Statistics
| Female Case | Female Control | % Female |
|---|---|---|
| 11590 | 238267 | 60% |
| Male Case | Male Control | % Male |
|---|---|---|
| 7582 | 202755 | 40% |
Phenotype Definition
An anomaly of venous function. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 512 | 15532 | 73.65 | 9.313e-18 | 0.6789 |
| chr15:48392165 | rs1834640 | - | A>G | 604 | 17553 | 68.32 | 1.392e-16 | 0.7084 |
| chr1:10833232 | rs58064215 | CASZ1 | G>C | 7977 | 153528 | 65.71 | 5.225e-16 | 1.12 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 315 | 10105 | 59.25 | 1.392e-14 | 0.6442 |
| chr6:26305407 | rs994379 | - | G>C | 10809 | 237405 | 57.86 | 2.816e-14 | 0.9043 |
| chr16:88783521 | Affx-13428745 | PIEZO1 | C>T | 2895 | 52663 | 55.44 | 9.633e-14 | 1.163 |
| chr8:10557760 | rs57041981 | RP1L1 | A>G | 289 | 9281 | 54.64 | 1.445e-13 | 0.6436 |
| chr16:88744470 | rs8048897 | SNAI3 | G>T | 2441 | 43897 | 54.19 | 1.821e-13 | 1.175 |
| chr2:235130071 | rs10177096 | - | A>G | 384 | 11565 | 52.7 | 3.878e-13 | 0.6856 |
| chr16:88792047 | Affx-13428879 | PIEZO1 | G>A | 3220 | 59346 | 51.12 | 8.699e-13 | 1.149 |
| chr9:137925543 | rs7027926 | - | G>A | 289 | 9143 | 50.9 | 9.721e-13 | 0.6533 |
| chr16:88776297 | rs4390574 | CTU2 | C>T | 3012 | 55286 | 50.58 | 1.146e-12 | 1.153 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 407 | 12012 | 49.79 | 1.71e-12 | 0.6999 |
| chr1:246364680 | rs12069319 | SMYD3 | G>T | 340 | 10367 | 49.72 | 1.771e-12 | 0.6777 |
| chr7:105656840 | rs4730125 | CDHR3 | G>T | 442 | 12844 | 49.42 | 2.064e-12 | 0.7106 |
| chr6:3665772 | rs9502040 | - | G>A | 316 | 9735 | 49.18 | 2.335e-12 | 0.6697 |
| chr6:26325888 | rs2179152 | - | C>T | 9304 | 182546 | 48.2 | 3.854e-12 | 1.098 |
| chr21:17639822 | rs183564 | - | C>T | 533 | 14958 | 47.93 | 4.424e-12 | 0.7353 |
| chr12:126849141 | rs12304312 | - | A>G | 226 | 7441 | 47.68 | 5.013e-12 | 0.6284 |
| chr9:127267689 | rs3814134 | NR5A1 | A>G | 573 | 15891 | 47.56 | 5.336e-12 | 0.744 |
| chr1:10833232 | rs58064215 | CASZ1 | G>C | 7361 | 136461 | 104.1 | 1.882e-24 | 1.159 |
| chr1:10831218 | rs172228 | CASZ1 | G>C | 3948 | 70927 | 79.95 | 3.846e-19 | 1.174 |
| chr16:88776297 | rs4390574 | CTU2 | C>T | 2851 | 51095 | 57.26 | 3.82e-14 | 1.168 |
| chr16:88783521 | Affx-13428745 | PIEZO1 | C>T | 2754 | 49448 | 53.6 | 2.46e-13 | 1.165 |
| chr1:10824329 | rs6540950 | CASZ1 | C>T | 4514 | 84062 | 51.62 | 6.746e-13 | 1.13 |
| chr6:26305407 | rs994379 | - | G>C | 10138 | 219444 | 48.16 | 3.931e-12 | 0.9102 |
