10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
V | P | G | A | P | D | K | P | T | V | S | S | V | T | R | N | S | M | T | V | N | W | E | E | P | E | Y | D | G | G | S | P | V | T | G | Y | W | L | E | M | K | D | T | T | S | K | R | W | K | R | V | N | R | D | P | I | K | A | M | T | L | G | V | S | Y | K | V | T | G | L | I | E | G | S | D | Y | Q | F | R | V | Y | A | I | N | A | A | G | V | G | P | A | S | L | P | S | D | P | A | T | A | R | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
18884 | 1 | V/I | 1 | None | 0.4476 | None | gnomAD-4.0.0 | 7.20496E-07 | |
18885 | 2 | P/R | 2 | rs780890752 | 0.1369 | None | gnomAD-2.1.1 | 1.02E-05 | |
18885 | 2 | P/R | 2 | rs780890752 | 0.1369 | None | gnomAD-4.0.0 | 7.89693E-06 | |
18885 | 2 | P/S | 2 | rs747971851 | 0.1369 | None | gnomAD-2.1.1 | 1.03E-05 | |
18885 | 2 | P/S | 2 | rs747971851 | 0.1369 | None | gnomAD-3.1.2 | 6.6E-06 | |
18885 | 2 | P/S | 2 | rs747971851 | 0.1369 | None | gnomAD-4.0.0 | 2.07683E-05 | |
18886 | 3 | G/E | 3 | rs1421176024 | 0.2827 | None | gnomAD-2.1.1 | 3.19E-05 | |
18886 | 3 | G/R | 3 | None | 0.2827 | None | gnomAD-4.0.0 | 7.16025E-07 | |
18888 | 5 | P/S | 5 | rs755206756 | 0.1081 | None | gnomAD-2.1.1 | 1.44E-05 | |
18888 | 5 | P/S | 5 | rs755206756 | 0.1081 | None | gnomAD-4.0.0 | 1.41814E-06 | |
18888 | 5 | P/T | 5 | None | 0.1081 | None | gnomAD-4.0.0 | 7.09071E-07 | |
18890 | 7 | K/T | 7 | rs2052566882 | 0.6048 | None | gnomAD-4.0.0 | 5.62273E-06 | |
18892 | 9 | T/A | 11 | rs780258242 | 0.3794 | None | gnomAD-2.1.1 | 4.52E-06 | |
18892 | 9 | T/A | 11 | rs780258242 | 0.3794 | None | gnomAD-4.0.0 | 7.00877E-07 | |
18892 | 9 | T/I | 11 | None | 0.3794 | None | gnomAD-4.0.0 | 6.99567E-07 | |
18892 | 9 | T/K | 11 | rs1405285641 | 0.3794 | None | gnomAD-3.1.2 | 6.58E-06 | |
18892 | 9 | T/K | 11 | rs1405285641 | 0.3794 | None | gnomAD-4.0.0 | 1.26472E-06 | |
18892 | 9 | T/P | 11 | rs780258242 | 0.3794 | None | gnomAD-2.1.1 | 1.81E-05 | |
18892 | 9 | T/P | 11 | rs780258242 | 0.3794 | None | gnomAD-3.1.2 | 1.32E-05 | |
18892 | 9 | T/P | 11 | rs780258242 | 0.3794 | None | gnomAD-4.0.0 | 6.33354E-06 | |
18892 | 9 | T/R | 11 | rs1405285641 | 0.3794 | None | gnomAD-2.1.1 | 3.19E-05 | |
18892 | 9 | T/R | 11 | rs1405285641 | 0.3794 | None | gnomAD-4.0.0 | 5.59653E-06 | |
18893 | 10 | V/A | 12 | rs758414408 | 0.4163 | None | gnomAD-2.1.1 | 4.44E-06 | |
18893 | 10 | V/A | 12 | rs758414408 | 0.4163 | None | gnomAD-4.0.0 | 1.67082E-06 | |
18895 | 12 | S/C | 14 | rs1289916968 | 0.3959 | None | gnomAD-2.1.1 | 1.31E-05 | |
