rs121434452
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434452(A;A) |
Make rs121434452(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 28844008 |
Gene | MIR4721, TUFM |
is a | snp |
is | mentioned by |
dbSNP | rs121434452 |
dbSNP (classic) | rs121434452 |
ClinGen | rs121434452 |
ebi | rs121434452 |
HLI | rs121434452 |
Exac | rs121434452 |
Gnomad | rs121434452 |
Varsome | rs121434452 |
LitVar | rs121434452 |
Map | rs121434452 |
PheGenI | rs121434452 |
Biobank | rs121434452 |
1000 genomes | rs121434452 |
hgdp | rs121434452 |
ensembl | rs121434452 |
geneview | rs121434452 |
scholar | rs121434452 |
rs121434452 | |
pharmgkb | rs121434452 |
gwascentral | rs121434452 |
openSNP | rs121434452 |
23andMe | rs121434452 |
SNPshot | rs121434452 |
SNPdbe | rs121434452 |
MSV3d | rs121434452 |
GWAS Ctlg | rs121434452 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434452(A;A) |
Alt | rs121434452(A;A) |
Reference | Rs121434452(G;G) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 4 |
Variation | info |
Gene | TUFM NPIPB8 MIR4721 |
CLNDBN | Combined oxidative phosphorylation deficiency 4 |
Reversed | 1 |
HGVS | NC_000016.9:g.28855329C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007698.3, |