Table 3 Association between Structural Variants and Protein Levels
From: The biomedical landscape of genomic structural variation in the qatari population
Chrom | Start | End | Type | p-value | Gene | Protein | OMIM Phenotype | AF |
|---|---|---|---|---|---|---|---|---|
8 | 15,945,178 | 16,023,917 | DEL | 1.84E-24 | MSR1 | LGALS3BP | Barrett esophagus/esophageal adenocarcinoma (MIM# 614266) | 0.0065 |
19 | 43,828,001 | 43,834,000 | DUP | 2.93E-17 | CD177 | 0.0070 | ||
1 | 196,767,836 | 196,892,869 | DEL | 1.54E-15 | CFHR1/CFHR4 | HPX | Hemolytic uremic syndrome, atypical, susceptibility to (MIM# 235400) Macular degeneration, age-related, reduced risk of (MIM#603075) | 0.0043 |
1 | 30,569,458 | 30,965,368 | INV | 4.85E-14 | MICA | − | 0.0002 | |
3 | 142,647,748 | 142,648,549 | DEL | 9.49E-14 | LOC100507389 | ECE1 | − | 0.0053 |
3 | 53,690,870 | 53,691,283 | DEL | 3.20E-12 | CACNA1D | ACY1 | Primary aldosteronism, seizures, and neurologic abnormalities (MIM# 615474)/ Sinoatrial node dysfunction and deafness (MIM# 614896) | 0.0043 |
5 | 39,256,742 | 39,286,296 | INV | 4.35E-12 | C9/FYB1 | C9 | C9 deficiency (MIM# 613825/Macular degeneration, age-related, 15, susceptibility to),(MIM# 615591), Thrombocytopenia 3, (MIM# 273900) | 0.0015 |
6 | 26,997,235 | 26,997,825 | DEL | 1.05E-11 | LRPAP1 | − | 0.0093 | |
12 | 55,503,869 | 55,509,748 | DEL | 2.33E-11 | ERBB3 | − | 0.0022 | |
6 | 31,871,144 | 31,878,814 | DEL | 4.48E-11 | C2 | MICB | C2 deficiency (MIM# 217000)/ (Macular degeneration, age-related, 14, reduced risk of) (MIM# 615489) | 0.0077 |
16 | 67,216,750 | 67,216,801 | DEL | 5.60E-11 | KIAA0895L | KLK3 | − | 0.0002 |
3 | 73,724,969 | 73,730,058 | DEL | 5.60E-11 | KLK3 | − | 0.0002 | |
12 | 124,277,706 | 124,279,694 | DEL | 5.60E-11 | DNAH10 | KLK3 | − | 0.0003 |
1 | 154,445,794 | 154,448,090 | DUP | 5.60E-11 | KLK3 | − | 0.0002 | |
3 | 53,690,870 | 53,691,283 | DEL | 1.36E-10 | CACNA1D | LTF | Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)/ Sinoatrial node dysfunction and deafness, 614896 (3) | 0.0043 |
4 | 898,046 | 898,375 | DEL | 1.59E-10 | GAK | IDUA | − | 0.0033 |
12 | 55,910,303 | 55,910,433 | DEL | 1.86E-10 | ERBB3 | − | 0.0019 | |
6 | 29,756,928 | 29,756,983 | DEL | 2.15E-10 | LRPAP1 | − | 0.0088 | |
17 | 78,461,729 | 78,462,880 | DEL | 4.38E-10 | MICA | − | 0.0003 | |
10 | 53,203,677 | 53,214,222 | DEL | 4.53E-10 | PRKG1 | ASAH2 | Aortic aneurysm, familial thoracic 8, (MIM# 615436) | 0.0058 |