18895 | 12 | S/C | 14 | rs1289916968 | 0.3959 | None | gnomAD-3.1.2 | 1.97E-05 | |
18895 | 12 | S/C | 14 | rs1289916968 | 0.3959 | None | gnomAD-4.0.0 | 6.29312E-06 | |
18895 | 12 | S/G | 14 | rs1289916968 | 0.3959 | None | gnomAD-2.1.1 | 4.36E-06 | |
18895 | 12 | S/G | 14 | rs1289916968 | 0.3959 | None | gnomAD-4.0.0 | 1.39178E-06 | |
18895 | 12 | S/I | 14 | rs2052561080 | 0.3959 | None | gnomAD-4.0.0 | 1.65177E-06 | |
18895 | 12 | S/R | 14 | rs375403059 | 0.3959 | None | gnomAD-2.1.1 | 4.33E-06 | |
18895 | 12 | S/R | 14 | rs375403059 | 0.3959 | None | gnomAD-4.0.0 | 6.95199E-07 | |
18896 | 13 | V/M | 15 | rs370629962 | 0.3619 | None | gnomAD-2.1.1 | 1.0294E-04 | |
18896 | 13 | V/M | 15 | rs370629962 | 0.3619 | None | gnomAD-3.1.2 | 3.29E-05 | |
18896 | 13 | V/M | 15 | rs370629962 | 0.3619 | None | gnomAD-4.0.0 | 5.96478E-05 | |
18898 | 15 | R/C | 17 | rs893885472 | 0.4662 | None | gnomAD-2.1.1 | 1.12E-05 | |
18898 | 15 | R/C | 17 | rs893885472 | 0.4662 | None | gnomAD-3.1.2 | 6.58E-06 | |
18898 | 15 | R/C | 17 | rs893885472 | 0.4662 | None | gnomAD-4.0.0 | 6.88541E-06 | |
18898 | 15 | R/G | 17 | None | 0.4662 | None | gnomAD-4.0.0 | 6.91713E-07 | |
18898 | 15 | R/H | 17 | rs572453785 | 0.4662 | None | gnomAD-2.1.1 | 5.22E-05 | |
18898 | 15 | R/H | 17 | rs572453785 | 0.4662 | None | gnomAD-3.1.2 | 1.11922E-04 | |
18898 | 15 | R/H | 17 | rs572453785 | 0.4662 | None | 1000 genomes | 1.99681E-04 | |
18898 | 15 | R/H | 17 | rs572453785 | 0.4662 | None | gnomAD-4.0.0 | 8.25614E-05 | |
18900 | 17 | S/C | 19 | rs1256105535 | 0.1189 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18901 | 18 | M/I | 20 | rs761136728 | 0.1019 | None | gnomAD-2.1.1 | 4.13E-06 | |
18901 | 18 | M/I | 20 | rs761136728 | 0.1019 | None | gnomAD-4.0.0 | 3.21836E-06 | |
18901 | 18 | M/L | 20 | None | 0.1019 | None | gnomAD-4.0.0 | 1.60873E-06 | |
18902 | 19 | T/I | 21 | None | 0.1838 | None | gnomAD-4.0.0 | 1.20033E-06 | |
18903 | 20 | V/L | 22 | None | 0.1385 | None | gnomAD-4.0.0 | 3.20077E-06 | |
18904 | 21 | N/K | 23 | None | 0.2189 | None | gnomAD-4.0.0 | 1.5988E-06 | |
18905 | 22 | W/R | 24 | rs1488040834 | 0.0971 | None | gnomAD-2.1.1 | 4.1E-06 | |
18905 | 22 | W/R | 24 | rs1488040834 | 0.0971 | None | gnomAD-4.0.0 | 3.19706E-06 | |
18906 | 23 | E/K | 25 | rs1263513465 | 0.5296 | None | gnomAD-2.1.1 | 4.1E-06 | |
18906 | 23 | E/K | 25 | rs1263513465 | 0.5296 | None | gnomAD-4.0.0 | 6.16957E-06 | |
18907 | 24 | E/D | 26 | rs1238984956 | 0.4213 | None | gnomAD-2.1.1 | 3.19E-05 | |
18907 | 24 | E/D | 26 | rs1238984956 | 0.4213 | None | gnomAD-3.1.2 | 6.58E-06 | |
18907 | 24 | E/D | 26 | rs1238984956 | 0.4213 | None | gnomAD-4.0.0 | 6.57886E-06 | |
