Table 2.
Showing genewise frequencies of polymorphisms identified with gender stratification (Note−390 variants in MUC2B gene were identified in our cohort, functionally relevant nine are mentioned here, full data can be accessed from Supplementary Data).
| rs Number | Frequency | Male | Female | Protein change | TOPMED | 1000G |
|---|---|---|---|---|---|---|
| ACE2 | ||||||
| rs4646153 | 1 | 1 | 0 | IntronNM_021804.2c.1071-1397G>A | 0.6138 | |
| rs113691336 | 4 | 2 | 2 | IntronNM_021804.2c.1297+68_1297+69insCTTAT: | 0.74378 | |
| rs4646158 | 4 | 1 | 3 | IntronNM_021804.2c.1297+68_1297+69insCTTAT | 0.8 | |
| rs4646165 | 1 | 1 | 0 | IntronNM_021804.2c.1443-132G>A- | 0.02077 | |
| rs11340646 | 1 | 1 | 0 | IntronNM_021804.2c.1443-97delA- | 0.0016 | |
| rs4646171 | 1 | 0 | 1 | IntronNM_021804.2c.1838-552A>G- | 0.048906 | 0.0702 |
| rs4646127 | 1 | 1 | 0 | IntronNM_021804.2c.187-2327T>C- | 0.716751 | 0.8093 |
| rs4646174 | 4 | 3 | 1 | IntronNM_021804.2c.1896+147G>C- | 0.616057 | 0.4941 |
| rs111691073 | 1 | 1 | 0 | IntronNM_021804.2c.1997+520_1997+527delGGAGAGAG- | 0.9717 | |
| rs233575 | 2 | 0 | 2 | IntronNM_021804.2c.2115-625C>T- | 0.8633 | 0.7804 |
| rs971249 | 4 | 3 | 1 | IntronNM_021804.2c.584-71A>G- | 0.707879 | 0.6437 |
| rs2048683 | 1 | 0 | 1 | IntronNM_021804.2c.584-920A>C- | 0.707927 | 0.6385 |
| rs4646147 | 1 | 1 | 0 | IntronNM_021804.2c.901-1231A>T- | 0.6146 | 0.8281 |
| RS4646148 | 1 | 0 | 1 | IntronNM_021804.2c.901-380_901-379insTTAA- | 0.8283 | |
| rs2048684 | 1 | 1 | 0 | IntronNM_021804.2c.901-702T>G- | 0.744155 | 0.8283 |
| rs4646116 | 1 | 0 | 1 | MissenseNM_021804.2c.77A>Gp.(Lys26Arg)Exon: 2/19 | 0.0021 | 0.0046 |
| rs773676270 | 1 | 1 | 0 | NM_021804.2c.1164A>Gc.1164A>G(p.(Gln388=))Exon: 10/19 | 0.0003 | 0.000016 |
| rs2285666 | 9 | 5 | 4 | Splice regionIntronNM_021804.2c.439+4G>A | 0.250295 | 0.3502 |
| TMPRSS2 | ||||||
| rs12627374 | 1 | 1 | 0 | 3-prime UTRNM_001135099.1c.*378G>AExon: 14/14 | 0.012065 | 0.059105 |
| rs8128997 | 1 | 1 | 0 | Downstream geneNM_001135099.1 | 0.225838 | 0.251398 |
| rs460751 | 1 | 1 | 0 | Downstream geneNM_001135099.1 | 0.10353 | 0.174321 |
| rs397756998 | 1 | 0 | 1 | IntronNM_001135099.1c.1186+291dupG | 0.10353 | 0.174321 |
| rs456016 | 1 | 0 | 1 | IntronNM_001135099.1c.1187-279A>G | 0.054751 | 0.125799 |
| rs2070787 | 1 | 1 | 0 | IntronNM_001135099.1c.1282+446A>C | 0.307961 | 0.293131 |
| rs9974589 | 1 | 1 | 0 | IntronNM_001135099.1c.1282+452T>G | 0.41055 | 0.396166 |
