. 2018 Nov 20;19:826. doi: 10.1186/s12864-018-5219-3

Table 1.

Characteristics of candidate SNP representing LD blocks in the CHRNA5/A3/B4 locus

Group	Candidate lead SNP	Asociation with RNA expression^a	Clinical phenotype^b
1	rs16969968	nsSNP alters CHRNA5 receptor function (CHRNA5)	Smoking-related, cardiovascular, pulmonary/lung cancer
2–1	rs880395	enhanced expression of CHRNA5/3 in brain and peripheral tissues	Smoking-related, cardiovascular, pulmonary/lung cancer
2–2	rs1948	enhanced expression of CHRNA3 in brain basal ganglia	Smoking-related, cardiovascular, pulmonary/lung cancer
3	rs4887074	reduced expression of CHRNB4 in peripheral tissues^c	Smoking-related Cardio-vascular
4	rs6495308	reduced expression of CHRNA5/3 in peripheral tissues	Smoking-related, cardiovascular, pulmonary/lung cancer

^aBased on GTEx

^bBased on GWAS catalog and dbGaP database

^cNo brain expression eQTLs available in brain regions because of low mRNA expression