Skip to main content
. 2017 Dec 19;102(9):1213–1217. doi: 10.1136/bjophthalmol-2017-311384

Table 1.

SNPs, MAF and test for HWE and corresponding reported MAF in the 1000 genomes project in South Asian and European populations

Chromosome Gene SNP Major/minor alleles HWE* MAF† MAF EUR‡ MAF SAS§
1 Y402H rs1061170 T/C 0.6854 0.323 0.362 0.287
4 TLR3 rs3775291 C/T 0.9347 0.235 0.324 0.263
6 C2 rs547154 C/A 0.3813 0.187 0.089 0.156
6 SKIV2L rs438999 A/G 0.6932 0.183 0.089 0.148
6 LOC107986598 rs4711751 T/C 1 0.423 0.487 0.330
6 FRK rs1999930 C/T 0.3957 0.075 0.281 0.052
9 ABCA1 rs1883025 C/T 0.0797 0.432 0.240 0.413
10 ARMS2 rs10490923 G/A 0.7299 0.149 0.130 0.148
10 ARMS2 rs10490924 G/T 0.1953 0.319 0.195 0.343
10 HTRA1 rs2672598 T/C** 0.2969 0.524 0.499 0.464
15 LIPC rs10468017 C/T 0.9195 0.176 0.283 0.184
16 CETP rs3764261 C/A 0.0737 0.295 0.292 0.321
19 APOE rs429358 T/C 1 0.097 0.155 0.087
19 APOE rs7412 C/T 0.5232 0.050 0.063 0.044
19 CFD rs3826945 T/C 0.8424 0.344 0.313 0.334

*P value for tests for departure from Hardy-Weinberg equilibrium (HWE) in controls.

†Minor allele frequency (MAF) in controls.

‡MAF from 1000 genome study for European ancestry available at https://www.ncbi.nlm.nih.gov/snp.

§MAF from 1000 genome study for South Asian ancestry available at https://www.ncbi.nlm.nih.gov/snp.

¶SNP located near VEGFA.

**Minor allele considered as C for comparison with other studies.

SNP, single nucleotide polymorphisms.