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rs727504431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504431(G;T)
Make rs727504431(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154420212
GeneTAZ
is asnp
is mentioned by
dbSNPrs727504431
dbSNP (classic)rs727504431
ClinGenrs727504431
ebirs727504431
HLIrs727504431
Exacrs727504431
Gnomadrs727504431
Varsomers727504431
LitVarrs727504431
Maprs727504431
PheGenIrs727504431
Biobankrs727504431
1000 genomesrs727504431
hgdprs727504431
ensemblrs727504431
geneviewrs727504431
scholarrs727504431
googlers727504431
pharmgkbrs727504431
gwascentralrs727504431
openSNPrs727504431
23andMers727504431
SNPshotrs727504431
SNPdbers727504431
MSV3drs727504431
GWAS Ctlgrs727504431
Max Magnitude0
ClinVar
Risk rs727504431(T;T)
Alt rs727504431(T;T)
Reference Rs727504431(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.153648551G>T
CLNSRC
CLNACC RCV000154666.1,