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rs121909720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909720(A;A)
Make rs121909720(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position44915253
GeneGFAP
is asnp
is mentioned by
dbSNPrs121909720
ebirs121909720
HLIrs121909720
Exacrs121909720
Varsomers121909720
Maprs121909720
PheGenIrs121909720
hapmaprs121909720
1000 genomesrs121909720
hgdprs121909720
ensemblrs121909720
gopubmedrs121909720
geneviewrs121909720
scholarrs121909720
googlers121909720
pharmgkbrs121909720
gwascentralrs121909720
openSNPrs121909720
23andMers121909720
23andMe allrs121909720
SNP Nexus

SNPshotrs121909720
SNPdbers121909720
MSV3drs121909720
GWAS Ctlgrs121909720
Max Magnitude0
OMIM137780
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909720(A;A)
Alt rs121909720(A;A)
Reference rs121909720(C;C)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992621G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017562.29,