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rs397515747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515747(A;A)
Make rs397515747(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154420657
GeneTAZ
is asnp
is mentioned by
dbSNPrs397515747
dbSNP (classic)rs397515747
ClinGenrs397515747
ebirs397515747
HLIrs397515747
Exacrs397515747
Gnomadrs397515747
Varsomers397515747
LitVarrs397515747
Maprs397515747
PheGenIrs397515747
Biobankrs397515747
1000 genomesrs397515747
hgdprs397515747
ensemblrs397515747
geneviewrs397515747
scholarrs397515747
googlers397515747
pharmgkbrs397515747
gwascentralrs397515747
openSNPrs397515747
23andMers397515747
SNPshotrs397515747
SNPdbers397515747
MSV3drs397515747
GWAS Ctlgrs397515747
Max Magnitude0
ClinVar
Risk rs397515747(A;A)
Alt rs397515747(A;A)
Reference Rs397515747(G;G)
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.153648996G>A
CLNSRC ClinVar
CLNACC RCV000035098.2,