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rs397515741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515741(C;C)
Make rs397515741(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154413507
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs397515741
dbSNP (classic)rs397515741
ClinGenrs397515741
ebirs397515741
HLIrs397515741
Exacrs397515741
Gnomadrs397515741
Varsomers397515741
LitVarrs397515741
Maprs397515741
PheGenIrs397515741
Biobankrs397515741
1000 genomesrs397515741
hgdprs397515741
ensemblrs397515741
geneviewrs397515741
scholarrs397515741
googlers397515741
pharmgkbrs397515741
gwascentralrs397515741
openSNPrs397515741
23andMers397515741
SNPshotrs397515741
SNPdbers397515741
MSV3drs397515741
GWAS Ctlgrs397515741
Max Magnitude0
ClinVar
Risk rs397515741(C;C)
Alt rs397515741(C;C)
Reference Rs397515741(T;T)
Significance 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.153641844T>C
CLNSRC ClinVar
CLNACC RCV000035090.2,