| rs2070788 | 1 | 0 | 1 | IntronNM_001135099.1c.1282+587C>T | 0.41032 | 0.396765 |
| rs61459778 | 1 | 1 | 0 | IntronNM_001135099.1c.1579-343G>C | 0.156975 | 0.136382 |
| rs73905370 | 1 | 1 | 0 | IntronNM_001135099.1c.1579-58T>A | 0.098146 | 0.078474 |
| rs386638 | 1 | 0 | 1 | IntronNM_001135099.1c.349+1236G>A | 0.071865 | 0.15595 |
| rs2838040 | 1 | 1 | 0 | IntronNM_001135099.1c.349+1591T>C | 0.328882 | 0.330871 |
| rs7275220 | 1 | 1 | 0 | IntronNM_001135099.1c.349+959C>T | 0.47085 | |
| rs10154090 | 1 | 0 | 1 | IntronNM_001135099.1c.350-2203A>T | 0.302657 | 0.298123 |
| rs555995855 | 1 | 1 | 0 | IntronNM_001135099.1c.437-80A>G | 0.000096 | 0.011581 |
| rs573736906 | 1 | 1 | 0 | IntronNM_001135099.1c.55+189C>T | 0.000096 | 0.004792 |
| rs7277080 | 1 | 1 | 0 | IntronNM_001135099.1c.55+3477G>A | 0.331478 | 0.230232 |
| rs112467088 | 1 | 0 | 1 | IntronNM_001135099.1c.55+474T>A | 0.277165 | 0.185703 |
| rs398061769 | 1 | 1 | 0 | IntronNM_001135099.1c.556+1040_556+1041delCT | ||
| rs383510 | 1 | 1 | 0 | IntronNM_001135099.1c.556+1954A>G | ||
| rs62217531 | 1 | 1 | 0 | IntronNM_001135099.1c.556+2420G>A | 0.393986 | 0.297923 |
| rs381179 | 1 | 0 | 1 | IntronNM_001135099.1c.556+2679A>G | 0.000327 | 0.000998 |
| rs11701576 | 1 | 1 | 0 | IntronNM_001135099.1c.56-146T>C | 0.099938 | 0.16234 |
| rs9974995 | 1 | 1 | 0 | IntronNM_001135099.1c.794+188G>A | 0.261133 | 0.260982 |
| rs8131648 | 1 | 1 | 0 | IntronNM_001135099.1c.795-587A>G | 0.34899 | 0.444688 |
| rs8131649 | 1 | 1 | 0 | IntronNM_001135099.1c.795-590A>G: | 0.36706 | 0.464257 |
| rs8134203 | 1 | 1 | 0 | IntronNM_001135099.1c.795-695G>A | 0.36706 | 0.464257 |
| rs8134203 | 1 | 0 | 1 | IntronNM_001135099.1c.795-695G>A | 0.375701 | 0.47504 |
| rs2298663 | 1 | 0 | 1 | IntronNM_001135099.1c.838+317G>A | 0.053182 | 0.123403 |
| rs2298662 | 1 | 0 | 1 | IntronNM_001135099.1c.838+389C>G | 0.009939 | 0.004792 |
| rs61735792 | 1 | 1 | 0 | SynonymousNM_001135099.1c.300C>Tc.300C>T(p.(Pro100=)) Exon: 3/14 |
0.453563 | 0.422724 |
| rs9981563 | 1 | 0 | 1 | Upstream geneNM_001135099.1 | 0.453595 | 0.422923/ |
| rs 9981570 | 1 | 0 | 1 | Upstream geneNM_001135099.1 | 0.453579 | 0.422724 |
| rs9981099 | 1 | 0 | 1 | Upstream geneNM_001135099.1 | ||
| rs397704299 | 1 | 0 | 1 | Upstream geneNM_001135099.1 | ||
| rs28707508 | 1 | 0 | 1 | Upstream geneNM_001135099.1 | 0.000111 | 0.000998 |
| rs460904 | 2 | 2 | 0 | Downstream geneNM_001135099.1 | 0.052824 | 0.121605 |
