chr2:118846885:T>C Detail (hg19) (INSIG2)

Information

Genome

Assembly Position
hg19 chr2:118,846,885-118,846,885
hg38 chr2:118,089,309-118,089,309 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001321329.1:c.-139+768T>C
NM_001321330.1:c.-139+768T>C
NM_001321331.1:c.-139+768T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.550
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 608660 OMIM
HGNC 20452 HGNC
Ensembl ENSG00000125629 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8321712 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
0.069 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.400 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.791 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
<0.001 Non-alcoholic Fatty Liver Disease Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
Annotation

Annotations

DescrptionSourceLinks
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13428113 dbSNP
Genome
hg19
Position
chr2:118,846,885-118,846,885
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))
rs13428113
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5501
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9220
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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