rs104894941

Orientation

plus

Stabilized

plus

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

Make rs104894941(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154412129

Gene	DNASE1L1, TAZ

is a	snp
is	mentioned by
dbSNP	rs104894941
dbSNP (classic)	rs104894941
ClinGen	rs104894941
ebi	rs104894941
HLI	rs104894941
Exac	rs104894941
Gnomad	rs104894941
Varsome	rs104894941
LitVar	rs104894941
Map	rs104894941
PheGenI	rs104894941
Biobank	rs104894941
1000 genomes	rs104894941
hgdp	rs104894941
ensembl	rs104894941
geneview	rs104894941
scholar	rs104894941
google	rs104894941
pharmgkb	rs104894941
gwascentral	rs104894941
openSNP	rs104894941
23andMe	rs104894941
SNPshot	rs104894941
SNPdbe	rs104894941
MSV3d	rs104894941
GWAS Ctlg	rs104894941

Max Magnitude

3

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

OMIM	300394
Desc
Variant	0002
Related	also

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,