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rs797044573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044573(A;G)
Make rs797044573(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915231
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044573
dbSNP (classic)rs797044573
ClinGenrs797044573
ebirs797044573
HLIrs797044573
Exacrs797044573
Gnomadrs797044573
Varsomers797044573
LitVarrs797044573
Maprs797044573
PheGenIrs797044573
Biobankrs797044573
1000 genomesrs797044573
hgdprs797044573
ensemblrs797044573
geneviewrs797044573
scholarrs797044573
googlers797044573
pharmgkbrs797044573
gwascentralrs797044573
openSNPrs797044573
23andMers797044573
SNPshotrs797044573
SNPdbers797044573
MSV3drs797044573
GWAS Ctlgrs797044573
Max Magnitude0
ClinVar
Risk rs797044573(G;G)
Alt rs797044573(G;G)
Reference Rs797044573(A;A)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992599T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000192115.1,