chr3:185811292:A>C Detail (hg38) (IGF2BP2)

Information

Genome

Assembly Position
hg19 chr3:185,529,080-185,529,080 View the variant detail on this assembly version.
hg38 chr3:185,811,292-185,811,292

HGVS

Type Transcript Protein
RefSeq NM_001007225.1:c.239+11861T>G
NM_006548.4:c.239+11861T>G
NM_001291872.1:c.50+9720T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.346
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 608289 OMIM
HGNC 28867 HGNC
Ensembl ENSG00000073792 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15421404 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
0.452 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association study identifies a novel locus contributing to type 2 di... GWASCAT 23300278 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Twelve type 2 diabetes susceptibility loci identified through large-scale associ... GWASCAT 20581827 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent We analysed here the association between T2D (and related traits) and rs4402960 ... BeFree 20627640 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent The IGF2BP2 gene rs1470579 and rs4402960 polymorphisms were associated with T2DM... BeFree 25247335 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent The association of Insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2)... BeFree 23029108 Detail
0.126 gestational diabetes A genome-wide association study of gestational diabetes mellitus in Korean women... GWASCAT 22233651 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent We analysed here the association between T2D (and related traits) and rs4402960 ... BeFree 20627640 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association study identifies three novel loci for type 2 diabetes. GWASCAT 23945395 Detail
0.126 gestational diabetes [, we have confirmed that genetic variants in CDKAL1 and near MTNR1B are strongl... GAD 22233651 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.176 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.009 gestational diabetes 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HH... BeFree 22591707 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibilit... DisGeNET Detail
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. DisGeNET Detail
We analysed here the association between T2D (and related traits) and rs4402960 and rs1470579 in IGF... DisGeNET Detail
The IGF2BP2 gene rs1470579 and rs4402960 polymorphisms were associated with T2DM and therapeutic eff... DisGeNET Detail
The association of Insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) common variants (rs... DisGeNET Detail
A genome-wide association study of gestational diabetes mellitus in Korean women. DisGeNET Detail
We analysed here the association between T2D (and related traits) and rs4402960 and rs1470579 in IGF... DisGeNET Detail
Genome-wide association study identifies three novel loci for type 2 diabetes. DisGeNET Detail
[, we have confirmed that genetic variants in CDKAL1 and near MTNR1B are strongly associated with GD... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1470579 dbSNP
Genome
hg38
Position
chr3:185,811,292-185,811,292
Variant Type
snv
Reference Allele
A
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))
rs1470579
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3461
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5800
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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