chr10:114840494:G>A Detail (hg19) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,840,494-114,840,494
hg38 chr10:113,080,735-113,080,735 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198527.1:c.483+40609G>A
NM_001146283.1:c.484-8665G>A
NM_001198525.1:c.483+40609G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.217
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 602228 OMIM
HGNC 11641 HGNC
Ensembl ENSG00000148737 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40709336 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
0.340 Diabetes Mellitus, Non-Insulin-Dependent A case-control study was performed in Han Chinese subjects with normal control (... BeFree 21437630 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent The association between the rs11196218A/G polymorphism of the TCF7L2 gene and ty... BeFree 26247673 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756... BeFree 19718565 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756... BeFree 19718565 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent We analyzed single nucleotide polymorphisms (SNPs) rs11196218 and rs290487 of th... BeFree 22296403 Detail
0.005 Diabetes Mellitus, Non-Insulin-Dependent Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756... BeFree 19718565 Detail
Annotation

Annotations

DescrptionSourceLinks
A case-control study was performed in Han Chinese subjects with normal control (n=152) and T2DM (n=2... DisGeNET Detail
The association between the rs11196218A/G polymorphism of the TCF7L2 gene and type 2 diabetes in the... DisGeNET Detail
Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-depend... DisGeNET Detail
Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-depend... DisGeNET Detail
We analyzed single nucleotide polymorphisms (SNPs) rs11196218 and rs290487 of the TCF7L2 gene, which... DisGeNET Detail
Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-depend... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11196218 dbSNP
Genome
hg19
Position
chr10:114,840,494-114,840,494
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))
rs11196218
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2166
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3631
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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