Table 1.
Summary of six SNPs with significant linear association
| SNP ID | Chr | Posa | Minor allele | Gene | Motif | Trait | Reference (PubMed) |
|---|---|---|---|---|---|---|---|
| rs56675509 | 1 | 18971634 | C | PAX7 | ZBTB14 | CL/P_all_pop | Mukhopadhyay et al.34 |
| rs1339063 | 1 | 18989575 | T | PAX7 | LEF1 | CL/P_all_pop | Mukhopadhyay et al. 34 |
| rs2302304 | 19 | 3733651 | A | TJP3 | Nkx2-5 | cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) | Haaland et al.55 |
| rs6495117 | 15 | 74899500 | A | CLK3 | EGR1 | nonsyndromic cleft lip with cleft palate | Yu et al.56 |
| rs11787407 | 8 | 129985440 | G | LINC00976/CCDC26 | JUN/FOS | csa_CL/P,eur_CL/P, CL/P_all_pop | Mukhopadhyay et al.34 |
| rs12075674 | 1 | 209995470 | A | IRF6 | AFP | csa_CL/P, CL/P_all_pop | Mukhopadhyay et al.34 |
csa_CL/P, cleft lip with or without palate in Central/South Asian ancestry; eur_CL/P, cleft lip with or without palate in European ancestry; CL/P_all_pop, cleft lip with or without palate in all populations (European and Central/South Asian).
a
hg19.