rs779598020
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779598020(C;C) |
Make rs779598020(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 23837561 |
Gene | MIPEP |
is a | snp |
is | mentioned by |
dbSNP | rs779598020 |
dbSNP (classic) | rs779598020 |
ClinGen | rs779598020 |
ebi | rs779598020 |
HLI | rs779598020 |
Exac | rs779598020 |
Gnomad | rs779598020 |
Varsome | rs779598020 |
LitVar | rs779598020 |
Map | rs779598020 |
PheGenI | rs779598020 |
Biobank | rs779598020 |
1000 genomes | rs779598020 |
hgdp | rs779598020 |
ensembl | rs779598020 |
geneview | rs779598020 |
scholar | rs779598020 |
rs779598020 | |
pharmgkb | rs779598020 |
gwascentral | rs779598020 |
openSNP | rs779598020 |
23andMe | rs779598020 |
SNPshot | rs779598020 |
SNPdbe | rs779598020 |
MSV3d | rs779598020 |
GWAS Ctlg | rs779598020 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779598020(C;C) |
Alt | rs779598020(C;C) |
Reference | Rs779598020(G;G) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 31 |
Variation | info |
Gene | MIPEP |
CLNDBN | Combined oxidative phosphorylation deficiency 31 |
Reversed | 0 |
HGVS | NC_000013.10:g.24411700G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412519.1, |