chr10:113164066:C>T Detail (hg38) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,923,825-114,923,825 View the variant detail on this assembly version.
hg38 chr10:113,164,066-113,164,066

HGVS

Type Transcript Protein
RefSeq NM_001198528.1:c.*19-1489C>T
NM_001146283.1:c.1391-1489C>T
NM_001198527.1:c.*19-1489C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.648
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 tgv40711386 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
0.018 Diabetes T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... BeFree 24468095 Detail
0.002 Diabetes T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... BeFree 24468095 Detail
0.015 diabetes mellitus T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... BeFree 24468095 Detail
0.045 diabetes mellitus T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... BeFree 24468095 Detail
0.011 diabetes mellitus T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... BeFree 24468095 Detail
0.004 Diabetes T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increa... BeFree 24468095 Detail
Annotation

Annotations

DescrptionSourceLinks
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... DisGeNET Detail
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... DisGeNET Detail
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... DisGeNET Detail
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... DisGeNET Detail
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... DisGeNET Detail
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in p... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs290481 dbSNP
Genome
hg38
Position
chr10:113,164,066-113,164,066
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs290481
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6484
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10868
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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