rs59793293

Orientation

minus

Stabilized

minus

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

Make rs59793293(C;T)

Make rs59793293(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44915252

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs59793293
dbSNP (classic)	rs59793293
ClinGen	rs59793293
ebi	rs59793293
HLI	rs59793293
Exac	rs59793293
Gnomad	rs59793293
Varsome	rs59793293
LitVar	rs59793293
Map	rs59793293
PheGenI	rs59793293
Biobank	rs59793293
1000 genomes	rs59793293
hgdp	rs59793293
ensembl	rs59793293
geneview	rs59793293
scholar	rs59793293
google	rs59793293
pharmgkb	rs59793293
gwascentral	rs59793293
openSNP	rs59793293
23andMe	rs59793293
SNPshot	rs59793293
SNPdbe	rs59793293
MSV3d	rs59793293
GWAS Ctlg	rs59793293

Max Magnitude

0

OMIM	137780
Desc
Variant	0005
Related	also

ClinVar
Risk	rs59793293(A;A) rs59793293(G;G) rs59793293(T;T)
Alt	rs59793293(A;A) rs59793293(G;G) rs59793293(T;T)
Reference	Rs59793293(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.42992620G>A; NC_000017.10:g.42992620G>C; NC_000017.10:g.42992620G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017554.24, RCV000056868.2, RCV000056867.1, RCV000192109.1, RCV000056866.1,