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rs58645997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58645997(C;C)
Make rs58645997(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911273
GeneGFAP
is asnp
is mentioned by
dbSNPrs58645997
dbSNP (classic)rs58645997
ClinGenrs58645997
ebirs58645997
HLIrs58645997
Exacrs58645997
Gnomadrs58645997
Varsomers58645997
LitVarrs58645997
Maprs58645997
PheGenIrs58645997
Biobankrs58645997
1000 genomesrs58645997
hgdprs58645997
ensemblrs58645997
geneviewrs58645997
scholarrs58645997
googlers58645997
pharmgkbrs58645997
gwascentralrs58645997
openSNPrs58645997
23andMers58645997
SNPshotrs58645997
SNPdbers58645997
MSV3drs58645997
GWAS Ctlgrs58645997
Max Magnitude0
ClinVar
Risk rs58645997(A;A) rs58645997(C;C)
Alt rs58645997(A;A) rs58645997(C;C)
Reference Rs58645997(G;G)
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.42988641C>G; NC_000017.10:g.42988641C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056826.1, RCV000192165.1, RCV000192164.1,