chr16:53782363:C>A Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,816,275-53,816,275 View the variant detail on this assembly version.
hg38 chr16:53,782,363-53,782,363

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-27777C>A
Ensemble ENST00000471389.6:c.46-27777C>A
ENST00000636218.1:c.46-27777C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.196
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 610966 OMIM
HGNC 24678 HGNC
Ensembl ENSG00000140718 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55542261 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.341 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
0.016 Diabetes Mellitus, Non-Insulin-Dependent Of the 37 T2D risk alleles, two showed nominally significant positive associatio... BeFree 21445555 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent Of the 37 T2D risk alleles, two showed nominally significant positive associatio... BeFree 21445555 Detail
0.327 Diabetes Mellitus, Non-Insulin-Dependent While FTO rs8050136 and rs17817449, ADAMTS9 rs4607103, and WFS1 rs10010131 were ... BeFree 24145053 Detail
0.153 obesity KCTD15 SNP rs29941 (P = 1 x 10(-3)) was significantly associated with fasting gl... BeFree 20061430 Detail
0.400 obesity KCTD15 SNP rs29941 (P = 1 x 10(-3)) was significantly associated with fasting gl... BeFree 20061430 Detail
0.030 obesity In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabete... BeFree 19056611 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabete... BeFree 19056611 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabete... BeFree 19056611 Detail
0.045 diabetes mellitus After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs80501... BeFree 22591707 Detail
0.008 Diabetes After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs80501... BeFree 22591707 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent The TCF7L2 rs7903146 and FTO rs8050136 polymorphisms, and particularly a weighte... BeFree 22591707 Detail
<0.001 gestational diabetes The TCF7L2 rs7903146 and FTO rs8050136 polymorphisms, and particularly a weighte... BeFree 22591707 Detail
0.025 diabetes mellitus After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs80501... BeFree 22591707 Detail
0.018 Diabetes After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs80501... BeFree 22591707 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... BeFree 19833889 Detail
<0.001 obesity Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... BeFree 19833889 Detail
<0.001 Latent autoimmune diabetes mellitus in adult Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... BeFree 19833889 Detail
0.005 obesity Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... BeFree 19833889 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Variant rs8050136 lies within intron 1 of the FTO gene on chromosome 16 and mark... BeFree 20009087 Detail
0.400 obesity Association of the FTO obesity risk variant rs8050136 with percentage of energy ... BeFree 23820787 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent To test this hypothesis, we genotyped 1,466 German subjects, with increased risk... BeFree 18535549 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent SNP rs8050136 in FTO was nominally associated with type 2 diabetes [OR = 1.22 (9... BeFree 17928989 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent From the recently identified T2D risk variants only the risk variant of the FTO ... BeFree 20049090 Detail
0.400 obesity Our findings indicate that the two variants (rs9939609 and rs8050136) in the FTO... BeFree 20057365 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Our findings indicate that the two variants (rs9939609 and rs8050136) in the FTO... BeFree 20057365 Detail
0.400 obesity Genetic variation near IRS1 associates with reduced adiposity and an impaired me... GWASCAT 21706003 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent We identify T2D-associated variants in an intergenic region of chromosome 11p12,... GWASCAT 17463248 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent FTO rs8050136 being associated with type 2 diabetes through its effect on obesit... BeFree 17786212 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Replication of genome-wide association signals in UK samples reveals risk loci f... GWASCAT 17463249 Detail
0.400 obesity FTO rs8050136 being associated with type 2 diabetes through its effect on obesit... BeFree 17786212 Detail
0.008 obesity FTO rs8050136 being associated with type 2 diabetes through its effect on obesit... BeFree 17786212 Detail
0.400 obesity [In the combined analyses, a significant association was found between rs8050136... GAD 21037115 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent FTO rs8050136 being associated with type 2 diabetes through its effect on obesit... BeFree 17786212 Detail
0.013 Overweight Here we examined association of FTO variants (rs9939609 and rs8050136) with obes... BeFree 23091647 Detail
0.400 obesity Variant rs8050136 lies within intron 1 of the FTO gene on chromosome 16 and mark... BeFree 20009087 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.176 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.009 gestational diabetes 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HH... BeFree 22591707 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.791 obesity We have previously demonstrated that three obesity-susceptible single nucleotide... BeFree 21147891 Detail
<0.001 vitelliform macular dystrophy The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs54... BeFree 23691120 Detail
<0.001 vitelliform macular dystrophy The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs54... BeFree 23691120 Detail
Annotation

