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rs132630277

From SNPedia

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


Make rs132630277(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154420037
GeneTAZ
is asnp
is mentioned by
dbSNPrs132630277
ebirs132630277
HLIrs132630277
Exacrs132630277
Varsomers132630277
Maprs132630277
PheGenIrs132630277
hapmaprs132630277
1000 genomesrs132630277
hgdprs132630277
ensemblrs132630277
gopubmedrs132630277
geneviewrs132630277
scholarrs132630277
googlers132630277
pharmgkbrs132630277
gwascentralrs132630277
openSNPrs132630277
23andMers132630277
23andMe allrs132630277
SNP Nexus

SNPshotrs132630277
SNPdbers132630277
MSV3drs132630277
GWAS Ctlgrs132630277
Max Magnitude3

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

OMIM300394
Desc
Variant0006
Relatedalso
ClinVar
Risk rs132630277(A;A)
Alt rs132630277(A;A)
Reference rs132630277(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.153648376G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011854.13,