Table 2.
Characteristics of region of advanced glycosylation end‐product variants identified by resequencing in 48 control subjects
| Gene position a | dbSNP ID b | HGVS c | Gene region | Maj > Min d | MAF |
|---|---|---|---|---|---|
| chr6:32184157 | rs3131300 | NC_000006.11:g.32151934A > G | Intron1 | C/T | 0.084 |
| chr6:32183666 | rs2070600 | NC_000006.11:g.32151443C > T | Exon3(G82S) | G/A | 0.236 |
| chr6:32183681 | rs80096349 | NC_000006.11:g.32151458G > A | Exon3 | A/G | 0.01 |
| chr6:32183445 | rs1035798 | NC_000006.11:g.32151222G > A | Intron3 | C/T | 0.145 |
| chr6:32183517 | rs2269422 | NC_000006.11:g.32151294 T > C | Intron3 | A/G | 0.052 |
| chr6:32182721 | rs17846798 | NC_000006.11:g.32150498G > A | Intron6 | C/T | 0.052 |
| chr6:32182783 | rs17846810 | NC_000006.11:g.32150560G > T | Intron6 | C/A | 0.01 |
| chr6:32182784 | rs17846809 | NC_000006.11:g.32150561G > A | Intron6 | C/T | 0.01 |
| chr6:32182519 | rs184003 | NC_000006.11:g.32150296C > A | Intron7 | G/T | 0.188 |
| chr6:32181979 | rs55640627 | NC_000006.11:g.32149756C > T | Intron8 | C/T | 0.021 |
| chr6:32182106 | rs204996 | NC_000006.11:g.32149883C > T | Intron8 | G/A | 0.02 |
| chr6:32181760 | rs3134941 | NC_000006.11:g.32149537C > G | Intron8 | G/C | 0.01 |
| chr6:32182039 | rs3134940 | NC_000006.11:g.32149816 T > C | Intron8 | A/G | 0.084 |
| chr6:32182024 | rs9391855 | NC_000006.11:g.32149801C > T | Intron8 | G/A | 0.236 |
| chr6:32181795 | rs2853807 | NC_000006.11:g.32149572G > A | Intron8 | C/T | 0.02 |
| chr6:32181483 | rs2071288 | NC_000006.11:g.32149260C > T | Intron9 | G/A | 0.052 |
| chr6:32181442 | rs143357175 | NC_000006.11:g.32149219G > A | Exon10 | C/T | 0.01 |
MAF, minor allele frequency.
a
Base pair position is based on NCBI GRCh38.
b
Polymorphisms are numbered relative to transcription start site.
d
With major allele given first followed by minor allele.