Figure 1

SGNE1 genetic variation (A) and LD (B) maps. Genetic variation map: SNPs with MAF ≥ 0.05 are indicated in bold character. SNPs positions were allocated according to the human genome variation society nomenclature http://www.hgvs.org/mutnomen/disc.html#SNP. IVS = intronic variation sequence. rs numbers were indicated for frequent SNPs when available. SNP 1,701A>G is underlined. LD map: LD map was generated using Haploview program. SNPs positions are on scale. LD (measured by correlation coefficient R²) was presented in boxes that correspond to the intersection of two SNPs (e.g. LD between rs13850_1839 and rs11635997_1071 is of 6%).