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rs267607516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607516(C;C)
Make rs267607516(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915185
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607516
dbSNP (classic)rs267607516
ClinGenrs267607516
ebirs267607516
HLIrs267607516
Exacrs267607516
Gnomadrs267607516
Varsomers267607516
LitVarrs267607516
Maprs267607516
PheGenIrs267607516
Biobankrs267607516
1000 genomesrs267607516
hgdprs267607516
ensemblrs267607516
geneviewrs267607516
scholarrs267607516
googlers267607516
pharmgkbrs267607516
gwascentralrs267607516
openSNPrs267607516
23andMers267607516
SNPshotrs267607516
SNPdbers267607516
MSV3drs267607516
GWAS Ctlgrs267607516
Max Magnitude0
ClinVar
Risk rs267607516(C;C)
Alt rs267607516(C;C)
Reference Rs267607516(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.42992553A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056882.1, RCV000192123.1,