Table 1.
SNP | RS-id | Additional Information |
---|---|---|
−14010:G>C ** | rs145946881 | Widely studied and associated |
−14009:T>G ** | rs869051967 | Widely studied and associated |
−13915:T>G ** | rs41380347 | Widely studied and associated |
−13910:C>T ** | rs4988235 | Widely studied and associated |
−13907:C>G ** | rs41525747 | Widely studied and associated |
−22.018:G>A | rs182549 | In complete LD with the causal −14010:G>C |
−14011:C>T * | rs4988233 | |
−13906:T>A | ||
−13779:G>C * | rs527991977 | |
−13744:C>G | ||
−13730:T>G | rs4954492 | |
−13603:C>T | rs56348046 | |
−13495:C>T | rs4954490 | |
−13914:G>A | Rare variant (q < 5%) | |
−14062:G>A | Rare variant (q < 5%) | |
−14028:T>C | rs759157971 | Rare variant (q < 5%) |
−13753:C>T | Rare variant (q < 5%) | |
−13693:G>A | Rare variant (q < 5%) | |
−13806:A>G | ss820496565 | Rare variant (q < 5%) |
−13964:C>A | Rare variant (q < 5%) | |
−13771:A>G | Rare variant (q < 5%) | |
−14010 G>A | rs145946881 | Rare variant (q < 5%) |
−13926 A>C | Rare variant (q < 5%) |
For all included genetic variants, we report any available identifier as well as any evidence of functional control on LCT expression according to the literature. Evidence of functional role in controlling LCT expression is indicated as follows: ** for validated functional SNPs, * some evidence for functional SNPs. Abbreviations: LD, Linkage Disequilibrium; RS-id, Reference SNP identifier; SNP, Single Nucleotide Polymorphism.