rs587777418
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777418(C;T) |
Make rs587777418(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 65006127 |
Gene | MTFMT |
is a | snp |
is | mentioned by |
dbSNP | rs587777418 |
dbSNP (classic) | rs587777418 |
ClinGen | rs587777418 |
ebi | rs587777418 |
HLI | rs587777418 |
Exac | rs587777418 |
Gnomad | rs587777418 |
Varsome | rs587777418 |
LitVar | rs587777418 |
Map | rs587777418 |
PheGenI | rs587777418 |
Biobank | rs587777418 |
1000 genomes | rs587777418 |
hgdp | rs587777418 |
ensembl | rs587777418 |
geneview | rs587777418 |
scholar | rs587777418 |
rs587777418 | |
pharmgkb | rs587777418 |
gwascentral | rs587777418 |
openSNP | rs587777418 |
23andMe | rs587777418 |
SNPshot | rs587777418 |
SNPdbe | rs587777418 |
MSV3d | rs587777418 |
GWAS Ctlg | rs587777418 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777418(C;C) rs587777418(T;T) |
Alt | Rs587777418(C;C) rs587777418(T;T) |
Reference | Rs587777418(G;G) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 15 |
Variation | info |
Gene | MTFMT |
CLNDBN | Combined oxidative phosphorylation deficiency 15 |
Reversed | 1 |
HGVS | NC_000015.9:g.65298465C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119836.3, |