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rs58732244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs58732244(A;T)
Make rs58732244(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44915258
GeneGFAP
is asnp
is mentioned by
dbSNPrs58732244
dbSNP (classic)rs58732244
ClinGenrs58732244
ebirs58732244
HLIrs58732244
Exacrs58732244
Gnomadrs58732244
Varsomers58732244
LitVarrs58732244
Maprs58732244
PheGenIrs58732244
Biobankrs58732244
1000 genomesrs58732244
hgdprs58732244
ensemblrs58732244
geneviewrs58732244
scholarrs58732244
googlers58732244
pharmgkbrs58732244
gwascentralrs58732244
openSNPrs58732244
23andMers58732244
SNPshotrs58732244
SNPdbers58732244
MSV3drs58732244
GWAS Ctlgrs58732244
Max Magnitude0
OMIM137780
Desc
Variant0009
Relatedalso


ClinVar
Risk rs58732244(T;T)
Alt rs58732244(T;T)
Reference Rs58732244(A;A)
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.42992626T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017558.26, RCV000056864.1,