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rs587776741

From SNPedia

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


Make rs587776741(C;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154420211
GeneTAZ
is asnp
is mentioned by
dbSNPrs587776741
ebirs587776741
HLIrs587776741
Exacrs587776741
Varsomers587776741
Maprs587776741
PheGenIrs587776741
hapmaprs587776741
1000 genomesrs587776741
hgdprs587776741
ensemblrs587776741
gopubmedrs587776741
geneviewrs587776741
scholarrs587776741
googlers587776741
pharmgkbrs587776741
gwascentralrs587776741
openSNPrs587776741
23andMers587776741
23andMe allrs587776741
SNP Nexus

SNPshotrs587776741
SNPdbers587776741
MSV3drs587776741
GWAS Ctlgrs587776741
Max Magnitude3

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

ClinVar
Risk rs587776741(C;C)
Alt rs587776741(C;C)
Reference rs587776741(G;G)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.11:g.154420211G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011861.1,