chr16:53767042:T>C Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,800,954-53,800,954 View the variant detail on this assembly version.
hg38 chr16:53,767,042-53,767,042

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-43098T>C
Ensemble ENST00000471389.6:c.46-43098T>C
ENST00000636218.1:c.46-43098T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.194
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
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 tgv55542001 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2015-09-03 no assertion criteria provided OBESITY (BMIQ14), SUSCEPTIBILITY TO germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.400 obesity In addition to FTO and MC4R, we detected significant association of obesity with... GWASCAT 19151714 Detail
0.400 obesity In European populations, common variants (rs1421085-C, rs17817449-G, and rs99396... BeFree 17928949 Detail
0.400 obesity Association of obesity with rs1421085 and rs9939609 polymorphisms of FTO gene. BeFree 25074273 Detail
<0.001 obesity Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043... BeFree 25542809 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent In the present study, we analyzed independent and combined effects of the FTO rs... BeFree 19255736 Detail
0.400 obesity Obesity risk alleles at FTO rs1421085 significantly predicted more eating episod... BeFree 22513296 Detail
0.400 obesity Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and p... GWASCAT 23563607 Detail
0.400 obesity The FTO rs1421085 T&gt;C polymorphism may modulate the magnitude of dyslipidemia... BeFree 24331679 Detail
<0.001 obesity In the present study, we analyzed independent and combined effects of the FTO rs... BeFree 19255736 Detail
0.003 Ovarian Diseases To understand the role of the FTO gene in polycystic ovary syndrome (PCOS) we ge... BeFree 18572014 Detail
0.400 obesity Genome-wide SNP and CNV analysis identifies common and low-frequency variants as... GWASCAT 23563609 Detail
0.002 Pediatric Obesity Variant rs1421085 in the FTO gene contribute childhood obesity in Chinese childr... BeFree 24331679 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001080432.3(FTO):c.46-43098T>C AND OBESITY (BMIQ14), SUSCEPTIBILITY TO ClinVar Detail
In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci... DisGeNET Detail
In European populations, common variants (rs1421085-C, rs17817449-G, and rs9939609-A) in the fat mas... DisGeNET Detail
Association of obesity with rs1421085 and rs9939609 polymorphisms of FTO gene. DisGeNET Detail
Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043757 (A/T)) showed th... DisGeNET Detail
In the present study, we analyzed independent and combined effects of the FTO rs1421085 and MC4R rs1... DisGeNET Detail
Obesity risk alleles at FTO rs1421085 significantly predicted more eating episodes per day (P = 0.00... DisGeNET Detail
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights int... DisGeNET Detail
The FTO rs1421085 T&gt;C polymorphism may modulate the magnitude of dyslipidemia in Chinese early-on... DisGeNET Detail
In the present study, we analyzed independent and combined effects of the FTO rs1421085 and MC4R rs1... DisGeNET Detail
To understand the role of the FTO gene in polycystic ovary syndrome (PCOS) we genotyped single nucle... DisGeNET Detail
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe... DisGeNET Detail
Variant rs1421085 in the FTO gene contribute childhood obesity in Chinese children aged 3-6 years. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1421085 dbSNP
Genome
hg38
Position
chr16:53,767,042-53,767,042
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1421085
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1945
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3259
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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