rs372174278
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372174278(C;C) |
Make rs372174278(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 17339589 |
Gene | GTPBP3 |
is a | snp |
is | mentioned by |
dbSNP | rs372174278 |
dbSNP (classic) | rs372174278 |
ClinGen | rs372174278 |
ebi | rs372174278 |
HLI | rs372174278 |
Exac | rs372174278 |
Gnomad | rs372174278 |
Varsome | rs372174278 |
LitVar | rs372174278 |
Map | rs372174278 |
PheGenI | rs372174278 |
Biobank | rs372174278 |
1000 genomes | rs372174278 |
hgdp | rs372174278 |
ensembl | rs372174278 |
geneview | rs372174278 |
scholar | rs372174278 |
rs372174278 | |
pharmgkb | rs372174278 |
gwascentral | rs372174278 |
openSNP | rs372174278 |
23andMe | rs372174278 |
SNPshot | rs372174278 |
SNPdbe | rs372174278 |
MSV3d | rs372174278 |
GWAS Ctlg | rs372174278 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372174278(C;C) rs372174278(T;T) |
Alt | rs372174278(C;C) rs372174278(T;T) |
Reference | Rs372174278(G;G) |
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.17450398G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157593.3, |