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. 2020 Apr 14;16(4):e1007819. doi: 10.1371/journal.pcbi.1007819

Table 12. Cleft SNPs identified by DOT in the analysis of GWAS data.

Gene Number of SNPs in analysis (L) rs number Reference
ABCA4 30 rs4847196 This SNP was previously studied in connection to cleft lip [56] but the association was found to be not statistically significant.
rs563429 This SNP was also previously considered in association with cleft lip [56] but found to be not statistically significant.
rs2275035 Was recently identified to be associated with orofacial clefting [61].
rs546550 A new association with susceptibility to cleft lip. This SNP was previously suggested to be linked to esophageal cancer [62].
chr. 8q24 29 rs987525 One of the top results was the anchor SNP [58].
rs882083 Was previously suggested to be associated with cleft lip [56, 58].
rs1157136 Was previously suggested to be associated with cleft lip in Brazilian population [63].
rs12548036 Was previously studied in connection to susceptibility to cleft lip in Japanese population [64] but the association was found to be not statistically significant.
rs1530300 Was previously suggested to be associated with cleft lip in Brazilian population [57] and Brazilian population with high African ancestry [65].
rs12547241 A new association with susceptibility to cleft lip.
IRF6 6 rs10863790 One of the top contributions was the anchor SNP [59].
rs861020 Was previously reported to be associated with cleft lip [59, 66, 67].
rs2236906 Was considered to be associated with cleft lip in a Kenya African Cohort [68] and in general population [69].
rs2073485 Was reported to be associated with cleft lip in Western China [70] and Taiwanese population [71].
MAFB 14 rs11696257 Was previously reported to be associated with cleft lip [56, 72].
rs6102085 Was previously reported to be associated with cleft lip in Han Chinese population [73].
rs6065259 Was previously reported to be associated with cleft lip in a population in Heilongjiang Province, northern China [74].
rs6102074 Was previously reported to be associated with cleft lip in Han Chinese population [73, 75].