rs104894942

Orientation

plus

Stabilized

plus

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

Make rs104894942(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154413248

Gene	DNASE1L1, TAZ

is a	snp
is	mentioned by
dbSNP	rs104894942
dbSNP (classic)	rs104894942
ClinGen	rs104894942
ebi	rs104894942
HLI	rs104894942
Exac	rs104894942
Gnomad	rs104894942
Varsome	rs104894942
LitVar	rs104894942
Map	rs104894942
PheGenI	rs104894942
Biobank	rs104894942
1000 genomes	rs104894942
hgdp	rs104894942
ensembl	rs104894942
geneview	rs104894942
scholar	rs104894942
google	rs104894942
pharmgkb	rs104894942
gwascentral	rs104894942
openSNP	rs104894942
23andMe	rs104894942
SNPshot	rs104894942
SNPdbe	rs104894942
MSV3d	rs104894942
GWAS Ctlg	rs104894942

Max Magnitude

3

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

OMIM	300394
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894942(A;A) rs104894942(T;T)
Alt	rs104894942(A;A) rs104894942(T;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 UniProtKB (protein)
CLNACC	RCV000011859.5, RCV000183907.1,