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rs397515740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515740(C;C)
Make rs397515740(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154413504
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs397515740
ebirs397515740
HLIrs397515740
Exacrs397515740
Varsomers397515740
Maprs397515740
PheGenIrs397515740
hapmaprs397515740
1000 genomesrs397515740
hgdprs397515740
ensemblrs397515740
gopubmedrs397515740
geneviewrs397515740
scholarrs397515740
googlers397515740
pharmgkbrs397515740
gwascentralrs397515740
openSNPrs397515740
23andMers397515740
23andMe allrs397515740
SNP Nexus

SNPshotrs397515740
SNPdbers397515740
MSV3drs397515740
GWAS Ctlgrs397515740
Max Magnitude0
ClinVar
Risk rs397515740(C;C)
Alt rs397515740(C;C)
Reference rs397515740(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.153641841T>C
CLNSRC ClinVar
CLNACC RCV000035089.2,