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rs797044581

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044581(C;C)
Make rs797044581(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911779
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044581
dbSNP (classic)rs797044581
ClinGenrs797044581
ebirs797044581
HLIrs797044581
Exacrs797044581
Gnomadrs797044581
Varsomers797044581
LitVarrs797044581
Maprs797044581
PheGenIrs797044581
Biobankrs797044581
1000 genomesrs797044581
hgdprs797044581
ensemblrs797044581
geneviewrs797044581
scholarrs797044581
googlers797044581
pharmgkbrs797044581
gwascentralrs797044581
openSNPrs797044581
23andMers797044581
SNPshotrs797044581
SNPdbers797044581
MSV3drs797044581
GWAS Ctlgrs797044581
Max Magnitude0
ClinVar
Risk rs797044581(C;C)
Alt rs797044581(C;C)
Reference Rs797044581(G;G)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42989147C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000192147.1,