18907 | 24 | E/G | 26 | rs1184443568 | 0.4213 | None | gnomAD-3.1.2 | 1.32E-05 | |
18907 | 24 | E/G | 26 | rs1184443568 | 0.4213 | None | gnomAD-4.0.0 | 1.79982E-05 | |
18907 | 24 | E/K | 26 | None | 0.4213 | None | gnomAD-4.0.0 | 1.59715E-06 | |
18908 | 25 | P/R | 27 | rs1364724756 | 0.1411 | None | gnomAD-3.1.2 | 6.58E-06 | |
18908 | 25 | P/R | 27 | rs1364724756 | 0.1411 | None | gnomAD-4.0.0 | 2.03044E-06 | |
18909 | 26 | E/K | 28 | rs1224434103 | 0.8311 | None | gnomAD-2.1.1 | 4.09E-06 | |
18909 | 26 | E/K | 28 | rs1224434103 | 0.8311 | None | gnomAD-4.0.0 | 4.11078E-06 | |
18910 | 27 | Y/H | 29 | None | 0.8592 | None | gnomAD-4.0.0 | 1.59601E-06 | |
18910 | 27 | Y/N | 29 | None | 0.8592 | None | gnomAD-4.0.0 | 1.59601E-06 | |
18911 | 28 | D/E | 30 | rs1225577870 | 0.3242 | None | gnomAD-2.1.1 | 4.08E-06 | |
18911 | 28 | D/E | 30 | rs1225577870 | 0.3242 | None | gnomAD-4.0.0 | 6.84891E-07 | |
18911 | 28 | D/G | 30 | rs1296392570 | 0.3242 | None | gnomAD-2.1.1 | 4.08E-06 | |
18911 | 28 | D/G | 30 | rs1296392570 | 0.3242 | None | gnomAD-3.1.2 | 6.58E-06 | |
18911 | 28 | D/G | 30 | rs1296392570 | 0.3242 | None | gnomAD-4.0.0 | 4.34222E-06 | |
18911 | 28 | D/H | 30 | None | 0.3242 | None | gnomAD-4.0.0 | 1.20034E-06 | |
18913 | 30 | G/D | 32 | rs535913207 | 0.5828 | None | gnomAD-2.1.1 | 4.08E-06 | |
18913 | 30 | G/D | 32 | rs535913207 | 0.5828 | None | gnomAD-3.1.2 | 6.58E-06 | |
18913 | 30 | G/D | 32 | rs535913207 | 0.5828 | None | 1000 genomes | 1.99681E-04 | |
18913 | 30 | G/D | 32 | rs535913207 | 0.5828 | None | gnomAD-4.0.0 | 9.13507E-06 | |
18915 | 32 | P/L | 34 | rs2052547885 | 0.6871 | None | gnomAD-3.1.2 | 6.58E-06 | |
18915 | 32 | P/L | 34 | rs2052547885 | 0.6871 | None | gnomAD-4.0.0 | 6.58007E-06 | |
18916 | 33 | V/E | 35 | rs1296926879 | 0.2362 | None | gnomAD-2.1.1 | 1.44E-05 | |
18916 | 33 | V/E | 35 | rs1296926879 | 0.2362 | None | gnomAD-3.1.2 | 6.58E-06 | |
18916 | 33 | V/E | 35 | rs1296926879 | 0.2362 | None | gnomAD-4.0.0 | 9.30197E-06 | |
18917 | 34 | T/K | 36 | rs370348484 | 0.4514 | None | gnomAD-4.0.0 | 1.59383E-06 | |
18918 | 35 | G/A | 37 | rs772925562 | 0.0873 | None | gnomAD-2.1.1 | 4.07E-06 | |
18918 | 35 | G/A | 37 | rs772925562 | 0.0873 | None | gnomAD-4.0.0 | 2.73864E-06 | |
18918 | 35 | G/W | 37 | rs762541850 | 0.0873 | None | gnomAD-2.1.1 | 4.07E-06 | |
18918 | 35 | G/W | 37 | rs762541850 | 0.0873 | None | gnomAD-4.0.0 | 1.5938E-06 | |
18920 | 37 | W/R | 39 | rs1425662810 | 0.1330 | None | gnomAD-2.1.1 | 4.06E-06 | |
18920 | 37 | W/R | 39 | rs1425662810 | 0.1330 | None | gnomAD-4.0.0 | 1.59347E-06 | |