| rs455922 | 2 | 1 | 1 | IntronNM_001135099.1c.1187-164A>G | 0.052601 | 0.121406 |
| rs462448 | 2 | 0 | 2 | IntronNM_001135099.1c.1283-407A>G | 0.098465 | 0.149361 |
| rs743542 | 2 | 1 | 1 | IntronNM_001135099.1c.1425+151C>T | 0.003106 | 0.00639 |
| rs457909 | 2 | 1 | 1 | IntronNM_001135099.1c.1578+465C>T | 0.091584 | 0.06849 |
| rs3819138 | 2 | 1 | 1 | IntronNM_001135099.1c.437-54G>C | 0.627572 | 0.555112 |
| rs56097233 | 2 | 1 | 1 | IntronNM_001135099.1c.556+1040_556+1041delCT | 0.371862 | 0.444888 |
| rs365724 | 2 | 2 | 0 | IntronNM_001135099.1c.556+1099C>G | 0.368486 | 0.441294 |
| rs365025 | 2 | 1 | 1 | IntronNM_001135099.1c.556+1254C>G | 0.058311 | 0.127796 |
| rs2156300 | 2 | 1 | 1 | IntronNM_001135099.1c.556+3565C>T | 0.380368 | 0.301917 |
| rs4818239 | 2 | 1 | 1 | IntronNM_001135099.1c.794+1024A>G | 0.26146 | 0.261182 |
| rs9636988 | 2 | 1 | 1 | IntronNM_001135099.1c.794+1054A>G | 0.307093 | 0.334665 |
| rs9985159 | 2 | 1 | 1 | IntronNM_001135099.1c.795-137G>A | 0.370381 | 0.470248 |
| rs2094881 | 2 | 1 | 1 | IntronNM_001135099.1c.795-288A>G | 0.231691 | 0.267772 |
| rs2298661 | 2 | 1 | 1 | IntronNM_001135099.1c.839-219G>T | 0.095287 | 0.165735 |
| rs465576 | 2 | 1 | 1 | NM_001135099.1c.1187-184G>T | 0.000008 | 0.001597 |
| rs542471574 | 2 | 1 | 1 | No overlapping canonical transcript | 0.348942 | 0.241014 |
| rs8127674 | 2 | 0 | 2 | Upstream geneNM_001135099.1 | 0.345191 | 0.238419 |
| rs8129192 | 2 | 0 | 2 | Upstream geneNM_001135099.1 | 0.110578 | 0.126398 |
| rs4283504 | 2 | 1 | 1 | Upstream geneNM_001135099.1 | 0.306121 | 0.222644 |
| rs467375 | 3 | 2 | 1 | IntronNM_001135099.1c.1186+168C>T | 0.82987 | |
| rs112132031 | 3 | 1 | 2 | IntronNM_001135099.1c.1187-44_1187-43insCCCGAGGCCTTAG | 0.213088 | 0.233427 |
| rs2838042 | 3 | 3 | 0 | IntronNM_001135099.1c.349+176A>G | 0.265888 | 0.279553 |
| rs429442 | 3 | 3 | 0 | IntronNM_001135099.1c.436+102G>A | 0.261356 | 0.261581 |
| rs9974933 | 3 | 3 | 0 | IntronNM_001135099.1c.794+122T>C | 0.261436 | 0.26238 |
| rs9975014 | 3 | 3 | 0 | IntronNM_001135099.1c.794+93T>C | 0.453571 | 0.422724 |
| rs8133719 | 3 | 2 | 1 | Upstream geneNM_001135099.1 | 0.308988 | 0.22524 |
| rs458213 | 4 | 3 | 1 | IntronNM_001135099.1c.1011-54A>T | 0.302776 | 0.287141 |
| rs28524972 | 4 | 4 | 0 | IntronNM_001135099.1c.1187-101G>C | 0.314961 | 0.426917 |
| rs462326 | 4 | 3 | 1 | IntronNM_001135099.1c.1283-130C>G | 0.310621 | 0.307109 |
| rs3787947 | 4 | 2 | 2 | IntronNM_001135099.1c.437-153G>A | 0.123893 | 0.162939 |
