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rs267607503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607503(C;T)
Make rs267607503(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911272
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607503
dbSNP (classic)rs267607503
ClinGenrs267607503
ebirs267607503
HLIrs267607503
Exacrs267607503
Gnomadrs267607503
Varsomers267607503
LitVarrs267607503
Maprs267607503
PheGenIrs267607503
Biobankrs267607503
1000 genomesrs267607503
hgdprs267607503
ensemblrs267607503
geneviewrs267607503
scholarrs267607503
googlers267607503
pharmgkbrs267607503
gwascentralrs267607503
openSNPrs267607503
23andMers267607503
SNPshotrs267607503
SNPdbers267607503
MSV3drs267607503
GWAS Ctlgrs267607503
Max Magnitude0
ClinVar
Risk rs267607503(T;T)
Alt rs267607503(T;T)
Reference Rs267607503(C;C)
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.42988640G>A
CLNSRC
CLNACC RCV000056827.1, RCV000192166.1,