chr16:53779538:A>T Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,813,450-53,813,450 View the variant detail on this assembly version.
hg38 chr16:53,779,538-53,779,538

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-30602A>T
Ensemble ENST00000471389.6:c.46-30602A>T
ENST00000636218.1:c.46-30602A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.196
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 tgv55542212 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 obesity Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043... BeFree 25542809 Detail
0.400 obesity Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and p... GWASCAT 23563607 Detail
Annotation

Annotations

DescrptionSourceLinks
Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043757 (A/T)) showed th... DisGeNET Detail
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
rs8043757 dbSNP
Genome
hg38
Position
chr16:53,779,538-53,779,538
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs8043757
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1958
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3282
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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