Annotation Detail

Information
Associated Genes
IL10
Associated Variants
PTH c.87-50G>T ( ENST00000529816.1, ENST00000282091.6 )
PTH c.87-50G>A ( ENST00000529816.1, ENST00000282091.6 )
VDR c.1024+283G>A ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
IL19 c.-149+2211A>G ( ENST00000664374.2, ENST00000659065.2, ENST00000659642.2, ENST00000659997.3, ENST00000656872.2 )
PTH c.87-50G>T ( ENST00000282091.6, ENST00000529816.1 )
PTH c.87-50G>A ( ENST00000282091.6, ENST00000529816.1 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
IL19 c.-149+2211A>G ( ENST00000659065.2, ENST00000659642.2, ENST00000664374.2, ENST00000656872.2, ENST00000659997.3 )
Associated Disease
aortic valve stenosis
Source Database
DisGeNET
Description
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 polymorphism within the PTH gene, and rs1800871 polymorphism within the IL10 gene may be associated with aortic stenosis with low level of evidence.
Pubmed
24903972
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2014
Drugs