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rs58536923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs58536923(A;G)
Make rs58536923(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911743
GeneGFAP
is asnp
is mentioned by
dbSNPrs58536923
dbSNP (classic)rs58536923
ClinGenrs58536923
ebirs58536923
HLIrs58536923
Exacrs58536923
Gnomadrs58536923
Varsomers58536923
LitVarrs58536923
Maprs58536923
PheGenIrs58536923
Biobankrs58536923
1000 genomesrs58536923
hgdprs58536923
ensemblrs58536923
geneviewrs58536923
scholarrs58536923
googlers58536923
pharmgkbrs58536923
gwascentralrs58536923
openSNPrs58536923
23andMers58536923
SNPshotrs58536923
SNPdbers58536923
MSV3drs58536923
GWAS Ctlgrs58536923
Max Magnitude0
ClinVar
Risk rs58536923(G;G)
Alt rs58536923(G;G)
Reference Rs58536923(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.42989111T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056911.1, RCV000192149.1,