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rs797044579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044579(C;C)
Make rs797044579(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911787
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044579
dbSNP (classic)rs797044579
ClinGenrs797044579
ebirs797044579
HLIrs797044579
Exacrs797044579
Gnomadrs797044579
Varsomers797044579
LitVarrs797044579
Maprs797044579
PheGenIrs797044579
Biobankrs797044579
1000 genomesrs797044579
hgdprs797044579
ensemblrs797044579
geneviewrs797044579
scholarrs797044579
googlers797044579
pharmgkbrs797044579
gwascentralrs797044579
openSNPrs797044579
23andMers797044579
SNPshotrs797044579
SNPdbers797044579
MSV3drs797044579
GWAS Ctlgrs797044579
Max Magnitude0
ClinVar
Risk rs797044579(C;C)
Alt rs797044579(C;C)
Reference Rs797044579(T;T)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42989155A>G
CLNSRC
CLNACC RCV000192145.1,