Table 2.
Details of polymorphisms genotyped and the minor allele frequency (MAF) of variants in the Indian study population.
| Common Designation | Location | Amino Acid Change | SNP Identity | Physical Position1 (bp) | Alleles2 | MAF |
|---|---|---|---|---|---|---|
| GTn | 5'UTR | rs34448891 | 218954900 | 118/1204 | 0.190 | |
| -237C/T | 5'UTR | rs7573065 | 218954951 | C/T | 0.068 | |
| 274C/T3 | Exon 3 | F66F | rs2276631 | 218957257 | G/A | 0.141 |
| 469 + 14G/C3 | Intron 4 | rs3731865 | 218958247 | C/G | 0.142 | |
| 823 C/T3 | Exon 8 | G249G | rs17221959 | 218960874 | C/T | 0.193 |
| 1465-85G/A3 | Intron 13 | rs2279015 | 218967514 | C/T | 0.323 | |
| D543N G/A3 | Exon 15 | D543N | rs17235409 | 218967976 | G/A | 0.073 |
| 1729 + 55del43 (TGTG) | 3'UTR | rs17235416 | 218968058 | IN/DEL | 0.067 | |
| 1729 + 263del43 (CAAA) | 3'UTR | rs17229009 | 218968275 | DEL/IN | 0.287 | |
1 Physical positions of markers are given according to Build 36.3 of the human genome; 2Major > minor alleles for this Indian population; 3bp positions of variants relative to an arbitrary site 76bp upstream [33] of the methionine start codon; 4allele 3/allele 2 (alleles 1 and 4 were rare or absent from this population).