chr16:53833605:T>C Detail (hg19) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,833,605-53,833,605
hg38 chr16:53,799,693-53,799,693 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-10447T>C
Ensemble ENST00000637969.1:c.46-10447T>C
ENST00000637001.1:c.46-10447T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.412
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 tgv55542660 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
<0.001 Diabetes A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes d... BeFree 21741858 Detail
0.140 Metabolic syndrome X The C allele of the rs7204609 polymorphism in the FTO gene increased the chance ... BeFree 21741858 Detail
0.025 diabetes mellitus A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes d... BeFree 21741858 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent The rs7204609 polymorphism in the fat mass and obesity-associated gene is positi... BeFree 21741858 Detail
<0.001 Microalbuminuria The rs7204609 polymorphism in the fat mass and obesity-associated gene is positi... BeFree 21741858 Detail
<0.001 diabetes mellitus A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes d... BeFree 21741858 Detail
0.008 Diabetes A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes d... BeFree 21741858 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes d... BeFree 21741858 Detail
<0.001 Obesity, Abdominal The rs7204609 polymorphism in the fat mass and obesity-associated gene is positi... BeFree 21741858 Detail
Annotation

Annotations

DescrptionSourceLinks
A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes duration: 12.7 ± 8.2 ... DisGeNET Detail
The C allele of the rs7204609 polymorphism in the FTO gene increased the chance for the presence of ... DisGeNET Detail
A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes duration: 12.7 ± 8.2 ... DisGeNET Detail
The rs7204609 polymorphism in the fat mass and obesity-associated gene is positively associated with... DisGeNET Detail
The rs7204609 polymorphism in the fat mass and obesity-associated gene is positively associated with... DisGeNET Detail
A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes duration: 12.7 ± 8.2 ... DisGeNET Detail
A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes duration: 12.7 ± 8.2 ... DisGeNET Detail
A total of 236 patients with type 2 diabetes (age: 60.0 ± 10.3 years; diabetes duration: 12.7 ± 8.2 ... DisGeNET Detail
The rs7204609 polymorphism in the fat mass and obesity-associated gene is positively associated with... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7204609 dbSNP
Genome
hg19
Position
chr16:53,833,605-53,833,605
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs7204609
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4117
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6900
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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