Annotation Detail

Information
Associated Genes
SLC24A3
Associated Variants
rs10918594
NOS1AP c.106-38510G>T ( ENST00000530878.5, ENST00000361897.10 )
rs10918594
NOS1AP c.106-38510G>T ( ENST00000361897.10, ENST00000530878.5 )
Associated Disease
Superficial ulcer
Source Database
DisGeNET
Description
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead extractions for standard indications (5 device erosion; 1 vascular occlusion; 11 lead malfunction or recall) were genotyped for 2 NOS1AP single nucleotide polymorphisms-rs10494366 (T to G) and rs10918594 (C to G)-and had RNA levels measured by real-time polymerase chain reaction for collagen I, troponin I, Ca(v)1.2, Kv4.3, HERG, KvLQT1, connexin 43, NOS1AP, and sodium-calcium exchanger.
Pubmed
22019493
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs