rs869320746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869320746(-;C) |
Make rs869320746(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 17341515 |
Gene | GTPBP3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320746 |
dbSNP (classic) | rs869320746 |
ClinGen | rs869320746 |
ebi | rs869320746 |
HLI | rs869320746 |
Exac | rs869320746 |
Gnomad | rs869320746 |
Varsome | rs869320746 |
LitVar | rs869320746 |
Map | rs869320746 |
PheGenI | rs869320746 |
Biobank | rs869320746 |
1000 genomes | rs869320746 |
hgdp | rs869320746 |
ensembl | rs869320746 |
geneview | rs869320746 |
scholar | rs869320746 |
rs869320746 | |
pharmgkb | rs869320746 |
gwascentral | rs869320746 |
openSNP | rs869320746 |
23andMe | rs869320746 |
SNPshot | rs869320746 |
SNPdbe | rs869320746 |
MSV3d | rs869320746 |
GWAS Ctlg | rs869320746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320746(C;C) |
Alt | rs869320746(C;C) |
Reference | Rs869320746(-;-) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 23 |
Variation | info |
Gene | GTPBP3 |
CLNDBN | Combined oxidative phosphorylation deficiency 23 |
Reversed | 0 |
HGVS | NC_000019.9:g.17452324dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157590.3, |