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rs58008462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58008462(C;C)
Make rs58008462(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911267
GeneGFAP
is asnp
is mentioned by
dbSNPrs58008462
dbSNP (classic)rs58008462
ClinGenrs58008462
ebirs58008462
HLIrs58008462
Exacrs58008462
Gnomadrs58008462
Varsomers58008462
LitVarrs58008462
Maprs58008462
PheGenIrs58008462
Biobankrs58008462
1000 genomesrs58008462
hgdprs58008462
ensemblrs58008462
geneviewrs58008462
scholarrs58008462
googlers58008462
pharmgkbrs58008462
gwascentralrs58008462
openSNPrs58008462
23andMers58008462
SNPshotrs58008462
SNPdbers58008462
MSV3drs58008462
GWAS Ctlgrs58008462
Max Magnitude0
ClinVar
Risk rs58008462(C;C)
Alt rs58008462(C;C)
Reference Rs58008462(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.42988635A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056828.1, RCV000192167.1,