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rs397515739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515739(C;C)
Make rs397515739(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154413525
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs397515739
dbSNP (classic)rs397515739
ClinGenrs397515739
ebirs397515739
HLIrs397515739
Exacrs397515739
Gnomadrs397515739
Varsomers397515739
LitVarrs397515739
Maprs397515739
PheGenIrs397515739
Biobankrs397515739
1000 genomesrs397515739
hgdprs397515739
ensemblrs397515739
geneviewrs397515739
scholarrs397515739
googlers397515739
pharmgkbrs397515739
gwascentralrs397515739
openSNPrs397515739
23andMers397515739
SNPshotrs397515739
SNPdbers397515739
MSV3drs397515739
GWAS Ctlgrs397515739
Max Magnitude0
ClinVar
Risk rs397515739(C;C)
Alt rs397515739(C;C)
Reference Rs397515739(T;T)
Significance Probable-Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ DNASE1L1
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153641862T>C
CLNSRC ClinVar
CLNACC RCV000035088.2,