chr10:113051557:T>C Detail (hg38) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,811,316-114,811,316 View the variant detail on this assembly version.
hg38 chr10:113,051,557-113,051,557

HGVS

Type Transcript Protein
RefSeq NM_001198528.1:c.483+11431T>C
NM_001146283.1:c.483+11431T>C
NM_001198527.1:c.483+11431T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.067
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 tgv40708725 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
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
Annotation

Annotations

DescrptionSourceLinks
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11196208 dbSNP
Genome
hg38
Position
chr10:113,051,557-113,051,557
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))
rs11196208
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0666
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1116
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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