rs104894937

Orientation

plus

Stabilized

plus

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

Make rs104894937(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154413549

Gene	DNASE1L1, TAZ

is a	snp
is	mentioned by
dbSNP	rs104894937
dbSNP (classic)	rs104894937
ClinGen	rs104894937
ebi	rs104894937
HLI	rs104894937
Exac	rs104894937
Gnomad	rs104894937
Varsome	rs104894937
LitVar	rs104894937
Map	rs104894937
PheGenI	rs104894937
Biobank	rs104894937
1000 genomes	rs104894937
hgdp	rs104894937
ensembl	rs104894937
geneview	rs104894937
scholar	rs104894937
google	rs104894937
pharmgkb	rs104894937
gwascentral	rs104894937
openSNP	rs104894937
23andMe	rs104894937
SNPshot	rs104894937
SNPdbe	rs104894937
MSV3d	rs104894937
GWAS Ctlg	rs104894937

Max Magnitude

3

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

OMIM	300394
Desc
Variant	0009
Related	also

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 UniProtKB (protein)
CLNACC	RCV000011857.5,