rs587777419
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777419(A;A) |
Make rs587777419(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 65029541 |
Gene | MTFMT |
is a | snp |
is | mentioned by |
dbSNP | rs587777419 |
dbSNP (classic) | rs587777419 |
ClinGen | rs587777419 |
ebi | rs587777419 |
HLI | rs587777419 |
Exac | rs587777419 |
Gnomad | rs587777419 |
Varsome | rs587777419 |
LitVar | rs587777419 |
Map | rs587777419 |
PheGenI | rs587777419 |
Biobank | rs587777419 |
1000 genomes | rs587777419 |
hgdp | rs587777419 |
ensembl | rs587777419 |
geneview | rs587777419 |
scholar | rs587777419 |
rs587777419 | |
pharmgkb | rs587777419 |
gwascentral | rs587777419 |
openSNP | rs587777419 |
23andMe | rs587777419 |
SNPshot | rs587777419 |
SNPdbe | rs587777419 |
MSV3d | rs587777419 |
GWAS Ctlg | rs587777419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777419(A;A) Rs587777419(G;G) |
Alt | rs587777419(A;A) Rs587777419(G;G) |
Reference | Rs587777419(C;C) |
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.65321879G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119837.4, |