chr16:53809247:G>A Detail (hg19) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,809,247-53,809,247
hg38 chr16:53,775,335-53,775,335 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-34805G>A
Ensemble ENST00000636491.1:c.28-34805G>A
ENST00000636218.1:c.46-34805G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.224
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 tgv55542146 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
0.400 obesity Genome wide association (GWA) study for early onset extreme obesity supports the... GWASCAT 18159244 Detail
<0.001 Overweight and obesity Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to over... BeFree 24091943 Detail
0.001 Overweight and obesity Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to over... BeFree 24091943 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
Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass an... DisGeNET Detail
Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to overweight and obesity, ... DisGeNET Detail
Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to overweight and obesity, ... 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
rs1121980 dbSNP
Genome
hg19
Position
chr16:53,809,247-53,809,247
Variant Type
snv
Reference Allele
G
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))
rs1121980
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2237
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3750
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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