18921 | 38 | L/P | 40 | rs2052542764 | 0.0786 | None | gnomAD-3.1.2 | 6.58E-06 | |
18921 | 38 | L/P | 40 | rs2052542764 | 0.0786 | None | gnomAD-4.0.0 | 3.0454E-06 | |
18922 | 39 | E/D | 41 | rs776653576 | 0.0927 | None | gnomAD-4.0.0 | 1.59327E-06 | |
18922 | 39 | E/G | 41 | rs761707154 | 0.0927 | None | gnomAD-4.0.0 | 7.65409E-05 | |
18923 | 40 | M/I | 42 | rs2052539328 | 0.1025 | None | gnomAD-3.1.2 | 6.58E-06 | |
18923 | 40 | M/I | 42 | rs2052539328 | 0.1025 | None | gnomAD-4.0.0 | 6.09062E-06 | |
18927 | 44 | T/A | 54 | rs937956129 | 0.7669 | None | gnomAD-2.1.1 | 4.05E-06 | |
18927 | 44 | T/A | 54 | rs937956129 | 0.7669 | None | gnomAD-4.0.0 | 1.36903E-06 | |
18927 | 44 | T/N | 54 | rs1432586088 | 0.7669 | None | gnomAD-2.1.1 | 4.05E-06 | |
18927 | 44 | T/N | 54 | rs1432586088 | 0.7669 | None | gnomAD-4.0.0 | 1.5929E-06 | |
18929 | 46 | K/E | 63 | None | 0.9065 | None | gnomAD-4.0.0 | 3.18554E-06 | |
18930 | 47 | R/G | 64 | rs727503595 | 0.7693 | None | gnomAD-4.0.0 | 6.84471E-06 | |
18930 | 47 | R/K | 64 | rs746833235 | 0.7693 | None | gnomAD-2.1.1 | 4.04E-06 | |
18931 | 48 | W/R | 65 | None | 0.1547 | None | gnomAD-4.0.0 | 2.40065E-06 | |
18931 | 48 | W/S | 65 | None | 0.1547 | None | gnomAD-4.0.0 | 1.20033E-06 | |
18933 | 50 | R/G | 67 | rs780239769 | 0.2333 | None | gnomAD-4.0.0 | 3.42228E-06 | |
18933 | 50 | R/I | 67 | None | 0.2333 | None | gnomAD-4.0.0 | 1.59263E-06 | |
18934 | 51 | V/L | 68 | rs772344497 | 0.2186 | None | gnomAD-2.1.1 | 1.43E-05 | |
18934 | 51 | V/L | 68 | rs772344497 | 0.2186 | None | gnomAD-3.1.2 | 4.61E-05 | |
18934 | 51 | V/L | 68 | rs772344497 | 0.2186 | None | gnomAD-4.0.0 | 1.28221E-05 | |
18936 | 53 | R/Q | 70 | rs745914315 | 0.8116 | None | gnomAD-2.1.1 | 3.58E-05 | |
18936 | 53 | R/Q | 70 | rs745914315 | 0.8116 | None | gnomAD-3.1.2 | 1.97E-05 | |
18936 | 53 | R/Q | 70 | rs745914315 | 0.8116 | None | gnomAD-4.0.0 | 2.47986E-05 | |
18937 | 54 | D/G | 72 | None | 0.4293 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18937 | 54 | D/H | 72 | rs779010234 | 0.4293 | None | gnomAD-2.1.1 | 4.04E-06 | |
18937 | 54 | D/H | 72 | rs779010234 | 0.4293 | None | gnomAD-4.0.0 | 1.59249E-06 | |
18938 | 55 | P/S | 75 | None | 0.3001 | None | gnomAD-4.0.0 | 6.84429E-07 | |
18939 | 56 | I/M | 77 | rs757376568 | 0.1329 | None | gnomAD-4.0.0 | 4.77715E-06 | |
18939 | 56 | I/N | 77 | None | 0.1329 | None | gnomAD-4.0.0 | 6.00161E-06 | |
18940 | 57 | K/E | 83 | None | 0.8332 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18940 | 57 | K/N | 83 | None | 0.8332 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18941 | 58 | A/V | 84 | rs754264431 | 0.1163 | None | gnomAD-2.1.1 | 4.3E-05 | |
