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rs397515750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515750(C;T)
Make rs397515750(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154420948
GeneTAZ
is asnp
is mentioned by
dbSNPrs397515750
ebirs397515750
HLIrs397515750
Exacrs397515750
Varsomers397515750
Maprs397515750
PheGenIrs397515750
hapmaprs397515750
1000 genomesrs397515750
hgdprs397515750
ensemblrs397515750
gopubmedrs397515750
geneviewrs397515750
scholarrs397515750
googlers397515750
pharmgkbrs397515750
gwascentralrs397515750
openSNPrs397515750
23andMers397515750
23andMe allrs397515750
SNP Nexus

SNPshotrs397515750
SNPdbers397515750
MSV3drs397515750
GWAS Ctlgrs397515750
Max Magnitude0
ClinVar
Risk rs397515750(T;T)
Alt rs397515750(T;T)
Reference rs397515750(C;C)
Significance Probable-Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153649287C>T
CLNSRC ClinVar
CLNACC RCV000035102.2,