IL18 variants in ExAC

IL18 gene summary
IL18 variants in

The table below lists the IL18 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 112024331 c.80-5C>A splice site 0.00085989●●●●●●
2. 112025712 c.65C>T p.T22M missense 0.00058028●●●●●●
3. 112020882 c.139G>A p.V47I missense 0.00014944●●●●●●
4. 112014401 c.500G>A p.R167K missense 0.00005437●●●●●●
5. 112024325 c.81T>G splice site 0.00004992●●●●●●
6. 112014411 c.490G>A p.E164K missense 0.00004451●●●●●●
7. 112019408 c.278C>A p.P93H missense 0.00004207●●●●●●
8. 112019447 c.239G>A p.R80Q missense 0.00004029●●●●●●
9. 112014520 c.381C>G p.N127K missense 0.00002665●●●●●●
10. 112025788 c.-8-4T>C splice site 0.00002575●●●●●●
11. 112024331 c.80-5_80-4delCT splice site 0.00001983●●●●●●
12. 112014373 c.528dupA p.Glu177ArgfsTer3 frameshift 0.00001905●●●●●●
13. 112025691 c.79+7C>T splice site 0.00001794●●●●●●
14. 112020833 c.188G>A p.R63Q missense 0.00001658●●●●●●
15. 112020834 c.187C>G p.R63G missense 0.00001658●●●●●●
16. 112014327 c.574G>A p.E192K missense 0.00001279●●●●●●
17. 112014336 c.565G>C p.V189L missense 0.00001130●●●●●●
18. 112014546 c.361-6C>A splice site 0.00001038●●●●●●
19. 112014546 c.361-6C>T splice site 0.00001038●●●●●●
20. 112014543 c.361-3T>C splice site 0.00001025●●●●●●
21. 112024332 c.80-6delT splice site 0.00000988●●●●●●
22. 112014537 c.364A>G p.M122V missense 0.00000973●●●●●●
23. 112014535 c.366G>T p.M122I missense 0.00000956●●●●●●
24. 112014533 c.368A>T p.N123I missense 0.00000939●●●●●●
25. 112025692 c.79+6G>T splice site 0.00000894●●●●●●
26. 112014410 c.491A>C p.E164A missense 0.00000892●●●●●●
27. 112014521 c.380A>T p.N127I missense 0.00000888●●●●●●
28. 112020933 c.92-4G>A splice site 0.00000885●●●●●●
29. 112014417 c.484G>A p.A162T missense 0.00000879●●●●●●
30. 112014417 c.484G>T p.A162S missense 0.00000879●●●●●●
31. 112014509 c.392C>T p.T131I missense 0.00000865●●●●●●
32. 112014498 c.403A>G p.I135V missense 0.00000856●●●●●●
33. 112014444 c.457T>G p.S153A missense 0.00000852●●●●●●
34. 112014497 c.404T>A p.I135N missense 0.00000852●●●●●●
35. 112014493 c.408A>G p.I136M missense 0.00000850●●●●●●
36. 112014491 c.410T>C p.F137S missense 0.00000849●●●●●●
37. 112014453 c.448C>T p.Q150X nonsense 0.00000849●●●●●●
38. 112014465 c.436G>A p.D146N missense 0.00000847●●●●●●
39. 112025722 c.55A>T p.I19F missense 0.00000846●●●●●●
40. 112025764 c.13C>G p.P5A missense 0.00000845●●●●●●
41. 112020909 c.112T>G p.F38V missense 0.00000834●●●●●●
42. 112020910 c.111C>G p.Y37X nonsense 0.00000834●●●●●●
43. 112020842 c.179A>G p.Q60R missense 0.00000829●●●●●●
44. 112020843 c.178C>G p.Q60E missense 0.00000829●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.