| rs3787950 | 4 | 3 | 1 | SynonymousNM_001135099.1c.336A>Gc.336A>G(p.(Thr112=)) Exon: 3/14 |
0.052808 | 0.121406 |
| rs458280 | 5 | 3 | 2 | IntronNM_001135099.1c.1011-144A>C | 0.36847 | 0.284545 |
| rs734056 | 5 | 3 | 2 | IntronNM_001135099.1c.683+83G>T | 0.351634 | 0.24381 |
| rs75603675 | 5 | 3 | 2 | MissenseNM_001135099.1c.23G>Tp.(Gly8Val)Exon: 1/14 | 0.246982 | 0.261382 |
| rs12329760 | 5 | 2 | 3 | MissenseNM_001135099.1c.589G>Ap.(Val197Met)Exon: 6/14 | 0.374594 | 0.444888 |
| rs386416 | 8 | 5 | 3 | IntronNM_001135099.1c.437-45C>G | 0.461567 | 0.366214 |
| rs17854725 | 8 | 7 | 1 | SynonymousNM_001135099.1c.879T>Cc.879T>C(p.(Ile293=)) Exon: 9/14 |
||
| rs17854725 | 8 | 5 | 3 | SynonymousNM_001135099.1c.879T>Cc.879T>C(p.(Ile293=)) Exon: 9/14 |
0.211089 | 0.209465 |
| rs2298659 | 8 | 5 | 3 | SynonymousNM_001135099.1c.888C>Tc.888C>T(p.(Gly296=)) Exon: 9/14 |
0.82987 | |
| rs112132031 | 9 | 5 | 4 | IntronNM_001135099.1c.1187-44_1187-43insCCCGAGGCCTTAG | 0.054839 | 0.126198 |
| rs464431 | 10 | 7 | 3 | IntronNM_001135099.1c.1011-52T>C | 0.375104 | 0.445288 |
| rs422471 | 14 | 8 | 6 | IntronNM_001135099.1c.556+14G>A | 0.121966 | 0.186701 |
| rs140530035 | 18 | 9 | 9 | IntronNM_001135099.1c.795-15_795-14delCT | ||
| CD209 | ||||||
| rs2287886 | 28 | 13 | 15 | Upstream geneNM_021155.3 | 0.348114 | 0.412939 |
| rs1544766 | 26 | 12 | 14 | 3-prime UTRNM_021155.3c.*1202C>TExon: 7/7 | 0.076899 | 0.141973 |
| rs4804800 | 24 | 13 | 11 | 3-prime UTRNM_021155.3c.*2797C>TExon: 7/7 | 0.20158 | 0.223243 |
| rs11260028 | 18 | 9 | 9 | 3-prime UTRNM_021155.3c.*1706T>CExon: 7/7 | 0.075162 | 0.139377 |
| rs4804801 | 17 | 7 | 10 | 3-prime UTRNM_021155.3c.*443A>TExon: 7/7 | 0.245851 | 0.328874 |
| rs4804802 | 15 | 7 | 8 | 3-prime UTRNM_021155.3c.*315T>CExon: 7/7 | 0.18668 | 0.216254 |
| rs11260027 | 14 | 5 | 9 | Downstream geneNM_021155.3 | 0.498503 | 0.468251 |
| rs12460694 | 13 | 6 | 7 | 3-prime UTRNM_021155.3c.*1670C>TExon: 7/7 | 0.024656 | 0.091254 |
| rs11465427 | 12 | 5 | 7 | Downstream geneNM_021155.3 | 0.499753 | 0.469649 |
| rs7248637 | 12 | 8 | 4 | 3-prime UTRNM_021155.3c.*898T>CExon: 7/7 | 0.196611 | 0.232428 |
| rs7252229 | 10 | 5 | 5 | IntronNM_021155.3c.106+11C>G | 0.215334 | 0.198882 |
| rs11465413 | 10 | 5 | 5 | 3-prime UTRNM_021155.3c.*1974T>AExon: 7/7 | 0.188265 | 0.219249 |
| rs11465406 | 10 | 3 | 7 | 3-prime UTRNM_021155.3c.*1695delGExon: 7/7 | 0.809036 | 0.747404 |
| rs11465391 | 9 | 4 | 5 | IntronNM_021155.3c.1014-37C>G | 0.161052 | 0.147165 |
