rs367932369
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs367932369(C;T) |
Make rs367932369(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 119157870 |
Gene | SFXN4 |
is a | snp |
is | mentioned by |
dbSNP | rs367932369 |
dbSNP (classic) | rs367932369 |
ClinGen | rs367932369 |
ebi | rs367932369 |
HLI | rs367932369 |
Exac | rs367932369 |
Gnomad | rs367932369 |
Varsome | rs367932369 |
LitVar | rs367932369 |
Map | rs367932369 |
PheGenI | rs367932369 |
Biobank | rs367932369 |
1000 genomes | rs367932369 |
hgdp | rs367932369 |
ensembl | rs367932369 |
geneview | rs367932369 |
scholar | rs367932369 |
rs367932369 | |
pharmgkb | rs367932369 |
gwascentral | rs367932369 |
openSNP | rs367932369 |
23andMe | rs367932369 |
SNPshot | rs367932369 |
SNPdbe | rs367932369 |
MSV3d | rs367932369 |
GWAS Ctlg | rs367932369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367932369(T;T) |
Alt | rs367932369(T;T) |
Reference | Rs367932369(C;C) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 18 |
Variation | info |
Gene | SFXN4 |
CLNDBN | Combined oxidative phosphorylation deficiency 18 |
Reversed | 0 |
HGVS | NC_000010.10:g.120917382C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000077776.3, |