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rs60449251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60449251(G;G)
Make rs60449251(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915227
GeneGFAP
is asnp
is mentioned by
dbSNPrs60449251
dbSNP (classic)rs60449251
ClinGenrs60449251
ebirs60449251
HLIrs60449251
Exacrs60449251
Gnomadrs60449251
Varsomers60449251
LitVarrs60449251
Maprs60449251
PheGenIrs60449251
Biobankrs60449251
1000 genomesrs60449251
hgdprs60449251
ensemblrs60449251
geneviewrs60449251
scholarrs60449251
googlers60449251
pharmgkbrs60449251
gwascentralrs60449251
openSNPrs60449251
23andMers60449251
SNPshotrs60449251
SNPdbers60449251
MSV3drs60449251
GWAS Ctlgrs60449251
Max Magnitude0
ClinVar
Risk rs60449251(G;G)
Alt rs60449251(G;G)
Reference Rs60449251(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.42992595A>C
CLNSRC
CLNACC RCV000056877.1, RCV000192119.1,