rs200286768
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200286768(A;A) |
Make rs200286768(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 65003238 |
Gene | MTFMT |
is a | snp |
is | mentioned by |
dbSNP | rs200286768 |
dbSNP (classic) | rs200286768 |
ClinGen | rs200286768 |
ebi | rs200286768 |
HLI | rs200286768 |
Exac | rs200286768 |
Gnomad | rs200286768 |
Varsome | rs200286768 |
LitVar | rs200286768 |
Map | rs200286768 |
PheGenI | rs200286768 |
Biobank | rs200286768 |
1000 genomes | rs200286768 |
hgdp | rs200286768 |
ensembl | rs200286768 |
geneview | rs200286768 |
scholar | rs200286768 |
rs200286768 | |
pharmgkb | rs200286768 |
gwascentral | rs200286768 |
openSNP | rs200286768 |
23andMe | rs200286768 |
SNPshot | rs200286768 |
SNPdbe | rs200286768 |
MSV3d | rs200286768 |
GWAS Ctlg | rs200286768 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200286768(A;A) rs200286768(T;T) |
Alt | rs200286768(A;A) rs200286768(T;T) |
Reference | Rs200286768(G;G) |
Significance | Pathogenic |
Disease | Leigh syndrome due to mitochondrial complex I deficiency Combined oxidative phosphorylation deficiency 15 not provided |
Variation | info |
Gene | MTFMT |
CLNDBN | Leigh syndrome due to mitochondrial complex I deficiency Combined oxidative phosphorylation deficiency 15 not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.65295576G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033051.6, RCV000106390.5, RCV000414310.1, |