Annotations

DescrptionSourceLinks
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Of the 37 T2D risk alleles, two showed nominally significant positive associations with pancreatic c... DisGeNET Detail
Of the 37 T2D risk alleles, two showed nominally significant positive associations with pancreatic c... DisGeNET Detail
While FTO rs8050136 and rs17817449, ADAMTS9 rs4607103, and WFS1 rs10010131 were initially associated... DisGeNET Detail
KCTD15 SNP rs29941 (P = 1 x 10(-3)) was significantly associated with fasting glucose in the control... DisGeNET Detail
KCTD15 SNP rs29941 (P = 1 x 10(-3)) was significantly associated with fasting glucose in the control... DisGeNET Detail
In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabetes effect (rs8050136:... DisGeNET Detail
In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabetes effect (rs8050136:... DisGeNET Detail
In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabetes effect (rs8050136:... DisGeNET Detail
After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs8050136 variants signific... DisGeNET Detail
After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs8050136 variants signific... DisGeNET Detail
The TCF7L2 rs7903146 and FTO rs8050136 polymorphisms, and particularly a weighted risk score of T2D ... DisGeNET Detail
The TCF7L2 rs7903146 and FTO rs8050136 polymorphisms, and particularly a weighted risk score of T2D ... DisGeNET Detail
After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs8050136 variants signific... DisGeNET Detail
After adjustment for age and ethnicity, the TCF7L2 rs7903146 and the FTO rs8050136 variants signific... DisGeNET Detail
Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... DisGeNET Detail
Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... DisGeNET Detail
Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... DisGeNET Detail
Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... DisGeNET Detail
Variant rs8050136 lies within intron 1 of the FTO gene on chromosome 16 and marks a locus strongly a... DisGeNET Detail
Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in m... DisGeNET Detail
To test this hypothesis, we genotyped 1,466 German subjects, with increased risk for type 2 diabetes... DisGeNET Detail
SNP rs8050136 in FTO was nominally associated with type 2 diabetes [OR = 1.22 (95% CI 1.03-1.46), p ... DisGeNET Detail
From the recently identified T2D risk variants only the risk variant of the FTO gene (rs8050136) sho... DisGeNET Detail
Our findings indicate that the two variants (rs9939609 and rs8050136) in the FTO gene contribute to ... DisGeNET Detail
Our findings indicate that the two variants (rs9939609 and rs8050136) in the FTO gene contribute to ... DisGeNET Detail
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. DisGeNET Detail
We identify T2D-associated variants in an intergenic region of chromosome 11p12, contribute to the i... DisGeNET Detail
FTO rs8050136 being associated with type 2 diabetes through its effect on obesity); differential lin... DisGeNET Detail
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. DisGeNET Detail
FTO rs8050136 being associated with type 2 diabetes through its effect on obesity); differential lin... DisGeNET Detail
FTO rs8050136 being associated with type 2 diabetes through its effect on obesity); differential lin... DisGeNET Detail
[In the combined analyses, a significant association was found between rs8050136, located in the fir... DisGeNET Detail
FTO rs8050136 being associated with type 2 diabetes through its effect on obesity); differential lin... DisGeNET Detail
Here we examined association of FTO variants (rs9939609 and rs8050136) with obesity and related anth... DisGeNET Detail
Variant rs8050136 lies within intron 1 of the FTO gene on chromosome 16 and marks a locus strongly a... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
We have previously demonstrated that three obesity-susceptible single nucleotide polymorphisms (SNPs... DisGeNET Detail
The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the... DisGeNET Detail
The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs8050136 dbSNP
Genome
hg38
Position
chr16:53,782,363-53,782,363
Variant Type
snv
Reference Allele
C
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs8050136
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1959
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3284
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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