chr13:110435231:C>T Detail (hg19) (IRS2)

Information

Genome

Assembly Position
hg19 chr13:110,435,231-110,435,231
hg38 chr13:109,782,884-109,782,884 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003749.2:c.3170G>A NP_003740.2:p.Gly1057Asp
Ensemble ENST00000375856.5:c.3170G>A ENST00000375856.5:p.Gly1057Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.422
ToMMo:0.418
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.467

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600797 OMIM
HGNC 6126 HGNC
Ensembl ENSG00000185950 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49856309 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2001-10-01 no assertion criteria provided DIABETES, TYPE II, SUSCEPTIBILITY TO germline Detail
Benign 2019-10-17 criteria provided, single submitter IRS2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.627 Diabetes Mellitus, Non-Insulin-Dependent The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polym... BeFree 22994406 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.004 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.001 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms in the genes encoding the insulin receptor substrate (IRS) protein... BeFree 12213887 Detail
0.005 Diabetes The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.044 polycystic ovary syndrome Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-... BeFree 11522686 Detail
<0.001 Diabetes The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.088 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.401 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms in the genes encoding the insulin receptor substrate (IRS) protein... BeFree 12213887 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms in the genes encoding the insulin receptor substrate (IRS) protein... BeFree 12213887 Detail
0.011 polycystic ovary syndrome Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-... BeFree 11522686 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 Epilepsy, Temporal Lobe Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972... BeFree 25458098 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.089 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 diabetes mellitus The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 Epilepsy, Temporal Lobe Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972... BeFree 25458098 Detail
<0.001 Epilepsy, Temporal Lobe Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972... BeFree 25458098 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polym... BeFree 22994406 Detail
0.010 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.005 diabetes mellitus The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 Coronary heart disease Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coron... BeFree 23216712 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent The relationships between G1057D variants of IRS2 and T2DM are mediated by obesi... BeFree 16086274 Detail
<0.001 Coronary Arteriosclerosis Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coron... BeFree 23216712 Detail
0.015 obesity The G1057D polymorphism of IRS-2 gene and its relationship with obesity in confe... BeFree 16652127 Detail
0.015 obesity Study on the relationship between G1057D variants of IRS2 gene and obese T2DM in... BeFree 16086274 Detail
<0.001 endometriosis To investigate whether the insulin receptor substrate (IRS)-2 G1057D polymorphis... BeFree 19878940 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent The G1057D polymorphism of IRS-2 gene and its relationship with obesity in confe... BeFree 16652127 Detail
0.015 obesity Metabolic effects of the Gly1057Asp polymorphism in IRS-2 and interactions with ... BeFree 12765968 Detail
0.015 obesity Logistic regression analysis with nine haplotypes in the whole sample revealed t... BeFree 12687350 Detail
<0.001 Obesity, Morbid Complex haplotypes of IRS2 gene are associated with severe obesity and reveal he... BeFree 12687350 Detail
<0.001 endometriosis Association of G1057D variant of insulin receptor substrate-2 with endometriosis... BeFree 19878940 Detail
<0.001 Impaired glucose tolerance These data indicate that IRS2 is an influential gene in severe obesity and gluco... BeFree 12687350 Detail
0.002 Ovarian Diseases These results suggest that the IRS-2 Gly(1057)Asp polymorphism influences blood ... BeFree 12213887 Detail
0.006 breast carcinoma Lack of association between insulin receptor substrate2 rs1805097 polymorphism a... BeFree 24497996 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent The G1057D polymorphism in the insulin receptor substrate-2 (IRS-2) gene has bee... BeFree 20184486 Detail
<0.001 Overweight Interaction between the G1057D variant of IRS-2 and overweight in the pathogenes... BeFree 11030756 Detail
0.015 obesity The G1057D polymorphism in the insulin receptor substrate-2 (IRS-2) gene has bee... BeFree 20184486 Detail
<0.001 coronary artery disease Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coron... BeFree 23216712 Detail
