rs754022333
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs754022333(C;T) |
Make rs754022333(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 36480767 |
Gene | TXN2 |
is a | snp |
is | mentioned by |
dbSNP | rs754022333 |
dbSNP (classic) | rs754022333 |
ClinGen | rs754022333 |
ebi | rs754022333 |
HLI | rs754022333 |
Exac | rs754022333 |
Gnomad | rs754022333 |
Varsome | rs754022333 |
LitVar | rs754022333 |
Map | rs754022333 |
PheGenI | rs754022333 |
Biobank | rs754022333 |
1000 genomes | rs754022333 |
hgdp | rs754022333 |
ensembl | rs754022333 |
geneview | rs754022333 |
scholar | rs754022333 |
rs754022333 | |
pharmgkb | rs754022333 |
gwascentral | rs754022333 |
openSNP | rs754022333 |
23andMe | rs754022333 |
SNPshot | rs754022333 |
SNPdbe | rs754022333 |
MSV3d | rs754022333 |
GWAS Ctlg | rs754022333 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754022333(T;T) |
Alt | rs754022333(T;T) |
Reference | Rs754022333(C;C) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 29 |
Variation | info |
Gene | TXN2 |
CLNDBN | Combined oxidative phosphorylation deficiency 29 |
Reversed | 0 |
HGVS | NC_000022.10:g.36876814C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207474.2, |