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rs267607505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607505(A;G)
Make rs267607505(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913279
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607505
dbSNP (classic)rs267607505
ClinGenrs267607505
ebirs267607505
HLIrs267607505
Exacrs267607505
Gnomadrs267607505
Varsomers267607505
LitVarrs267607505
Maprs267607505
PheGenIrs267607505
Biobankrs267607505
1000 genomesrs267607505
hgdprs267607505
ensemblrs267607505
geneviewrs267607505
scholarrs267607505
googlers267607505
pharmgkbrs267607505
gwascentralrs267607505
openSNPrs267607505
23andMers267607505
SNPshotrs267607505
SNPdbers267607505
MSV3drs267607505
GWAS Ctlgrs267607505
Max Magnitude0
ClinVar
Risk rs267607505(G;G)
Alt rs267607505(G;G)
Reference Rs267607505(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.42990647T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056907.1, RCV000192142.1,