<0.001 gestational diabetes The G1057D polymorphism of insulin receptor substrate-2 associated with gestatio... BeFree 24401133 Detail
0.011 Malignant neoplasm of breast Lack of association between insulin receptor substrate2 rs1805097 polymorphism a... BeFree 24497996 Detail
0.015 obesity In conclusion, in our elderly subjects the presence of the allelic variant Gly10... BeFree 23018177 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent Interaction between the G1057D variant of IRS-2 and overweight in the pathogenes... BeFree 11030756 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp) AND DIABETES, TYPE II, SUSCEPTIBILITY TO ClinVar Detail
NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp) AND IRS2-related disorder ClinVar Detail
The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms and type 2 ... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Ar... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin re... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Ar... DisGeNET Detail
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Ar... DisGeNET Detail
Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin re... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972R and insulin recept... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972R and insulin recept... DisGeNET Detail
Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972R and insulin recept... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms and type 2 ... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coronary artery disease i... DisGeNET Detail
The relationships between G1057D variants of IRS2 and T2DM are mediated by obesity. DisGeNET Detail
Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coronary artery disease i... DisGeNET Detail
The G1057D polymorphism of IRS-2 gene and its relationship with obesity in conferring susceptibility... DisGeNET Detail
Study on the relationship between G1057D variants of IRS2 gene and obese T2DM in Chinese Han subject... DisGeNET Detail
To investigate whether the insulin receptor substrate (IRS)-2 G1057D polymorphism is associated with... DisGeNET Detail
The G1057D polymorphism of IRS-2 gene and its relationship with obesity in conferring susceptibility... DisGeNET Detail
Metabolic effects of the Gly1057Asp polymorphism in IRS-2 and interactions with obesity. DisGeNET Detail
Logistic regression analysis with nine haplotypes in the whole sample revealed that obesity was asso... DisGeNET Detail
Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the e... DisGeNET Detail
Association of G1057D variant of insulin receptor substrate-2 with endometriosis. DisGeNET Detail
These data indicate that IRS2 is an influential gene in severe obesity and glucose intolerance in th... DisGeNET Detail
These results suggest that the IRS-2 Gly(1057)Asp polymorphism influences blood glucose levels in no... DisGeNET Detail
Lack of association between insulin receptor substrate2 rs1805097 polymorphism and the risk of color... DisGeNET Detail
The G1057D polymorphism in the insulin receptor substrate-2 (IRS-2) gene has been reported to be ass... DisGeNET Detail
Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabete... DisGeNET Detail
The G1057D polymorphism in the insulin receptor substrate-2 (IRS-2) gene has been reported to be ass... DisGeNET Detail
Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coronary artery disease i... DisGeNET Detail
The G1057D polymorphism of insulin receptor substrate-2 associated with gestational diabetes mellitu... DisGeNET Detail
Lack of association between insulin receptor substrate2 rs1805097 polymorphism and the risk of color... DisGeNET Detail
In conclusion, in our elderly subjects the presence of the allelic variant Gly1057Asp of IRS2 gene w... DisGeNET Detail
Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabete... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1805097 dbSNP
Genome
hg19
Position
chr13:110,435,231-110,435,231
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Gene Symbol (HGVD)
IRS2
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1078
Mean of sample read depth (HGVD)
33.17
Standard deviation of sample read depth (HGVD)
16.90
Number of reference allele (HGVD)
1246
Number of alternative allele (HGVD)
910
Allele Frequency (HGVD)
0.42207792207792205
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))
rs1805097
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4177
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6985
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16722
East Asian Chromosome Counts (ExAC)
1896
East Asian Allele Counts (ExAC)
885
East Asian Heterozygous Counts (ExAC)
545
East Asian Homozygous Counts (ExAC)
170
East Asian Allele Frequency (ExAC)
0.46677215189873417
Chromosome Counts in All Race (ExAC)
26546
Allele Counts in All Race (ExAC)
10142
Heterozygous Counts in All Race (ExAC)
6696
Homozygous Counts in All Race (ExAC)
1723
Allele Frequency in All Race (ExAC)
0.3820537934152038
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