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rs267607506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607506(C;C)
Make rs267607506(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915240
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607506
dbSNP (classic)rs267607506
ClinGenrs267607506
ebirs267607506
HLIrs267607506
Exacrs267607506
Gnomadrs267607506
Varsomers267607506
LitVarrs267607506
Maprs267607506
PheGenIrs267607506
Biobankrs267607506
1000 genomesrs267607506
hgdprs267607506
ensemblrs267607506
geneviewrs267607506
scholarrs267607506
googlers267607506
pharmgkbrs267607506
gwascentralrs267607506
openSNPrs267607506
23andMers267607506
SNPshotrs267607506
SNPdbers267607506
MSV3drs267607506
GWAS Ctlgrs267607506
Max Magnitude0
ClinVar
Risk rs267607506(A;A) rs267607506(C;C)
Alt rs267607506(A;A) rs267607506(C;C)
Reference Rs267607506(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.42992608A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056872.1, RCV000192114.1,