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rs121909717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909717(C;T)
Make rs121909717(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44908075
GeneGFAP
is asnp
is mentioned by
dbSNPrs121909717
dbSNP (classic)rs121909717
ClinGenrs121909717
ebirs121909717
HLIrs121909717
Exacrs121909717
Gnomadrs121909717
Varsomers121909717
LitVarrs121909717
Maprs121909717
PheGenIrs121909717
Biobankrs121909717
1000 genomesrs121909717
hgdprs121909717
ensemblrs121909717
geneviewrs121909717
scholarrs121909717
googlers121909717
pharmgkbrs121909717
gwascentralrs121909717
openSNPrs121909717
23andMers121909717
SNPshotrs121909717
SNPdbers121909717
MSV3drs121909717
GWAS Ctlgrs121909717
Max Magnitude0
OMIM137780
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909717(A;A) rs121909717(T;T)
Alt rs121909717(A;A) rs121909717(T;T)
Reference Rs121909717(C;C)
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.42985443G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017552.30, RCV000056848.1,