rs59565950

Orientation

minus

Stabilized

minus

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

Make rs59565950(A;A)

Make rs59565950(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44913333

Gene

GFAP

is a	snp
is	mentioned by
dbSNP	rs59565950
dbSNP (classic)	rs59565950
ClinGen	rs59565950
ebi	rs59565950
HLI	rs59565950
Exac	rs59565950
Gnomad	rs59565950
Varsome	rs59565950
LitVar	rs59565950
Map	rs59565950
PheGenI	rs59565950
Biobank	rs59565950
1000 genomes	rs59565950
hgdp	rs59565950
ensembl	rs59565950
geneview	rs59565950
scholar	rs59565950
google	rs59565950
pharmgkb	rs59565950
gwascentral	rs59565950
openSNP	rs59565950
23andMe	rs59565950
SNPshot	rs59565950
SNPdbe	rs59565950
MSV3d	rs59565950
GWAS Ctlg	rs59565950

Max Magnitude

0

OMIM	137780
Desc
Variant	0002
Related	also

ClinVar
Risk	rs59565950(A;A) rs59565950(C;C) rs59565950(T;T)
Alt	rs59565950(A;A) rs59565950(C;C) rs59565950(T;T)
Reference	Rs59565950(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.42990701C>A; NC_000017.10:g.42990701C>G; NC_000017.10:g.42990701C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000056901.1, RCV000192137.1, RCV000056900.1, RCV000192136.1, RCV000017551.30, RCV000056899.2,