Annotation Detail

Information
Associated Genes
CDX2
Associated Variants
CDX2 MUTATION
CDX2 MUTATION
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000550325.5, ENST00000549336.6, ENST00000395324.6 )
VDR c.1024+283G>A ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
rs11568820 ( ENST00000395324.6 )
rs7976091 ( ENST00000395324.6 )
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
rs11568820 ( ENST00000395324.6 )
rs7976091 ( ENST00000395324.6 )
Associated Disease
Squamous cell carcinoma of the head and neck
Source Database
DisGeNET
Description
In a post-hoc analysis of our previous prospective cohort study, VDR polymorphisms including Cdx2 G/A (rs11568820), FokI C/T (rs10735810), BsmI A/G (rs1544410), ApaI G/T (rs7976091), and TaqI T/C (rs731236) were genotyped by sequencing in 204 consecutive patients with HNSCC who underwent tumor resection.
Pubmed
22242137
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs