rs58064122

Orientation

minus

Stabilized

minus

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

Make rs58064122(C;T)

Make rs58064122(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44913334

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs58064122
dbSNP (classic)	rs58064122
ClinGen	rs58064122
ebi	rs58064122
HLI	rs58064122
Exac	rs58064122
Gnomad	rs58064122
Varsome	rs58064122
LitVar	rs58064122
Map	rs58064122
PheGenI	rs58064122
Biobank	rs58064122
1000 genomes	rs58064122
hgdp	rs58064122
ensembl	rs58064122
geneview	rs58064122
scholar	rs58064122
google	rs58064122
pharmgkb	rs58064122
gwascentral	rs58064122
openSNP	rs58064122
23andMe	rs58064122
SNPshot	rs58064122
SNPdbe	rs58064122
MSV3d	rs58064122
GWAS Ctlg	rs58064122

Max Magnitude

0

OMIM	137780
Desc
Variant	0001
Related	also

ClinVar
Risk	rs58064122(G;G) rs58064122(T;T)
Alt	rs58064122(G;G) rs58064122(T;T)
Reference	Rs58064122(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.42990702G>A; NC_000017.10:g.42990702G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017550.26, RCV000056898.2, RCV000192135.1,