chr16:53788739:A>G Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,822,651-53,822,651 View the variant detail on this assembly version.
hg38 chr16:53,788,739-53,788,739

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-21401A>G
Ensemble ENST00000471389.6:c.46-21401A>G
ENST00000636218.1:c.46-21401A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.197
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 tgv55542423 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 meta-analysis identifies 11 new loci for anthropometric traits and p... GWASCAT 23563607 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights int... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7185735 dbSNP
Genome
hg38
Position
chr16:53,788,739-53,788,739
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))
rs7185735
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1971
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3303
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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