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rs59793293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs59793293(C;T)
Make rs59793293(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44915252
GeneGFAP
is asnp
is mentioned by
dbSNPrs59793293
ebirs59793293
HLIrs59793293
Exacrs59793293
Varsomers59793293
Maprs59793293
PheGenIrs59793293
hapmaprs59793293
1000 genomesrs59793293
hgdprs59793293
ensemblrs59793293
gopubmedrs59793293
geneviewrs59793293
scholarrs59793293
googlers59793293
pharmgkbrs59793293
gwascentralrs59793293
openSNPrs59793293
23andMers59793293
23andMe allrs59793293
SNP Nexus

SNPshotrs59793293
SNPdbers59793293
MSV3drs59793293
GWAS Ctlgrs59793293
Max Magnitude0
OMIM137780
Desc
Variant0005
Relatedalso


ClinVar
Risk rs59793293(A,G,T;A,G,T)
Alt rs59793293(A,G,T;A,G,T)
Reference rs59793293(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.42992620G>A; NC_000017.10:g.42992620G>C; NC_000017.10:g.42992620G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017554.23, RCV000056868.1, RCV000056867.1, RCV000192109.1, RCV000056866.1,