rs104894941
From SNPedia
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 |
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
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, |