Table 1.
Significant Genetic Associations with NT-proANP Concentrations in the Combined Cohort
| SNP | chromosome | position (bp) |
gene | gene type | variant location | genotyped or imputed |
R^2 imputation quality |
minor allele |
common allele |
MAF | fold change |
p-value |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs5063 | 1 | 11907648 | NPPA/NPPA-AS1 | protein-coding/miscRNA | missense/rna_exon | genotyped | NA | T | C | 0.052 | 0.629 | 1.14E-26 |
| rs141308438 | 1 | 11906469 | NPPA/NPPA-AS1 | protein-coding/miscRNA | intron/intron | imputed | 0.9983 | T | C | 0.052 | 0.630 | 2.03E-26 |
| rs3737965 | 1 | 11866451 | CLCN6 | protein-coding | intron | genotyped | NA | A | G | 0.052 | 0.632 | 3.67E-26 |
| rs75747410 | 1 | 11881727 | CLCN6 | protein-coding | intron | genotyped | NA | A | G | 0.053 | 0.633 | 4.21E-26 |
| rs77072136 | 1 | 11888061 | CLCN6 | protein-coding | intron | genotyped | NA | T | C | 0.053 | 0.633 | 4.21E-26 |
| rs41275484 | 1 | 11889225 | CLCN6 | protein-coding | intron | genotyped | NA | A | G | 0.053 | 0.633 | 4.21E-26 |
| rs79811212 | 1 | 11892094 | CLCN6 | protein-coding | intron | genotyped | NA | C | T | 0.053 | 0.633 | 4.21E-26 |
| rs41275500 | 1 | 11897082 | CLCN6 | protein-coding | synonymous | genotyped | NA | T | C | 0.053 | 0.633 | 4.21E-26 |
| rs7552330 | 1 | 11904092 | NPPA-AS1 | miscRNA | rna_exon | genotyped | NA | A | G | 0.053 | 0.633 | 4.21E-26 |
| rs3753586 | 1 | 11864262 | MTHFR | protein-coding | intron | imputed | 0.9994 | C | T | 0.052 | 0.633 | 8.85E-26 |
| rs3753585 | 1 | 11864378 | MTHFR | protein-coding | intron | imputed | 0.9994 | A | G | 0.052 | 0.633 | 8.86E-26 |
| rs17037397 | 1 | 11862163 | MTHFR | protein-coding | intron | genotyped | NA | A | C | 0.052 | 0.633 | 9.84E-26 |
| rs2272803 | 1 | 11898789 | CLCN6 | protein-coding | intron | genotyped | NA | T | G | 0.052 | 0.636 | 1.68E-25 |
| rs2076003 | 1 | 11884147 | CLCN6 | protein-coding | intron | genotyped | NA | C | T | 0.052 | 0.636 | 1.69E-25 |
| rs2075539 | 1 | 11897758 | CLCN6 | protein-coding | intron | genotyped | NA | A | G | 0.053 | 0.637 | 1.91E-25 |
| rs3737967 | 1 | 11847449 | MTHFR/LOC100506310 | protein-coding/protein-coding | 3'UTR/missense | imputed | 0.9984 | A | G | 0.051 | 0.639 | 3.48E-24 |
| rs2274976 | 1 | 11850927 | MTHFR | protein-coding | missense | genotyped | NA | T | C | 0.051 | 0.643 | 1.26E-23 |
| rs77012921 | 1 | 11929761 | LOC390997 | pseudo | 5'upstream | imputed | 1 | C | T | 0.043 | 0.626 | 2.22E-23 |
| rs75030554 | 1 | 11931445 | LOC390997 | pseudo | 5'upstream | genotyped | NA | T | C | 0.043 | 0.626 | 2.22E-23 |
| rs116525098 | 1 | 11931772 | LOC390997 | pseudo | 5'upstream | imputed | 0.9972 | T | C | 0.043 | 0.626 | 3.01E-23 |
| rs79712000 | 1 | 11924030 | NPPB | protein-coding | 5'upstream | genotyped | NA | C | T | 0.043 | 0.629 | 3.07E-23 |
| rs77003042 | 1 | 11926747 | NPPB | protein-coding | 5'upstream | imputed | 1 | G | T | 0.043 | 0.629 | 3.07E-23 |
| rs74714707 | 1 | 11926758 | NPPB | protein-coding | 5'upstream | genotyped | NA | T | C | 0.043 | 0.629 | 3.07E-23 |
| rs75540316 | 1 | 11926898 | NPPB | protein-coding | 5'upstream | genotyped | NA | T | G | 0.043 | 0.629 | 3.07E-23 |
| rs79653311 | 1 | 11927878 | NPPB | protein-coding | 5'upstream | genotyped | NA | C | T | 0.043 | 0.629 | 3.07E-23 |
| rs61757273 | 1 | 11909736 | NPPA | protein-coding | 5'upstream | genotyped | NA | T | G | 0.045 | 0.640 | 3.69E-22 |
| rs114941496 | 1 | 11826085 | LOC100506273 | unknown | rna_exon | genotyped | NA | A | G | 0.048 | 0.649 | 8.77E-22 |
| rs79837245 | 1 | 11932847 | LOC390997 | pseudo | 5'upstream | genotyped | NA | A | T | 0.047 | 0.648 | 2.35E-21 |
| rs113823536 | 1 | 11935715 | LOC390997 | pseudo | 5'upstream | imputed | 1 | G | T | 0.056 | 0.703 | 3.86E-17 |
| rs79593079 | 1 | 11936644 | LOC390997 | pseudo | 5'upstream | imputed | 0.9953 | T | C | 0.056 | 0.703 | 4.64E-17 |
| rs60600557 | 1 | 11935166 | LOC390997 | pseudo | 5'upstream | genotyped | NA | A | G | 0.056 | 0.705 | 6.24E-17 |
| rs78097221 | 1 | 11935443 | LOC390997 | pseudo | 5'upstream | imputed | 1 | A | C | 0.056 | 0.706 | 1.16E-16 |
| rs58120150 | 1 | 11925244 | NPPB | protein-coding | 5'upstream | genotyped | NA | C | T | 0.057 | 0.711 | 2.57E-16 |
| rs80177860 | 1 | 11934890 | LOC390997 | pseudo | 5'upstream | imputed | 0.9996 | C | G | 0.060 | 0.726 | 3.75E-15 |
| rs7545290 | 1 | 11934928 | LOC390997 | pseudo | 5'upstream | genotyped | NA | C | T | 0.061 | 0.728 | 4.08E-15 |
| rs11803049 | 1 | 11928895 | LOC390997 | pseudo | 5'upstream | genotyped | NA | A | G | 0.070 | 0.744 | 4.62E-15 |
| rs112521149 | 1 | 11889815 | CLCN6 | protein-coding | intron | imputed | 0.8924 | A | G | 0.108 | 0.783 | 1.60E-13 |
| rs148216773 | 1 | 11969569 | RNU5E-1 | snRNA | 3'downstream | imputed | 0.9433 | G | C | 0.061 | 0.766 | 3.17E-10 |