Annotation Detail

Information
Associated Genes
NADSYN1
Associated Variants
NADSYN1 c.146+1233G>T ( ENST00000319023.7 )
CYP27B1 c.1137-29T>C ( ENST00000228606.9, ENST00000713544.1, ENST00000713545.1, ENST00000546567.5 )
NADSYN1 c.146+1233G>T ( ENST00000319023.7 )
CYP27B1 c.1137-29T>C ( ENST00000228606.9, ENST00000546567.5, ENST00000713544.1, ENST00000713545.1 )
Associated Disease
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in islet autoimmunity, the preclinical phase of T1D.
Pubmed
23979957
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs