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rs797044570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044570(A;A)
Make rs797044570(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915282
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044570
dbSNP (classic)rs797044570
ClinGenrs797044570
ebirs797044570
HLIrs797044570
Exacrs797044570
Gnomadrs797044570
Varsomers797044570
LitVarrs797044570
Maprs797044570
PheGenIrs797044570
Biobankrs797044570
1000 genomesrs797044570
hgdprs797044570
ensemblrs797044570
geneviewrs797044570
scholarrs797044570
googlers797044570
pharmgkbrs797044570
gwascentralrs797044570
openSNPrs797044570
23andMers797044570
SNPshotrs797044570
SNPdbers797044570
MSV3drs797044570
GWAS Ctlgrs797044570
Max Magnitude0
ClinVar
Risk rs797044570(A;A)
Alt rs797044570(A;A)
Reference Rs797044570(G;G)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992650C>T
CLNSRC
CLNACC RCV000192098.1,