chr16:53796553:A>G Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,830,465-53,830,465 View the variant detail on this assembly version.
hg38 chr16:53,796,553-53,796,553

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-13587A>G
Ensemble ENST00000471389.6:c.46-13587A>G
ENST00000636218.1:c.46-13587A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.230
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 tgv55542606 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
0.069 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.400 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.791 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
<0.001 Non-alcoholic Fatty Liver Disease Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.400 obesity Analysis of vitamin D receptor (VDR) TaqI (rs731236; T/C) and fat mass and obesi... BeFree 23103831 Detail
0.400 obesity Genome-wide association scan shows genetic variants in the FTO gene are associat... GWASCAT 17658951 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
Annotation

Annotations

DescrptionSourceLinks
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Analysis of vitamin D receptor (VDR) TaqI (rs731236; T/C) and fat mass and obesity-associated (FTO) ... DisGeNET Detail
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-rela... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9930506 dbSNP
Genome
hg38
Position
chr16:53,796,553-53,796,553
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs9930506
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2303
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3859
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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