Table 3 |
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|
Fifteen coding variants with functionally characterized SNPs crossing the threshold (P < 10-6) for association with C3 scores |
||||||||||||
|
Gene |
Marker |
Chromosome |
Chromosome position |
Amino acid position |
Amino acid change |
Correlation/trend P |
Correlation/trend R |
Minor allele |
AJ frequency |
CEU frequency |
TSI frequency |
GIH frequency |
|
|
||||||||||||
|
CFTR |
rs213950 |
7 |
116986769 |
1408 |
V | M |
2.29E-08 |
-0.155 |
A |
0.287 |
0.487 |
0.347 |
0.489 |
|
ABCB1 |
rs1045642 |
7 |
86976581 |
3435 |
4.95E-11 |
-0.183 |
A |
0.367 |
0.571 |
0.466 |
0.597 |
|
|
GSTP1 |
rs1138272 |
11 |
67110155 |
341 |
A | V |
4.74E-08 |
-0.152 |
T |
0.046 |
0.097 |
0.062 |
0.091 |
|
MTHFR |
rs1801133 |
1 |
11778965 |
665 |
A | V |
6.70E-10 |
0.172 |
A |
0.435 |
0.31 |
0.46 |
0.17 |
|
PPARG |
rs1801282 |
3 |
12368125 |
34 |
P | A |
3.21E-09 |
-0.165 |
G |
0.058 |
0.097 |
0.074 |
0.091 |
|
MC1R |
rs1805005 |
16 |
88513345 |
178 |
V | L |
4.80E-16 |
0.227 |
T |
0.266 |
0.006 |
0.159 |
0.006 |
|
PLAU |
rs2227564 |
10 |
75343107 |
422 |
L | P |
4.82E-08 |
-0.152 |
T |
0.107 |
0.239 |
0.188 |
0.369 |
|
PER1 |
rs2253820 |
17 |
7988894 |
2361 |
1.22E-11 |
0.188 |
T |
0.378 |
0.185 |
0.165 |
0.222 |
|
|
ALF1 |
rs2269475 |
6 |
31691910 |
43 |
R | W |
2.70E-08 |
-0.155 |
T |
0.039 |
0.159 |
0.091 |
0.097 |
|
HLA-DRA |
rs3135391 |
6 |
32518965 |
402 |
8.47E-10 |
-0.171 |
A |
0.034 |
0.19 |
0.08 |
0.017 |
|
|
SH2B3 |
rs3184504 |
12 |
110368991 |
784 |
W | R |
1.36E-10 |
-0.179 |
C |
0.365 |
0.555 |
0.472 |
0.869 |
|
DKK3 |
rs3206824 |
11 |
11942637 |
1003 |
R | G |
1.44E-08 |
-0.158 |
T |
0.128 |
0.243 |
0.165 |
0.148 |
|
LCT |
rs3754689 |
2 |
136307216 |
655 |
V | I |
1.05E-09 |
0.17 |
T |
0.466 |
0.102 |
0.402 |
0.29 |
|
PPARGC1A |
rs3755863 |
4 |
23424620 |
1584 |
4.99E-08 |
0.052 |
T |
0.473 |
0.412 |
0.511 |
0.398 |
|
|
NOD2 |
rs2067085 |
16 |
49291359 |
639 |
9.54E-08 |
0.151 |
G |
0.536 |
0.381 |
0.455 |
0.207 |
|
|
|
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|
AJ, Ashkenazi Jew; CEU, Northern Europe; GIH, Gujarat India; TSI, Southern Europe Tuscan. |
||||||||||||
|
Guha et al. Genome Biology 2012 13:R2 doi:10.1186/gb-2012-13-1-r2 |
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