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rs60343255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60343255(C;T)
Make rs60343255(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915279
GeneGFAP
is asnp
is mentioned by
dbSNPrs60343255
dbSNP (classic)rs60343255
ClinGenrs60343255
ebirs60343255
HLIrs60343255
Exacrs60343255
Gnomadrs60343255
Varsomers60343255
LitVarrs60343255
Maprs60343255
PheGenIrs60343255
Biobankrs60343255
1000 genomesrs60343255
hgdprs60343255
ensemblrs60343255
geneviewrs60343255
scholarrs60343255
googlers60343255
pharmgkbrs60343255
gwascentralrs60343255
openSNPrs60343255
23andMers60343255
SNPshotrs60343255
SNPdbers60343255
MSV3drs60343255
GWAS Ctlgrs60343255
Max Magnitude0
ClinVar
Risk rs60343255(T;T)
Alt rs60343255(T;T)
Reference Rs60343255(C;C)
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.42992647G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000056855.1, RCV000192100.1,