FTO Chromosome 16
FTO alpha-ketoglutarate dependent dioxygenase
Upload your DNA to see your personal genotypes for variants in FTO.
What This Gene Does
This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
Alkylation repair homologs
Locus Type
gene with protein product
Location
16q12.2
Ensembl
ENSG00000140718
Associated Conditions (6)
Lethal polymalformative syndrome
Boissel type
FTO-related disorder
Body mass index quantitative trait locus 14
OBESITY (BMIQ14)
SUSCEPTIBILITY TO
Key Variants
RS144743617
Conflicting classifications of pathogenicity
Lethal polymalformative syndrome, Boissel type, FTO-related disorder
Health Risk
RS145884431
Conflicting classifications of pathogenicity
Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome
Health Risk
RS375930208
Conflicting classifications of pathogenicity
Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome
Health Risk
RS772642133
Conflicting classifications of pathogenicity
Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome
Health Risk
RS886052101
Conflicting classifications of pathogenicity
Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome
Health Risk
RS121918214
Likely pathogenic
Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome
Health Risk
RS2078991144
Likely pathogenic
Body mass index quantitative trait locus 14, Body mass index quantitative trait locus 14
Health Risk
RS781028867
Pathogenic
Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome
Health Risk
RS1421085
risk factor
OBESITY (BMIQ14), SUSCEPTIBILITY TO, OBESITY (BMIQ14)
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144743617 | Health Risk | Conflicting classifications of pathogenicity | Lethal polymalformative syndrome, Boissel type, FTO-related disorder |
| RS145884431 | Health Risk | Conflicting classifications of pathogenicity | Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome |
| RS375930208 | Health Risk | Conflicting classifications of pathogenicity | Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome |
| RS772642133 | Health Risk | Conflicting classifications of pathogenicity | Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome |
| RS886052101 | Health Risk | Conflicting classifications of pathogenicity | Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome |
| RS121918214 | Health Risk | Likely pathogenic | Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome |
| RS2078991144 | Health Risk | Likely pathogenic | Body mass index quantitative trait locus 14, Body mass index quantitative trait locus 14 |
| RS781028867 | Health Risk | Pathogenic | Lethal polymalformative syndrome, Boissel type, Lethal polymalformative syndrome |
| RS1421085 | Health Risk | risk factor | OBESITY (BMIQ14), SUSCEPTIBILITY TO, OBESITY (BMIQ14) |