chr16:53818460:G>T Detail (hg19) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,818,460-53,818,460
hg38 chr16:53,784,548-53,784,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.46-25592G>T
Ensemble ENST00000471389.6:c.46-25592G>T
ENST00000637001.1:c.46-25592G>T
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 tgv55542319 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
0.005 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
0.008 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
Annotation

Annotations

DescrptionSourceLinks
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3751812 dbSNP
Genome
hg19
Position
chr16:53,818,460-53,818,460
Variant Type
snv
Reference Allele
G
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))
rs3751812
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1968
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3299
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser