chr16:53766656:G>A Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,800,568-53,800,568 View the variant detail on this assembly version.
hg38 chr16:53,766,656-53,766,656

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-43484G>A
Ensemble ENST00000471389.6:c.46-43484G>A
ENST00000636218.1:c.46-43484G>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 tgv55541993 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 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
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
rs9939973 dbSNP
Genome
hg38
Position
chr16:53,766,656-53,766,656
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))
rs9939973
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2236
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3748
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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