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rs121909718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909718(C;C)
Make rs121909718(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44911277
GeneGFAP
is asnp
is mentioned by
dbSNPrs121909718
dbSNP (classic)rs121909718
ClinGenrs121909718
ebirs121909718
HLIrs121909718
Exacrs121909718
Gnomadrs121909718
Varsomers121909718
LitVarrs121909718
Maprs121909718
PheGenIrs121909718
Biobankrs121909718
1000 genomesrs121909718
hgdprs121909718
ensemblrs121909718
geneviewrs121909718
scholarrs121909718
googlers121909718
pharmgkbrs121909718
gwascentralrs121909718
openSNPrs121909718
23andMers121909718
SNPshotrs121909718
SNPdbers121909718
MSV3drs121909718
GWAS Ctlgrs121909718
Merged fromRs28932768
Max Magnitude0
OMIM137780
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909718(C;C)
Alt rs121909718(C;C)
Reference Rs121909718(G;G)
Significance Pathogenic
Disease Alexander's disease not provided
Variation info
Gene GFAP
CLNDBN Alexander's disease not provided
Reversed 1
HGVS NC_000017.10:g.42988645C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017559.33, RCV000056825.1,