719(G;G)
Significance	Pathogenic
Disease	Alexander's disease not provided
Variation	info
Gene	GFAP
CLNDBN	Alexander's disease not provided
Reversed	1
HGVS	NC_000017.10:g.42989119C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017560.30, RCV000056910.1,