| chr16:88792047 | Affx-13428879 | PIEZO1 | G>A | 3069 | 55952 | 47.83 | 4.649e-12 | 1.147 |
| chr16:88744470 | rs8048897 | SNAI3 | G>T | 2349 | 42088 | 46.46 | 9.332e-12 | 1.164 |
| chr16:88804734 | rs7184427 | PIEZO1 | G>A | 3767 | 69659 | 46.44 | 9.454e-12 | 1.133 |
| chr16:88787704 | rs8043924 | PIEZO1 | C>G | 3138 | 57429 | 46.06 | 1.144e-11 | 1.143 |
| chr16:88807896 | rs7404939 | PIEZO1 | G>A | 3101 | 56903 | 42.99 | 5.492e-11 | 1.139 |
| chr16:88808743 | Affx-13429237 | PIEZO1 | G>A | 3304 | 60981 | 42.49 | 7.118e-11 | 1.134 |
| chr16:88853729 | Affx-13430005 | - | T>C | 10743 | 210903 | 39.34 | 3.555e-10 | 1.088 |
| chr6:26325888 | rs2179152 | - | C>T | 9069 | 176802 | 39.04 | 4.148e-10 | 1.09 |
| chr16:88844433 | rs2968482 | PIEZO1 | T>C | 6460 | 141920 | 38.92 | 4.415e-10 | 0.9107 |
| chr6:26318903 | rs9467703 | - | G>A | 9044 | 176548 | 38.27 | 6.166e-10 | 1.089 |
| chr6:26200677 | rs806794 | - | A>G | 5954 | 130832 | 34.97 | 3.356e-09 | 0.9131 |
| chr6:26104448 | rs198852 | H4C3 | A>G | 8955 | 175174 | 33.73 | 6.322e-09 | 1.084 |
| chr2:68409037 | rs1868402 | AC017083.3 | A>G | 6252 | 137075 | 33.44 | 7.364e-09 | 0.9161 |
| chr2:68435280 | rs7572554 | AC017083.3 | T>C | 7527 | 163577 | 33.14 | 8.58e-09 | 0.9206 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:10833232 | rs58064215 | CASZ1 | G>C | 5295 | 130430 | 55.36 | 1.005e-13 | 1.136 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 277 | 11205 | 47.06 | 6.882e-12 | 0.6584 |
| chr9:140957557 | rs11137360 | CACNA1B | A>G | 209 | 8796 | 42.62 | 6.66e-11 | 0.6338 |
| chr16:88808743 | Affx-13429237 | PIEZO1 | G>A | 2283 | 54143 | 39.18 | 3.856e-10 | 1.155 |
| chr16:88807896 | rs7404939 | PIEZO1 | G>A | 2227 | 52935 | 36.53 | 1.501e-09 | 1.151 |
| chr15:48392165 | rs1834640 | - | A>G | 355 | 13112 | 36.42 | 1.594e-09 | 0.7212 |
| chr12:3417813 | rs729914 | - | G>T | 153 | 6669 | 36.28 | 1.708e-09 | 0.6126 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 180 | 7545 | 36.02 | 1.957e-09 | 0.6367 |
| chr16:88719980 | rs8046018 | MVD | G>T | 2324 | 55806 | 32.6 | 1.132e-08 | 1.14 |
| chr19:50013045 | rs2946863 | FCGRT | G>C | 1618 | 49765 | 32.52 | 1.18e-08 | 0.8591 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 204 | 8136 | 32.01 | 1.534e-08 | 0.6697 |
| chr16:88792047 | Affx-13428879 | PIEZO1 | G>A | 2130 | 50967 | 31.78 | 1.728e-08 | 1.143 |
| chr4:85360212 | rs1562148 | - | T>G | 253 | 9657 | 31.29 | 2.222e-08 | 0.6996 |
| chr17:58786625 | rs2643103 | BCAS3 | G>A | 205 | 8123 | 31.08 | 2.473e-08 | 0.6741 |
