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rs104894941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a Barth syndrome allele
Make rs104894941(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154412129
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs104894941
ebirs104894941
HLIrs104894941
Exacrs104894941
Varsomers104894941
Maprs104894941
PheGenIrs104894941
hapmaprs104894941
1000 genomesrs104894941
hgdprs104894941
ensemblrs104894941
gopubmedrs104894941
geneviewrs104894941
scholarrs104894941
googlers104894941
pharmgkbrs104894941
gwascentralrs104894941
openSNPrs104894941
23andMers104894941
23andMe allrs104894941
SNP Nexus

SNPshotrs104894941
SNPdbers104894941
MSV3drs104894941
GWAS Ctlgrs104894941
Max Magnitude3

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

OMIM300394
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894941(G;G)
Alt rs104894941(G;G)
Reference rs104894941(C;C)
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.153640466C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011850.15,