rs58075601

Orientation

minus

Stabilized

minus

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

Make rs58075601(A;A)

Make rs58075601(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44911246

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs58075601
dbSNP (classic)	rs58075601
ClinGen	rs58075601
ebi	rs58075601
HLI	rs58075601
Exac	rs58075601
Gnomad	rs58075601
Varsome	rs58075601
LitVar	rs58075601
Map	rs58075601
PheGenI	rs58075601
Biobank	rs58075601
1000 genomes	rs58075601
hgdp	rs58075601
ensembl	rs58075601
geneview	rs58075601
scholar	rs58075601
google	rs58075601
pharmgkb	rs58075601
gwascentral	rs58075601
openSNP	rs58075601
23andMe	rs58075601
SNPshot	rs58075601
SNPdbe	rs58075601
MSV3d	rs58075601
GWAS Ctlg	rs58075601

Max Magnitude

0

ClinVar
Risk	rs58075601(A;A) rs58075601(C;C)
Alt	rs58075601(A;A) rs58075601(C;C)
Reference	Rs58075601(G;G)
Significance	Pathogenic
Disease	not provided Alexander's disease
Variation	info
Gene	GFAP
CLNDBN	not provided Alexander's disease
Reversed	1
HGVS	NC_000017.10:g.42988614C>G; NC_000017.10:g.42988614C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056834.1, RCV000192174.1, RCV000056833.2, RCV000192173.1,