chr3:185530290:T>C Detail (hg19) (IGF2BP2)

Information

Genome

Assembly Position
hg19 chr3:185,530,290-185,530,290
hg38 chr3:185,812,502-185,812,502 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001007225.1:c.239+10651A>G
NM_006548.4:c.239+10651A>G
NM_001291872.1:c.50+8510A>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 tgv15421436 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
0.336 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.327 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asia... GWASCAT 18711366 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European popul... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6769511 dbSNP
Genome
hg19
Position
chr3:185,530,290-185,530,290
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))
rs6769511
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3462
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5803
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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