Annotation Detail

Information
Associated Genes
TCF7L2 LOC110121472
Associated Variants
TCF7L2 c.450+33966C>T ( ENST00000534894.5, ENST00000355995.9, ENST00000369397.8, ENST00000352065.10, ENST00000538897.5, ENST00000627217.3, ENST00000704414.1, ENST00000629706.2, ENST00000355717.9, ENST00000545257.6, ENST00000369395.6, ENST00000277945.12 )
TCF7L2 c.450+33966C>T ( ENST00000277945.12, ENST00000352065.10, ENST00000355717.9, ENST00000355995.9, ENST00000369395.6, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2, ENST00000704414.1 )
Associated Disease
Diabetes mellitus type 2, susceptibility to
Source Database
ClinVar
Description
NM_001367943.1(TCF7L2):c.450+33966C>T AND Diabetes mellitus type 2, susceptibility to
Pubmed
18097733
Pubmed
20118932
Pubmed
16415884
Pubmed
17463249
Pubmed
17463246
Pubmed
17463248
Pubmed
17245407
Pubmed
17460697
Pubmed
17206141
Pubmed
17671651
Pubmed
17503332
ClinVar Allele ID
22452
ClinVar RefSeq Alternation Syntax
NM_001367943.1:c.450+33966C>T
ClinVar RefSeq Alternation Syntax
NM_001198527.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001363501.2:c.450+33966C>T
ClinVar RefSeq Alternation Syntax
NM_001198531.2:c.450+33966C>T
ClinVar RefSeq Alternation Syntax
NM_001146274.2:c.450+33966C>T
ClinVar RefSeq Alternation Syntax
NM_001198525.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001146286.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_030756.5:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001146284.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001198529.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001198526.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001146285.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001198530.2:c.381+46983C>T
ClinVar RefSeq Alternation Syntax
NM_001146283.2:c.382-41435C>T
ClinVar RefSeq Alternation Syntax
NM_001198528.2:c.382-41435C>T
Clinical Significance Description
risk factor
Clinical Significance Last Update
2011-09-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000007838
ClinVar Disease
Diabetes mellitus type 2, susceptibility to
Observed Origin Sample
germline
Pubmed
19602480
Pubmed
17470138
Pubmed
21673050
Pubmed
17609304
Drugs