rs57120761

Orientation

minus

Stabilized

minus

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

Make rs57120761(C;T)

Make rs57120761(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44915261

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs57120761
dbSNP (classic)	rs57120761
ClinGen	rs57120761
ebi	rs57120761
HLI	rs57120761
Exac	rs57120761
Gnomad	rs57120761
Varsome	rs57120761
LitVar	rs57120761
Map	rs57120761
PheGenI	rs57120761
Biobank	rs57120761
1000 genomes	rs57120761
hgdp	rs57120761
ensembl	rs57120761
geneview	rs57120761
scholar	rs57120761
google	rs57120761
pharmgkb	rs57120761
gwascentral	rs57120761
openSNP	rs57120761
23andMe	rs57120761
SNPshot	rs57120761
SNPdbe	rs57120761
MSV3d	rs57120761
GWAS Ctlg	rs57120761

Max Magnitude

0

OMIM	137780
Desc
Variant	0008
Related	also

ClinVar
Risk	rs57120761(G;G) rs57120761(T;T)
Alt	rs57120761(G;G) rs57120761(T;T)
Reference	Rs57120761(C;C)
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.42992629G>A; NC_000017.10:g.42992629G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017557.26, RCV000056863.1, RCV000056862.1, RCV000192106.1,