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rs58064122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58064122(C;T)
Make rs58064122(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44913334
GeneGFAP
is asnp
is mentioned by
dbSNPrs58064122
ebirs58064122
HLIrs58064122
Exacrs58064122
Varsomers58064122
Maprs58064122
PheGenIrs58064122
hapmaprs58064122
1000 genomesrs58064122
hgdprs58064122
ensemblrs58064122
gopubmedrs58064122
geneviewrs58064122
scholarrs58064122
googlers58064122
pharmgkbrs58064122
gwascentralrs58064122
openSNPrs58064122
23andMers58064122
23andMe allrs58064122
SNP Nexus

SNPshotrs58064122
SNPdbers58064122
MSV3drs58064122
GWAS Ctlgrs58064122
Max Magnitude0
OMIM137780
Desc
Variant0001
Relatedalso


ClinVar
Risk rs58064122(T;T)
Alt rs58064122(T;T)
Reference rs58064122(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.42990702G>A; NC_000017.10:g.42990702G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017550.23, RCV000056898.1, RCV000192135.1,