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rs60269890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60269890(C;C)
Make rs60269890(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913345
GeneGFAP
is asnp
is mentioned by
dbSNPrs60269890
dbSNP (classic)rs60269890
ClinGenrs60269890
ebirs60269890
HLIrs60269890
Exacrs60269890
Gnomadrs60269890
Varsomers60269890
LitVarrs60269890
Maprs60269890
PheGenIrs60269890
Biobankrs60269890
1000 genomesrs60269890
hgdprs60269890
ensemblrs60269890
geneviewrs60269890
scholarrs60269890
googlers60269890
pharmgkbrs60269890
gwascentralrs60269890
openSNPrs60269890
23andMers60269890
SNPshotrs60269890
SNPdbers60269890
MSV3drs60269890
GWAS Ctlgrs60269890
Max Magnitude0
ClinVar
Risk rs60269890(C;C)
Alt rs60269890(C;C)
Reference Rs60269890(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.42990713A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056896.1, RCV000192133.1,