rs863224897
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224897(-;-) |
Make rs863224897(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 65003116 |
Gene | MTFMT |
is a | snp |
is | mentioned by |
dbSNP | rs863224897 |
dbSNP (classic) | rs863224897 |
ClinGen | rs863224897 |
ebi | rs863224897 |
HLI | rs863224897 |
Exac | rs863224897 |
Gnomad | rs863224897 |
Varsome | rs863224897 |
LitVar | rs863224897 |
Map | rs863224897 |
PheGenI | rs863224897 |
Biobank | rs863224897 |
1000 genomes | rs863224897 |
hgdp | rs863224897 |
ensembl | rs863224897 |
geneview | rs863224897 |
scholar | rs863224897 |
rs863224897 | |
pharmgkb | rs863224897 |
gwascentral | rs863224897 |
openSNP | rs863224897 |
23andMe | rs863224897 |
SNPshot | rs863224897 |
SNPdbe | rs863224897 |
MSV3d | rs863224897 |
GWAS Ctlg | rs863224897 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224897(-;-) |
Alt | rs863224897(-;-) |
Reference | Rs863224897(T;T) |
Significance | Probable-Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 15 |
Variation | info |
Gene | MTFMT |
CLNDBN | Combined oxidative phosphorylation deficiency 15 |
Reversed | 1 |
HGVS | NC_000015.9:g.65295454delA |
CLNSRC | |
CLNACC | RCV000196317.1, |