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rs104894937

From SNPedia

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


Make rs104894937(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154413549
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs104894937
ebirs104894937
HLIrs104894937
Exacrs104894937
Varsomers104894937
Maprs104894937
PheGenIrs104894937
hapmaprs104894937
1000 genomesrs104894937
hgdprs104894937
ensemblrs104894937
gopubmedrs104894937
geneviewrs104894937
scholarrs104894937
googlers104894937
pharmgkbrs104894937
gwascentralrs104894937
openSNPrs104894937
23andMers104894937
23andMe allrs104894937
SNP Nexus

SNPshotrs104894937
SNPdbers104894937
MSV3drs104894937
GWAS Ctlgrs104894937
Max Magnitude3

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

OMIM300394
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894937(C;C)
Alt rs104894937(C;C)
Reference rs104894937(T;T)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ DNASE1L1
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153641886T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011857.5,