rs number |
Localizationa |
Other designationb |
Region |
MAF |
HWEp-values |
rs7301572 |
chr12:7657543 |
c.-1257G>A |
Promoter |
0.36 |
1.00 |
rs10845306 |
chr12:7657427 |
c.-1141C>T |
Promoter |
0.16 |
1.00 |
rs79302630 |
chr12:7657399 |
c.-1113T>C |
Promoter |
0.06 |
1.00 |
rs11054197 |
chr12:7657322 |
c.-1036C>T |
Promoter |
0.10 |
1.00 |
rs28364798 |
chr12:7657121 |
c.-835delT |
Promoter |
0.30 |
0.71 |
rs10772428 |
chr12:7656902 |
c.-616G>A |
Promoter |
0.35 |
1.00 |
rs11054195 |
chr12:7656849 |
c.-563A>T |
Promoter |
0.08 |
0.24 |
rs3210140 |
chr12:7655137 |
c.70C>T |
Exon2 |
0.39 |
1.00 |
rs116933274 |
chr12:7653726 |
c.457+9T>A |
Intron 3 |
0.04 |
1.00 |
rs4883264 |
chr12:7649653 |
c.855G>A |
Exon 5 |
0.36 |
0.73 |
rs4883263 |
chr12:7649484 |
c.1024G>A; p.Val342Ile |
Exon 5 |
0.12 |
0.57 |
rs7980201 |
chr12:7640589 |
c.1515G>A |
Exon 7 |
0.10 |
1.00 |
rs62622400 |
chr12:7640336 |
c.1735+33C>T |
Intron 7 |
0.06 |
1.00 |
rs76573683 |
chr12:7639054 |
c.2458+41A>C |
Intron 10 |
0.06 |
1.00 |
rs10743939 |
chr12:7638020 |
c.2459-8C>T |
Intron 10 |
0.30 |
1.00 |
rs61729512 |
chr12:7637769 |
c.2702C>T; p.Thr901Met |
Exon 11 |
0.14 |
1.00 |
rs6488340 |
chr12:7635793 |
c.3088+170C>T |
Intron 12 |
0.14 |
1.00 |
--- |
chr12:7633854 |
c.3248-2A>G |
Intron 15 |
0.02 |
1.00 |
rs12304718 |
chr12:7632376 |
c.*9+80A>G |
Intron 16 |
0.16 |
0.17 |
rs11054072 |
chr12:7623724 |
c.*279T>C |
Exon 17 |
0.34 |
0.82 |
|
a Position according to genome build 37. bReference sequences: NM_004244.5 and NP_004235.4. Abbreviations: MAF, minor allele frequency; HWE, Hardy-Weinberg
equilibrium. |
Table 2: CD163 sequence variations identified by direct sequencing in 25 severely obese individuals. |