Annotation Detail

Information
Associated Genes
APOA1
Associated Variants
APOA1 MUTATION
APOA1 MUTATION
CTSS c.-25G>A ( ENST00000680664.1, ENST00000679512.1, ENST00000680311.1, ENST00000448301.7, ENST00000681728.1, ENST00000368985.8, ENST00000679898.1, ENST00000679582.1, ENST00000680288.1 )
rs10888394
CTSS c.-25G>A ( ENST00000368985.8, ENST00000448301.7, ENST00000679512.1, ENST00000679582.1, ENST00000679898.1, ENST00000680288.1, ENST00000680311.1, ENST00000680664.1, ENST00000681728.1 )
rs10888394
Associated Disease
obesity
Source Database
DisGeNET
Description
In the obese cohort, associations were found between three tSNPs and Apo-A1 levels in adult female subjects: rs10888390 (G/A), p = 0.01; rs10888394 (T/C), p = 0.03; and rs1136774 (C/T), p = 0.02; however, only rs10888390 remained significant in a combined model (p = 0.03).
Pubmed
18565099
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0132683141235324
Year of publication
2008
Drugs