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rs104894942

From SNPedia

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


Make rs104894942(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154413248
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs104894942
ebirs104894942
HLIrs104894942
Exacrs104894942
Varsomers104894942
Maprs104894942
PheGenIrs104894942
hapmaprs104894942
1000 genomesrs104894942
hgdprs104894942
ensemblrs104894942
gopubmedrs104894942
geneviewrs104894942
scholarrs104894942
googlers104894942
pharmgkbrs104894942
gwascentralrs104894942
openSNPrs104894942
23andMers104894942
23andMe allrs104894942
SNP Nexus

SNPshotrs104894942
SNPdbers104894942
MSV3drs104894942
GWAS Ctlgrs104894942
Max Magnitude3

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

OMIM300394
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894942(A,T;A,T)
Alt rs104894942(A,T;A,T)
Reference rs104894942(C;C)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 2 not provided
Variation info
Gene TAZ DNASE1L1
CLNDBN 3-Methylglutaconic aciduria type 2 not provided
Reversed 0
HGVS NC_000023.10:g.153641585C>A; NC_000023.10:g.153641585C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011859.5, RCV000183907.1,