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rs267607525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607525(A;C)
Make rs267607525(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913342
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607525
dbSNP (classic)rs267607525
ClinGenrs267607525
ebirs267607525
HLIrs267607525
Exacrs267607525
Gnomadrs267607525
Varsomers267607525
LitVarrs267607525
Maprs267607525
PheGenIrs267607525
Biobankrs267607525
1000 genomesrs267607525
hgdprs267607525
ensemblrs267607525
geneviewrs267607525
scholarrs267607525
googlers267607525
pharmgkbrs267607525
gwascentralrs267607525
openSNPrs267607525
23andMers267607525
SNPshotrs267607525
SNPdbers267607525
MSV3drs267607525
GWAS Ctlgrs267607525
Max Magnitude0
ClinVar
Risk rs267607525(C;C)
Alt rs267607525(C;C)
Reference Rs267607525(A;A)
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.42990710T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056897.1, RCV000192134.1,