rs28932769

Orientation

minus

Stabilized

minus

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

Make rs28932769(C;C)

Make rs28932769(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44911308

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs28932769
dbSNP (classic)	rs28932769
ClinGen	rs28932769
ebi	rs28932769
HLI	rs28932769
Exac	rs28932769
Gnomad	rs28932769
Varsome	rs28932769
LitVar	rs28932769
Map	rs28932769
PheGenI	rs28932769
Biobank	rs28932769
1000 genomes	rs28932769
hgdp	rs28932769
ensembl	rs28932769
geneview	rs28932769
scholar	rs28932769
google	rs28932769
pharmgkb	rs28932769
gwascentral	rs28932769
openSNP	rs28932769
23andMe	rs28932769
SNPshot	rs28932769
SNPdbe	rs28932769
MSV3d	rs28932769
GWAS Ctlg	rs28932769

Max Magnitude

0

OMIM	137780
Desc	ALEXANDER DISEASE
Variant	0012
Related	also

ClinVar
Risk	rs28932769(C;C)
Alt	rs28932769(C;C)
Reference	Rs28932769(T;T)
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.42988676A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017561.31, RCV000056820.1,