| rs6603119 | 8 | 3 | 5 | 3-prime UTRNM_021155.3c.*722A>GExon: 7/7 | 0.352908 | 0.425319 |
| rs11465421 | 8 | 4 | 4 | 3-prime UTRNM_021155.3c.*2629C>AExon: 7/7 | 0.486278 | 0.47484 |
| rs11465410 | 7 | 4 | 3 | 3-prime UTRNM_021155.3c.*1846A>GExon: 7/7 | 0.07615 | 0.102236 |
| rs11465409 | 7 | 4 | 3 | 3-prime UTRNM_021155.3c.*1839C>TExon: 7/7 | 0.077575 | 0.104034 |
| rs11465408 | 7 | 4 | 3 | 3-prime UTRNM_021155.3c.*1771C>TExon: 7/7 | 0.075107 | 0.101837 |
| rs7248772 | 6 | 4 | 2 | 3-prime UTRNM_021155.3c.*754T>CExon: 7/7 | 0.33753 | 0.394369 |
| rs11465411 | 6 | 4 | 2 | 3-prime UTRNM_021155.3c.*1848T>CExon: 7/7 | 0.076269 | 0.102236 |
| rs76638576 | 4 | 4 | 0 | Upstream geneNM_021155.3 | 0.069644 | 0.055312 |
| rs8105572 | 4 | 0 | 4 | IntronNM_021155.3c.901-222G>A | 0.15367 | 0.141374 |
| rs8105483 | 4 | 0 | 4 | IntronNM_021155.3c.901-178G>C | 0.153733 | 0.142173 |
| rs11465384 | 3 | 0 | 3 | IntronNM_021155.3c.749-28C>T | 0.059402 | 0.031949 |
| rs11465371 | 3 | 1 | 2 | IntronNM_021155.3c.106+246G>T | 0.03574 | |
| rs34472423 | 3 | 1 | 3 | Downstream geneNM_021155.3 | 0.694667 | 0.665335 |
| rs7254342 | 3 | 1 | 2 | Downstream geneNM_021155.3 | 0.241104 | 0.253395 |
| rs1291625799 | 3 | 1 | 2 | missense p.Gln191Leu | ||
| rs4804803 | 2 | 0 | 2 | Upstream geneNM_021155.3 | 0.255511 | 0.233427 |
| rs78866372 | 2 | 2 | 0 | SynonymousNM_021155.3c.993C>Tc.993C>T(p.(Asp331=)) Exon: 6/7 |
0.007175 | 0.004393 |
| rs553008652 | 2 | 0 | 2 | SynonymousNM_021155.3c.1098C>Tc.1098C>T(p.(Asp366=)) Exon: 7/7 |
0.000048 | 0.000399 |
| rs17438280 | 2 | 0 | 2 | Intron | 0.070607 | 0.064497 |
| rs4045399 | 2 | 1 | 1 | Downstream geneNM_021155.3 | 0.694667 | 0.665335 |
| rs796471429 | 2 | 1 | 1 | Downstream geneNM_021155.3 | ||
| rs7248227 | 2 | 2 | 0 | Downstream geneNM_021155.3 | 0.464402 | 0.435903 |
| rs1981837 | 2 | 1 | 1 | Downstream geneNM_021155.3 | 0.305181 | 0.334665 |
| rs11465397 | 2 | 0 | 2 | 3-prime UTRNM_021155.3c.*675C>TExon: 7/7 | 0.129523 | 0.100839 |
| rs544874106 | 2 | 1 | 1 | 3-prime UTRNM_021155.3c.*625C>TExon: 7/7 | 0.000056 | 0.000399 |
| rs56062941 | 1 | 0 | 1 | Upstream geneNM_198492.3 | 0.28962 | 0.336462 |
| rs796136624 | 1 | 0 | 1 | Upstream geneNM_198492.3 | ||
| rs12610438 | 1 | 0 | 1 | Upstream geneNM_198492.3 | 0.259963 | 0.311901 |
| rs11881682 | 1 | 0 | 1 | Upstream geneNM_021155.3 | 0.172393 | 0.147764 |
| rs565809638 | 1 | 1 | 0 | IntronNM_021155.3c.900+91G>T | 0.000056 | 0.004792 |
