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rs267607519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607519(C;C)
Make rs267607519(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913310
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607519
dbSNP (classic)rs267607519
ClinGenrs267607519
ebirs267607519
HLIrs267607519
Exacrs267607519
Gnomadrs267607519
Varsomers267607519
LitVarrs267607519
Maprs267607519
PheGenIrs267607519
Biobankrs267607519
1000 genomesrs267607519
hgdprs267607519
ensemblrs267607519
geneviewrs267607519
scholarrs267607519
googlers267607519
pharmgkbrs267607519
gwascentralrs267607519
openSNPrs267607519
23andMers267607519
SNPshotrs267607519
SNPdbers267607519
MSV3drs267607519
GWAS Ctlgrs267607519
Max Magnitude0
ClinVar
Risk rs267607519(C;C)
Alt rs267607519(C;C)
Reference Rs267607519(T;T)
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.42990678A>G
CLNSRC
CLNACC RCV000056904.1, RCV000192140.1,