Table 1.

Disease-associated SNPs correlated with ANRIL expression.

SNP	Disease association	Reported effect on ANRIL expression
rs564398-A	Risk allele for diabetes and atherosclerotic stroke [65]	Reduced ANRIL expression (exons 1–2). Twice reported to exert the strongest influence in ANRIL expression in peripheral blood [21,23]
rs1063192-C	Risk for glioma [16] and open angle glaucoma [6]	Increased ANRIL expression (exons 1–2) [21,23]
rs1011970-T	Melanoma [13]	Reduced expression of ANRIL (exons 1–2) [23]
rs2151280-T	Risk allele for plexiform neurofibroma development [64] and protective allele for BCC [11]	Reduced expression of ANRIL (exons 15–16) [64]
rs3731217-G	Risk allele for Acute lymphoblastic leukemia [9]	Reduced expression of ANRIL (exons 17–18) [21]
rs496892-G	Risk for atherosclerotic stroke [65] and periodontitis	Reduced ANRIL expression (exons 1–2) [21,23]
rs10757278-G	Lead SNP for CAD risk [66]	Increased ANRIL variant EU741058 expression (exons 1–5 of the long transcript) [22], but reduced expression of ANRIL exons 1–2 [23].
rs3731257-G	Risk allele for ovarian cancer [15]	Increased expression of ANRIL (exons 1–2) [23]
rs10811661-T	Risk allele for diabetes [2]	Reduced ANRIL expression (exons 1–2) [23]

Exon numbers are based on the 19 exon transcript.