| rs56341602 | 1 | 0 | 1 | Downstream geneNM_021155.3 | 0.6847 | |
| rs7258175 | 1 | 0 | 1 | Downstream geneNM_021155.3 | 0.464537 | 0.435903 |
| rs183145639 | 1 | 1 | 0 | Downstream geneNM_021155.3 | 0.003241 | 0.001997 |
| rs11465396 | 1 | 0 | 1 | 3-prime UTRNM_021155.3c.*467T>CExon: 7/7 | 0.045067 | 0.031949 |
| rs879074669 | 1 | 1 | 0 | 3-prime UTRNM_021155.3c.*2523G>AExon: 7/7 | ||
| rs141131967 | 1 | 1 | 0 | missense p.Arg154Gly | 0.004393 | |
| IFITM3 | ||||||
| rs3888188 | 5 | 3 | 2 | Upstream gene NM_021034.2 | ||
| rs61876247 | 5 | 5 | 0 | Upstream gene NM_021034.2 | ||
| rs61876248 | 6 | 6 | 0 | Upstream gene NM_021034.2 | ||
| rs28447048 | 7 | 6 | 1 | Upstream gene NM_021034.2 | ||
| rs56232455 | 3 | 1 | 2 | Upstream gene NM_021034.2 | 0.17073 | |
| rs7479267 | 20 | 11 | 9 | Upstream gene NM_021034.2 | 0.47125 | |
| rs71452596 | 19 | 9 | 10 | Upstream gene NM_021034.2 | 0.479 | |
| rs7478728 | 18 | 9 | 9 | Upstream gene NM_021034.2 | 0.47903 | |
| rs10902122 | 12 | 7 | 5 | Upstream gene NM_021034.2 | 0.0573 | |
| rs55809726 | 9 | 6 | 3 | Upstream gene NM_021034.2 | 0.32248 | |
| rs77263314 | 7 | 5 | 2 | Upstream gene NM_021034.2 | 0.32248 | |
| rs11821786 | 7 | 5 | 2 | Upstream gene NM_021034.2 | 0.32248 | |
| rs11246066 | 2 | 2 | 0 | Upstream gene NM_021034.2 | 0.209639 | 0.252995 |
| rs7931303 | 4 | 4 | 0 | Upstream gene NM_021034.2 | 0.494537 | 0.423722 |
| rs6598043 | 1 | 1 | 0 | Upstream gene NM_021034.2 | 0.492379 | 0.42512 |
| rs6598042 | 1 | 1 | 0 | Upstream gene NM_021034.2 | 0.295561 | 0.170727 |
| rs6598045 | 10 | 5 | 5 | Upstream gene NM_021034.2 | 0.21346 | |
| rs11828350 | 5 | 4 | 1 | Upstream gene NM_021034.2 | 0.3115 | |
| rs10794307 | 1 | 0 | 1 | Upstream gene NM_021034.2 | 0.487099 | 0.441693 |
| rs112701542 | 1 | 0 | 1 | Upstream gene NM_021034.2 | 0.07971 | 0.053514 |
| rs9666598 | 4 | 4 | 0 | Upstream gene NM_021034.2 | 0.144878 | 0.116214 |
| rs7948108 | 1 | 0 | 1 | Upstream gene NM_021034.2 | 0.441936 | 0.398762 |
| rs60016595 | 2 | 2 | 0 | Upstream gene NM_021034.2 | 0.42851 | |
| rs3215389 | 5 | 2 | 3 | Upstream gene NM_021034.2 | ||
| rs56228238 | 3 | 3 | 0 | Upstream gene NM_021034.2 | ||
| rs55671406 | 2 | 1 | 1 | Upstream gene NM_021034.2 | ||
| rs35218683 | 4 | 2 | 2 | Upstream gene NM_021034.2 | ||
| rs28602580 | 2 | 1 | 1 | Upstream gene NM_021034.2 | ||
| rs35409983 | 3 | 2 | 1 | Upstream gene NM_021034.2 | ||
| rs9666637 | 1 | 0 | 1 | Upstream gene NM_021034.2 | 0.202918 | 0.29393 |
