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rs56679084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs56679084(C;C)
Make rs56679084(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913382
GeneGFAP
is asnp
is mentioned by
dbSNPrs56679084
dbSNP (classic)rs56679084
ClinGenrs56679084
ebirs56679084
HLIrs56679084
Exacrs56679084
Gnomadrs56679084
Varsomers56679084
LitVarrs56679084
Maprs56679084
PheGenIrs56679084
Biobankrs56679084
1000 genomesrs56679084
hgdprs56679084
ensemblrs56679084
geneviewrs56679084
scholarrs56679084
googlers56679084
pharmgkbrs56679084
gwascentralrs56679084
openSNPrs56679084
23andMers56679084
SNPshotrs56679084
SNPdbers56679084
MSV3drs56679084
GWAS Ctlgrs56679084
Max Magnitude0
ClinVar
Risk rs56679084(C;C)
Alt rs56679084(C;C)
Reference Rs56679084(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.42990750C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056895.1, RCV000192110.1, RCV000192131.1,