APOA1 missense variants in ExAC

APOA1 gene summary
APOA1 variants in

The table below lists the APOA1 missense 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. 116707736 c.181G>A p.A61T missense 0.00285294●●●●●●
2. 116707044 c.284T>A p.F95Y missense 0.00054496●●●●●●
3. 116706766 c.562G>T p.A188S missense 0.00049363●●●●●●
4. 116707739 c.178T>G p.S60A missense 0.00035535●●●●●●
5. 116706874 c.454G>A p.E152K missense 0.00015159●●●●●●
6. 116708076 c.28G>A p.V10M missense 0.00015025●●●●●●
7. 116707837 c.80C>A p.P27H missense 0.00009942●●●●●●
8. 116706830 c.498C>A p.S166R missense 0.00009627●●●●●●
9. 116706717 c.611C>T p.A204V missense 0.00005281●●●●●●
10. 116706562 c.766G>A p.A256T missense 0.00005163●●●●●●
11. 116707790 c.127G>A p.V43M missense 0.00004126●●●●●●
12. 116706801 c.527C>T p.A176V missense 0.00003617●●●●●●
13. 116707862 c.55C>T p.R19W missense 0.00003337●●●●●●
14. 116706903 c.425A>G p.K142R missense 0.00003326●●●●●●
15. 116707834 c.83C>G p.P28R missense 0.00003312●●●●●●
16. 116707067 c.261G>T p.Q87H missense 0.00003308●●●●●●
17. 116706802 c.526G>A p.A176T missense 0.00002712●●●●●●
18. 116706726 c.602G>A p.R201H missense 0.00002650●●●●●●
19. 116706567 c.761T>G p.L254R missense 0.00002575●●●●●●
20. 116706666 c.662C>G p.T221S missense 0.00002554●●●●●●
21. 116707741 c.176G>T p.G59V missense 0.00002479●●●●●●
22. 116706802 c.526G>T p.A176S missense 0.00001808●●●●●●
23. 116706751 c.577G>A p.E193K missense 0.00001788●●●●●●
24. 116706727 c.601C>A p.R201S missense 0.00001773●●●●●●
25. 116706691 c.637C>G p.L213V missense 0.00001746●●●●●●
26. 116706604 c.724C>A p.L242M missense 0.00001701●●●●●●
27. 116706655 c.673A>G p.S225G missense 0.00001698●●●●●●
28. 116707127 c.201C>A p.N67K missense 0.00001692●●●●●●
29. 116707826 c.91C>G p.P31A missense 0.00001654●●●●●●
30. 116707816 c.101G>T p.R34L missense 0.00001652●●●●●●
31. 116707801 c.116C>T p.A39V missense 0.00001651●●●●●●
32. 116707796 c.121G>T p.V41L missense 0.00001651●●●●●●
33. 116707769 c.148G>A p.G50S missense 0.00001651●●●●●●
34. 116707759 c.158A>G p.Y53C missense 0.00001651●●●●●●
35. 116706989 c.339T>G p.D113E missense 0.00001648●●●●●●
36. 116706777 c.551G>T p.R184L missense 0.00000903●●●●●●
37. 116706754 c.574G>A p.D192N missense 0.00000895●●●●●●
38. 116706752 c.576C>G p.D192E missense 0.00000894●●●●●●
39. 116706820 c.508G>A p.E170K missense 0.00000890●●●●●●
40. 116706741 c.587A>C p.Q196P missense 0.00000890●●●●●●
41. 116706733 c.595G>A p.A199T missense 0.00000888●●●●●●
42. 116706826 c.502C>G p.L168V missense 0.00000881●●●●●●
43. 116706694 c.634A>G p.R212G missense 0.00000879●●●●●●
44. 116706828 c.500C>G p.P167R missense 0.00000878●●●●●●
45. 116706711 c.617A>G p.K206R missense 0.00000874●●●●●●
46. 116706707 c.621G>T p.E207D missense 0.00000872●●●●●●
47. 116706834 c.494T>G p.L165R missense 0.00000869●●●●●●
48. 116706528 c.800A>C p.Q267P missense 0.00000867●●●●●●
49. 116706836 c.492G>C p.K164N missense 0.00000867●●●●●●
50. 116706840 c.488A>G p.E163G missense 0.00000863●●●●●●
51. 116706843 c.485A>C p.Q162P missense 0.00000862●●●●●●
52. 116706848 c.480G>T p.E160D missense 0.00000858●●●●●●
53. 116706850 c.478G>C p.E160Q missense 0.00000857●●●●●●
54. 116706576 c.752T>A p.V251D missense 0.00000856●●●●●●
55. 116706851 c.477C>A p.H159Q missense 0.00000855●●●●●●
56. 116706670 c.658G>C p.A220P missense 0.00000853●●●●●●
57. 116706601 c.727C>G p.L243V missense 0.00000852●●●●●●
58. 116706664 c.664G>A p.E222K missense 0.00000851●●●●●●
59. 116706615 c.713T>C p.L238P missense 0.00000850●●●●●●
60. 116706622 c.706G>A p.E236K missense 0.00000850●●●●●●
61. 116706643 c.685G>A p.E229K missense 0.00000848●●●●●●
62. 116706644 c.684C>A p.S228R missense 0.00000848●●●●●●
63. 116707117 c.211C>G p.L71V missense 0.00000839●●●●●●
64. 116707861 c.56G>C p.R19P missense 0.00000834●●●●●●
65. 116706910 c.418C>T p.R140C missense 0.00000830●●●●●●
66. 116707838 c.79C>T p.P27S missense 0.00000829●●●●●●
67. 116707086 c.242T>A p.F81Y missense 0.00000829●●●●●●
68. 116706921 c.407T>G p.M136R missense 0.00000828●●●●●●
69. 116707835 c.82C>T p.P28S missense 0.00000828●●●●●●
70. 116707053 c.275C>T p.T92I missense 0.00000826●●●●●●
71. 116707739 c.178T>C p.S60P missense 0.00000826●●●●●●
72. 116707799 c.118A>G p.T40A missense 0.00000825●●●●●●
73. 116707032 c.296T>C p.L99P missense 0.00000825●●●●●●
74. 116707771 c.146G>T p.S49I missense 0.00000825●●●●●●
75. 116706951 c.377A>G p.D126G missense 0.00000825●●●●●●
76. 116706939 c.389A>G p.K130R missense 0.00000825●●●●●●
77. 116707772 c.145A>C p.S49R missense 0.00000825●●●●●●
78. 116707016 c.312G>T p.E104D missense 0.00000825●●●●●●
79. 116707027 c.301A>G p.K101E missense 0.00000825●●●●●●
80. 116707785 c.132T>A p.D44E missense 0.00000825●●●●●●
81. 116707018 c.310G>A p.E104K missense 0.00000825●●●●●●
82. 116706972 c.356C>T p.A119V missense 0.00000824●●●●●●
83. 116706998 c.330G>C p.M110I missense 0.00000824●●●●●●
84. 116706966 c.362T>C p.V121A missense 0.00000824●●●●●●

* 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.