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rs57590980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57590980(A;G)
Make rs57590980(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915257
GeneGFAP
is asnp
is mentioned by
dbSNPrs57590980
dbSNP (classic)rs57590980
ClinGenrs57590980
ebirs57590980
HLIrs57590980
Exacrs57590980
Gnomadrs57590980
Varsomers57590980
LitVarrs57590980
Maprs57590980
PheGenIrs57590980
Biobankrs57590980
1000 genomesrs57590980
hgdprs57590980
ensemblrs57590980
geneviewrs57590980
scholarrs57590980
googlers57590980
pharmgkbrs57590980
gwascentralrs57590980
openSNPrs57590980
23andMers57590980
SNPshotrs57590980
SNPdbers57590980
MSV3drs57590980
GWAS Ctlgrs57590980
Max Magnitude0
ClinVar
Risk rs57590980(G;G)
Alt rs57590980(G;G)
Reference Rs57590980(A;A)
Significance Pathogenic
Disease not provided Alexander's disease
Variation info
Gene GFAP
CLNDBN not provided Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992625T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056865.1, RCV000192107.1,