| rs7478728 | 1 | 0 | 1 | Upstream gene NM_021034.2 | 0.47903 | |
| rs9666295 | 1 | 1 | 0 | Upstream gene NM_021034.2 | 0.093933 | 0.0623 |
| rs77776420 | 1 | 1 | 0 | Upstream gene NM_021034.2 | ||
| rs116991140 | 1 | 1 | 0 | Upstream gene NM_021034.2 | 0.028224 | 0.019169 |
| rs12252 | 12 | 10 | 2 | Synonymous NM_021034.2 c.42T>C c.42T>C(p.(Ser14=)) Exon: 1/2 |
0.155223 | 0.236422 |
| rs11553885 | 8 | 6 | 2 | Synonymous NM_021034.2 c.165C>T c.165C>T(p.(Pro55=)) Exon: 1/2 | 0.000064 | |
| rs1136853 | 7 | 5 | 2 | Missense NM_021034.2 c.9C>A p.(His3Gln) Exon: 1/2 | 0.041882 | 0.039337 |
| rs199749095 | 9 | 5 | 4 | Missense NM_021034.2 c.208C>A p.(Pro70Thr) Exon: 1/2 | 0.000008 | |
| rs28688930 | 34 | 21 | 16 | Intron NM_021034.2 c.250-247G>C | 0.101793 | |
| rs28655829 | 37 | 23 | 14 | Intron NM_021034.2 c.250-176A>G | 0.082593 | 0.058107 |
| rs3835195 | 37 | 22 | 15 | Intron NM_021034.2 c.250-125C>T | 0.109558 | 0.083067 |
| rs746767660 | 3 | 3 | 0 | Intron NM_021034.2 c.249+174_249+175delTG | 0.000295 | |
| rs6421983 | 14 | 7 | 7 | Intron NM_021034.2 c.249+171G>A | 0.309673 | 0.164936 |
| rs77612739 | 1 | 0 | 1 | Downstream gene NM_021034.2, Downstream gene NM_003641.3 | 0.087817 | 0.071286 |
| rs9666182 | 1 | 1 | 0 | Downstream gene NM_021034.2, Downstream gene NM_003641.3 | 0.207712 | 0.134784 |
| rs7938456 | 1 | 1 | 0 | Downstream gene NM_021034.2, Downstream gene NM_003641.3 | 0.489862 | 0.488818 |
| rs12421894 | 1 | 1 | 0 | Downstream gene NM_021034.2, Downstream gene NM_003641.3 | 0.089513 | 0.072284 |
| rs7947900 | 1 | 1 | 0 | Downstream gene NM_021034.2, Downstream gene NM_003641.3 | 0.306153 | 0.160743 |
| rs34481144 | 23 | 12 | 11 | 5-prime UTR NM_021034.2 c.-23G>A Exon: 1/2 | 0.309768 | 0.178115 |
| MUC5B | ||||||
| rs2672794 | 1 | 1 | 0 | Upstream geneNM_002458.2 | 0.311035 | 0.313299 |
| rs56235854 | 2 | 1 | 1 | Upstream geneNM_002458.2 | 0.042662 | 0.03734 |
| rs7115457 | 3 | 1 | 2 | Upstream geneNM_002458.2 | 0.130543 | 0.190895 |
| rs2735727 | 12 | 5 | 7 | IntronNM_002458.2c.2881-157G>A | 0.423364 | 0.457867 |
| rs12417955 | 4 | 2 | 2 | Downstream geneNM_002458.2 | 0.459767 | 0.428514 |
| rs56367042 | 3 | 2 | 1 | Downstream geneNM_002458.2 | 0.051876 | 0.052915 |
| rs2735733 | 31 | 17 | 14 | IntronNM_002458.2c.3970+35C>T | 0.428007 | 0.461861 |
| rs2249073 | 26 | 14 | 12 | IntronNM_002458.2c.15045+79T>C | 0.478139 | 0.454073 |
| rs2857476 | 28 | 18 | 10 | IntronNM_002458.2c.16801-59T>C | 0.455227 | 0.422724 |