rs59628143

Orientation

minus

Stabilized

minus

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

Make rs59628143(A;G)

Make rs59628143(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44911242

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs59628143
dbSNP (classic)	rs59628143
ClinGen	rs59628143
ebi	rs59628143
HLI	rs59628143
Exac	rs59628143
Gnomad	rs59628143
Varsome	rs59628143
LitVar	rs59628143
Map	rs59628143
PheGenI	rs59628143
Biobank	rs59628143
1000 genomes	rs59628143
hgdp	rs59628143
ensembl	rs59628143
geneview	rs59628143
scholar	rs59628143
google	rs59628143
pharmgkb	rs59628143
gwascentral	rs59628143
openSNP	rs59628143
23andMe	rs59628143
SNPshot	rs59628143
SNPdbe	rs59628143
MSV3d	rs59628143
GWAS Ctlg	rs59628143

Max Magnitude

0

ClinVar
Risk	rs59628143(G;G)
Alt	rs59628143(G;G)
Reference	Rs59628143(A;A)
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.42988610T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056835.1, RCV000192176.1,