Top SNP associations for protein C at genome-wide significance level (P < 5.0 × 10−8 based on the GWA scan discovery set or discovery + replication sets)
| SNP . | Position . | Region . | Gene . | Function . | A1/A2 . | AFA1 . | GWA scan discovery . | Replication . | Imput . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| β/SE . | P . | Var% . | β/SE . | P . | ||||||||
| rs1260326 | 27584432 | 2p23 | GCKR | cns | C/T | 0.59 | 0.082/0.010 | 2.04 × 10−17 | 0.85 | 0.059/0.023 | .010 | 0.98 |
| rs1158867 | 127893824 | 2q13-q14 | PROC | intron | T/C | 0.58 | −0.123/0.010 | 3.77 × 10−36 | 1.94 | −0.154/ 0.023 | 7.83 × 10−11 | 0.94 |
| rs1799810 | 127892480 | 2q13-q14 | PROC | utr | A/T | 0.58 | −0.123/0.010 | 4.35 × 10−36 | 1.93 | −0.154/0.023 | 7.83 × 10−11 | 0.94 |
| rs8119351 | 33218064 | 20q11 | Interg | – | G/A | 0.90 | 0.480/0.015 | 2.68 × 10−203* | 10.9 | 0.492/0.035 | 3.42 × 10−41 | 0.99 |
| rs867186 | 33228208 | 20q11.2 | PROCR | cns | T/C | 0.90 | 0.468/0.015 | 2.00 × 10−200* | 10.4 | 0.491/0.035 | 3.02 × 10−41 | – |
| rs6120849 | 33194048 | 20q11.22 | EDEM2 | intron | C/T | 0.77 | −0.141/0.011 | 7.19 × 10−37† | 1.85 | −0.121/0.027 | 6.70 × 10−6 | – |
| rs17145713 | 72542746 | 7q11.23 | BAZ1B | intron | C/T | 0.80 | −0.062/0.012 | 2.50 × 10−7‡ | 0.33 | −0.079/0.029 | .007 | 0.99 |
| SNP . | Position . | Region . | Gene . | Function . | A1/A2 . | AFA1 . | GWA scan discovery . | Replication . | Imput . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| β/SE . | P . | Var% . | β/SE . | P . | ||||||||
| rs1260326 | 27584432 | 2p23 | GCKR | cns | C/T | 0.59 | 0.082/0.010 | 2.04 × 10−17 | 0.85 | 0.059/0.023 | .010 | 0.98 |
| rs1158867 | 127893824 | 2q13-q14 | PROC | intron | T/C | 0.58 | −0.123/0.010 | 3.77 × 10−36 | 1.94 | −0.154/ 0.023 | 7.83 × 10−11 | 0.94 |
| rs1799810 | 127892480 | 2q13-q14 | PROC | utr | A/T | 0.58 | −0.123/0.010 | 4.35 × 10−36 | 1.93 | −0.154/0.023 | 7.83 × 10−11 | 0.94 |
| rs8119351 | 33218064 | 20q11 | Interg | – | G/A | 0.90 | 0.480/0.015 | 2.68 × 10−203* | 10.9 | 0.492/0.035 | 3.42 × 10−41 | 0.99 |
| rs867186 | 33228208 | 20q11.2 | PROCR | cns | T/C | 0.90 | 0.468/0.015 | 2.00 × 10−200* | 10.4 | 0.491/0.035 | 3.02 × 10−41 | – |
| rs6120849 | 33194048 | 20q11.22 | EDEM2 | intron | C/T | 0.77 | −0.141/0.011 | 7.19 × 10−37† | 1.85 | −0.121/0.027 | 6.70 × 10−6 | – |
| rs17145713 | 72542746 | 7q11.23 | BAZ1B | intron | C/T | 0.80 | −0.062/0.012 | 2.50 × 10−7‡ | 0.33 | −0.079/0.029 | .007 | 0.99 |
A1 indicates allele 1 (major allele); A2, allele 2 (minor allele); AFA1, allele frequency for A1; β, change in protein C level per 1-allele increase in the minor allele for both GWA scan and replication analyses; SE, standard error; Var%, percentage of variance explained by the SNP; imput, ratio of observed to expected variance as a measure of imputation quality (– for genotyped SNPs); cns, coding-nonsynonymous; utr, within an exon but not translated; and interg, intergenic.
r2 = 1.0 between rs8119351 and rs867186 in HapMap Ceu.
P = 5.23 × 10−17 after adjustment for rs867186, r2 = 0.022 for both rs6120849-rs8119351 and rs6120849-rs867186 in HapMap-Ceu.
P = 2.83 × 10−8 in the pooled GWA scan of discovery and replication sets.