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rs57120761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs57120761(C;T)
Make rs57120761(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44915261
GeneGFAP
is asnp
is mentioned by
dbSNPrs57120761
ebirs57120761
HLIrs57120761
Exacrs57120761
Varsomers57120761
Maprs57120761
PheGenIrs57120761
hapmaprs57120761
1000 genomesrs57120761
hgdprs57120761
ensemblrs57120761
gopubmedrs57120761
geneviewrs57120761
scholarrs57120761
googlers57120761
pharmgkbrs57120761
gwascentralrs57120761
openSNPrs57120761
23andMers57120761
23andMe allrs57120761
SNP Nexus

SNPshotrs57120761
SNPdbers57120761
MSV3drs57120761
GWAS Ctlgrs57120761
Max Magnitude0
OMIM137780
Desc
Variant0008
Relatedalso


ClinVar
Risk rs57120761(G,T;G,T)
Alt rs57120761(G,T;G,T)
Reference rs57120761(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.42992629G>A; NC_000017.10:g.42992629G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017557.25, RCV000056863.1, RCV000056862.1, RCV000192106.1,