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rs267607526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607526(C;C)
Make rs267607526(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911252
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607526
dbSNP (classic)rs267607526
ClinGenrs267607526
ebirs267607526
HLIrs267607526
Exacrs267607526
Gnomadrs267607526
Varsomers267607526
LitVarrs267607526
Maprs267607526
PheGenIrs267607526
Biobankrs267607526
1000 genomesrs267607526
hgdprs267607526
ensemblrs267607526
geneviewrs267607526
scholarrs267607526
googlers267607526
pharmgkbrs267607526
gwascentralrs267607526
openSNPrs267607526
23andMers267607526
SNPshotrs267607526
SNPdbers267607526
MSV3drs267607526
GWAS Ctlgrs267607526
Max Magnitude0
ClinVar
Risk rs267607526(C;C)
Alt rs267607526(C;C)
Reference Rs267607526(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.42988620C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056830.1, RCV000192169.1,