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rs797044587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044587(C;G)
Make rs797044587(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911289
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044587
dbSNP (classic)rs797044587
ClinGenrs797044587
ebirs797044587
HLIrs797044587
Exacrs797044587
Gnomadrs797044587
Varsomers797044587
LitVarrs797044587
Maprs797044587
PheGenIrs797044587
Biobankrs797044587
1000 genomesrs797044587
hgdprs797044587
ensemblrs797044587
geneviewrs797044587
scholarrs797044587
googlers797044587
pharmgkbrs797044587
gwascentralrs797044587
openSNPrs797044587
23andMers797044587
SNPshotrs797044587
SNPdbers797044587
MSV3drs797044587
GWAS Ctlgrs797044587
Max Magnitude0
ClinVar
Risk rs797044587(G;G)
Alt rs797044587(G;G)
Reference Rs797044587(C;C)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42988657G>C
CLNSRC
CLNACC RCV000192159.1,