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rs797044582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044582(A;A)
Make rs797044582(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911775
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044582
dbSNP (classic)rs797044582
ClinGenrs797044582
ebirs797044582
HLIrs797044582
Exacrs797044582
Gnomadrs797044582
Varsomers797044582
LitVarrs797044582
Maprs797044582
PheGenIrs797044582
Biobankrs797044582
1000 genomesrs797044582
hgdprs797044582
ensemblrs797044582
geneviewrs797044582
scholarrs797044582
googlers797044582
pharmgkbrs797044582
gwascentralrs797044582
openSNPrs797044582
23andMers797044582
SNPshotrs797044582
SNPdbers797044582
MSV3drs797044582
GWAS Ctlgrs797044582
Max Magnitude0
ClinVar
Risk rs797044582(A;A)
Alt rs797044582(A;A)
Reference Rs797044582(C;C)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42989143G>T
CLNSRC
CLNACC RCV000192148.1,