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rs60551555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60551555(G;G)
Make rs60551555(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913325
GeneGFAP
is asnp
is mentioned by
dbSNPrs60551555
dbSNP (classic)rs60551555
ClinGenrs60551555
ebirs60551555
HLIrs60551555
Exacrs60551555
Gnomadrs60551555
Varsomers60551555
LitVarrs60551555
Maprs60551555
PheGenIrs60551555
Biobankrs60551555
1000 genomesrs60551555
hgdprs60551555
ensemblrs60551555
geneviewrs60551555
scholarrs60551555
googlers60551555
pharmgkbrs60551555
gwascentralrs60551555
openSNPrs60551555
23andMers60551555
SNPshotrs60551555
SNPdbers60551555
MSV3drs60551555
GWAS Ctlgrs60551555
Max Magnitude0
ClinVar
Risk rs60551555(G;G)
Alt rs60551555(G;G)
Reference Rs60551555(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.42990693A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056902.1, RCV000192138.1,