Research Article
Analysis of COCH and TNFA Variants in East Indian Primary Open-Angle Glaucoma Patients
Table 1
Variants identified in COCH.
| | SNP ID | Location | Minor allele frequency (db SNP*) | Minor allele frequency in patients |
| | rs111033189 del T | Intron 3 | NA | 0.05 | | rs80152933 T/C | Intron 3 | NA | 0.05 | | rs28362773 T/G | Intron 9 | 0.138 | 0.025 | | rs12881068 A/T | Intron 9 | 0.145 | 0.045 | | rs28362776 C/T | Intron 10 | 0.022 | 0.04 | | rs1045644 C/G | Exon 11 (Thr352Ser) | 0.467 | 0.15 | | rs13122 A/T | 3′ UTR | 0.175 | 0.01 | | rs8014942 C/T | 5′ upstream region | 0.4886 | 0.16 | | rs8015095 T/G | 5′ upstream region | 0.197 | 0.05 | | rs28400019 G/A | 5′ upstream region | 0.0847 | 0.03 | | rs28400021 C/T | 5′ upstream region | 0.2381 | 0.24 | | −450 C/T (novel change) | 5′ upstream region | NA | 0.015
(0.01 in control) | | rs11555426 G/A | 5′ upstream region | 0.10032 | 0.05 | | −79 G/C (novel change) | 5′ upstream region | NA | 0.005
(not detected in control) |
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http://www.ncbi.nlm.nih.gov/projects/SNP/.
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