Previously reported index SNP | Genea | Previously reported association phenotype | Reference | Tested SNP | LD (r2)b | Coded allele | Non-coded allele | Associated facial traits in Phase 1 | Association results | |
---|---|---|---|---|---|---|---|---|---|---|
beta ± se | P-value | |||||||||
rs7559271 | PAX3 | Nasion position,n-men | rs11683100 | 0.70 | G | T | Profile nasal area | 0.007 ± 0.004 | 0.043 | |
rs4648379 | PRDM16 | AlrR-Prn, AlrL-Prn | Liu et al. [13] | rs4648478 | 0.65 | G | A | Profile nasal angle | −0.005 ± 0.001 | 5.70 × 10− 6 |
rs6555969 | C5orf50 | ZygR-Nsn,ZygL-Nsn,EyeR-Nsn,EyeL-Nsn | Liu et al. [13] | rs6555969 | 1.00 | T | C | Right palpebrale fissure length | 0.086 ± 0.069 | 0.210 |
rs805722 | COL17A1 | EyeR-Nsn,EyeL-Nsn | Liu et al. [13] | rs805693 | 0.97 | T | C | Left palpebral fissure height | −0.039 ± 0.036 | 0.288 |
rs2045323 | DCHS2 | Columella inclination,Nose protrusion,Nose tip angle | Adhikari et al. [14] | rs4315762 | 0.68 | G | C | Subnasal width | −0.247 ± 0.054 | 4.84 × 10−6 |
rs1852985 | SUPT3H/RUNX2 | Nose bridge breadth | Adhikari et al. [14] | rs1284964 | 1.00 | G | A | Nasal bridge angle | 0.429 ± 0.101 | 2.28 × 10−5 |
rs2424399 | PAX1 | Nasal width | Shaffer et al. [15] | rs6082475 | 1.00 | G | A | Subnasal width | 0.164 ± 0.049 | 7.28 × 10−4 |
rs9868698 | SCHIP1 | PC4(facial height, nasal width) | Cole et al. [16] | rs627865 | 0.98 | G | C | Subnasal width | 0.036 ± 0.051 | 0.485 |
rs2817419 | TFAP2B | EX_R_EX_L(outer canthal width) | Cole et al. [16] | rs3857597 | 0.77 | T | C | Outercanthal width | 0.228 ± 0.138 | 0.098 |
rs35965172 | TFAP2B | EN_EX(Palpebral fissure length) | Cole et al. [16] | rs3857597 | 0.78 | T | C | Right eyelid width | 0.011 ± 0.008 | 0.196 |
rs7836044 | intergenic | STO_SL(lower lip height) | Cole et al. [16] | rs3850505 | 0.99 | C | T | Left upper lip thickness | −0.006 ± 0.004 | 0.163 |
rs9456748 | PARK2 | factor 9(Facial height related to the vertical position of nasion; Nasion) | Lee et al. [17] | rs6904579 | 0.86 | G | A | Facial height | −0.212 ± 0.099 | 0.033 |
rs5781117 | LYPLAL1 | nose size | Pickrell et al. [21] | rs2605100 | 0.78 | T | C | Profile nasal angle | 0.003 ± 0.001 | 0.030 |
rs424737 | ROBO1 | nose size | Pickrell et al. [21] | rs333472 | 1.00 | C | T | Nasal tip height | 0.007 ± 0.003 | 6.58 × 10−3 |
rs2929451 | PPP1R3B | nose size | Pickrell et al. [21] | rs2929453 | 0.94 | G | A | Nasal tip protrusion | −0.009 ± 0.007 | 0.212 |
rs10779169 | RASSF9 | nose size | Pickrell et al. [21] | rs2405254 | 0.99 | T | A | Profile nasal angle | 0.003 ± 0.001 | 8.30 × 10−3 |
rs11782517 | MSRA | nose size | Pickrell et al. [21] | rs12544801 | 0.90 | G | C | Nasolabial angle | −0.005 ± 0.003 | 0.081 |
rs767764 | DLC1 | nose size | Pickrell et al. [21] | rs2278945 | 0.71 | G | A | Nasal bridge angle | −0.307 ± 0.092 | 8.94 × 10−4 |
rs34702092 | RAD51B | nose size | Pickrell et al. [21] | rs11624333 | 1.00 | G | A | Nasal bridge angle | −0.438 ± 0.156 | 5.02 × 10−3 |
rs6101567 | DHX35 | nose size | Pickrell et al. [21] | rs6129346 | 0.99 | C | T | Frontal nasal height | −0.299 ± 0.076 | 7.53 × 10−5 |