chr16:53735765:G>A Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,769,677-53,769,677 View the variant detail on this assembly version.
hg38 chr16:53,735,765-53,735,765

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.45+31536G>A
Ensemble ENST00000471389.6:c.45+31536G>A
ENST00000636218.1:c.45+31536G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.142
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 tgv55541324 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
0.251 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.791 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.159 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.400 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.153 obesity Among those previously identified SNPs, we selected six (rs7138803, rs1805081, r... BeFree 20843981 Detail
Annotation

Annotations

DescrptionSourceLinks
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6499640 dbSNP
Genome
hg38
Position
chr16:53,735,765-53,735,765
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))
rs6499640
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1424
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2387
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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