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rs387907218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of a Barth syndrome allele
(G;G) 0 common in clinvar


Make rs387907218(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154420676
GeneTAZ
is asnp
is mentioned by
dbSNPrs387907218
ebirs387907218
HLIrs387907218
Exacrs387907218
Varsomers387907218
Maprs387907218
PheGenIrs387907218
hapmaprs387907218
1000 genomesrs387907218
hgdprs387907218
ensemblrs387907218
gopubmedrs387907218
geneviewrs387907218
scholarrs387907218
googlers387907218
pharmgkbrs387907218
gwascentralrs387907218
openSNPrs387907218
23andMers387907218
23andMe allrs387907218
SNP Nexus

SNPshotrs387907218
SNPdbers387907218
MSV3drs387907218
GWAS Ctlgrs387907218
Max Magnitude3

Barth syndrome, also known as 3-Methylglutaconic aciduria type 2

ClinVar
Risk rs387907218(A,C;A,C)
Alt rs387907218(A,C;A,C)
Reference rs387907218(G;G)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153649015G>A; NC_000023.10:g.153649015G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000029171.12, RCV000035099.2,