| chr16:88783449 | rs8057031 | PIEZO1 | G>C | 7391 | 189061 | 31.07 | 2.49e-08 | 1.094 |
| chr1:156869047 | rs12566888 | PEAR1 | G>T | 1481 | 45698 | 30.85 | 2.792e-08 | 0.8574 |
| chr16:1243194 | rs9926274 | CACNA1H | T>C | 107 | 4891 | 30.61 | 3.151e-08 | 0.585 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 154 | 6429 | 30.23 | 3.84e-08 | 0.6397 |
| chr8:10557760 | rs57041981 | RP1L1 | A>G | 169 | 6909 | 29.98 | 4.369e-08 | 0.6535 |
| chr3:128290848 | rs2713587 | - | A>G | 8031 | 206573 | 29.55 | 5.455e-08 | 1.092 |
| chr1:10833232 | rs58064215 | CASZ1 | G>C | 4833 | 115968 | 76.15 | 2.631e-18 | 1.168 |
| chr1:10831218 | rs172228 | CASZ1 | G>C | 2583 | 60566 | 50.33 | 1.297e-12 | 1.169 |
| chr16:88807896 | rs7404939 | PIEZO1 | G>A | 2047 | 47921 | 39.22 | 3.781e-10 | 1.164 |
| chr16:88808743 | Affx-13429237 | PIEZO1 | G>A | 2175 | 51414 | 36.38 | 1.621e-09 | 1.153 |
| chr1:10824329 | rs6540950 | CASZ1 | C>T | 2942 | 71179 | 34.76 | 3.728e-09 | 1.131 |
| chr16:88719980 | rs8046018 | MVD | G>T | 2235 | 53105 | 34.65 | 3.946e-09 | 1.147 |
| chr2:68385097 | rs2044693 | AC017083.3 | G>A | 5064 | 144565 | 32.59 | 1.138e-08 | 0.9048 |
| chr16:88783449 | rs8057031 | PIEZO1 | G>C | 7058 | 179531 | 30.81 | 2.845e-08 | 1.096 |
| chr16:88787704 | rs8043924 | PIEZO1 | C>G | 2061 | 49046 | 30.4 | 3.513e-08 | 1.143 |
| chr2:68457573 | rs12468533 | AC017083.3 | T>C | 4893 | 139494 | 30.18 | 3.939e-08 | 0.9074 |
| chr16:88792047 | Affx-13428879 | PIEZO1 | G>A | 2000 | 47627 | 29.66 | 5.155e-08 | 1.143 |
| chr2:68435280 | rs7572554 | AC017083.3 | T>C | 4892 | 139401 | 29.03 | 7.128e-08 | 0.9091 |
| chr16:88783521 | Affx-13428745 | PIEZO1 | C>T | 1779 | 42142 | 28.12 | 1.139e-07 | 1.146 |
| chr2:68409037 | rs1868402 | AC017083.3 | A>G | 4073 | 116979 | 28.04 | 1.191e-07 | 0.906 |
| chr16:88776297 | rs4390574 | CTU2 | C>T | 1830 | 43560 | 26.88 | 2.166e-07 | 1.141 |
| chr3:128290848 | rs2713587 | - | A>G | 7569 | 193939 | 26.68 | 2.398e-07 | 1.09 |
| chr5:127548955 | rs36694 | - | A>C | 4186 | 104431 | 26.14 | 3.181e-07 | 1.099 |
| chr16:88744470 | rs8048897 | SNAI3 | G>T | 1510 | 35497 | 26.14 | 3.176e-07 | 1.152 |
| chr16:88853729 | Affx-13430005 | - | T>C | 7015 | 179186 | 24.89 | 6.066e-07 | 1.086 |
| chr5:127552590 | rs2546147 | - | A>G | 4192 | 104879 | 24.38 | 7.9e-07 | 1.096 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: I839 | Varicose veins of lower extremities without ulcer or inflammation | 15/20 |