18941 | 58 | A/V | 84 | rs754264431 | 0.1163 | None | gnomAD-3.1.2 | 3.29E-05 | |
18941 | 58 | A/V | 84 | rs754264431 | 0.1163 | None | gnomAD-4.0.0 | 2.85171E-05 | |
18942 | 59 | M/T | 85 | None | 0.1139 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18943 | 60 | T/A | 86 | None | 0.2714 | None | gnomAD-4.0.0 | 1.5923E-06 | |
18943 | 60 | T/N | 86 | None | 0.2714 | None | gnomAD-4.0.0 | 4.77683E-06 | |
18944 | 61 | L/F | 87 | rs778351310 | 0.9900 | None | gnomAD-2.1.1 | 8.06E-06 | |
18944 | 61 | L/F | 87 | rs778351310 | 0.9900 | None | gnomAD-3.1.2 | 6.58E-06 | |
18944 | 61 | L/F | 87 | rs778351310 | 0.9900 | None | gnomAD-4.0.0 | 6.19929E-06 | |
18944 | 61 | L/S | 87 | None | 0.9900 | None | gnomAD-4.0.0 | 1.59225E-06 | |
18945 | 62 | G/S | 88 | None | 0.4770 | None | gnomAD-4.0.0 | 1.59226E-06 | |
18946 | 63 | V/A | 89 | None | 0.4085 | None | gnomAD-4.0.0 | 1.59226E-06 | |
18947 | 64 | S/A | 90 | rs1357569723 | 0.1243 | None | gnomAD-2.1.1 | 3.19E-05 | |
18949 | 66 | K/E | 92 | None | 0.3912 | None | gnomAD-4.0.0 | 1.5922E-06 | |
18951 | 68 | T/I | 94 | None | 0.5553 | None | gnomAD-4.0.0 | 1.36877E-06 | |
18951 | 68 | T/N | 94 | rs2052524114 | 0.5553 | None | gnomAD-3.1.2 | 6.58E-06 | |
18951 | 68 | T/N | 94 | rs2052524114 | 0.5553 | None | gnomAD-4.0.0 | 1.85971E-06 | |
18952 | 69 | G/S | 96 | rs766126662 | 0.5012 | None | gnomAD-2.1.1 | 3.22E-05 | |
18952 | 69 | G/S | 96 | rs766126662 | 0.5012 | None | gnomAD-4.0.0 | 4.79067E-06 | |
18952 | 69 | G/V | 96 | rs762735652 | 0.5012 | None | gnomAD-2.1.1 | 4.03E-06 | |
18952 | 69 | G/V | 96 | rs762735652 | 0.5012 | None | gnomAD-4.0.0 | 1.02657E-05 | |
18953 | 70 | L/I | 97 | rs879079168 | 0.1208 | None | gnomAD-3.1.2 | 6.58E-06 | |
18953 | 70 | L/I | 97 | rs879079168 | 0.1208 | None | gnomAD-4.0.0 | 6.57999E-06 | |
18953 | 70 | L/P | 97 | rs749931527 | 0.1208 | None | gnomAD-2.1.1 | 4.03E-06 | |
18953 | 70 | L/P | 97 | rs749931527 | 0.1208 | None | gnomAD-3.1.2 | 6.58E-06 | |
18953 | 70 | L/P | 97 | rs749931527 | 0.1208 | None | gnomAD-4.0.0 | 2.56329E-06 | |
18953 | 70 | L/V | 97 | None | 0.1208 | None | gnomAD-4.0.0 | 1.5922E-06 | |
18954 | 71 | I/T | 98 | rs1411922083 | 0.4617 | None | gnomAD-2.1.1 | 4.03E-06 | |
18954 | 71 | I/T | 98 | rs1411922083 | 0.4617 | None | gnomAD-3.1.2 | 6.58E-06 | |
18954 | 71 | I/T | 98 | rs1411922083 | 0.4617 | None | gnomAD-4.0.0 | 4.33902E-06 | |
18956 | 73 | G/D | 100 | rs764791747 | 0.4290 | None | gnomAD-3.1.2 | 6.58E-06 | |
18956 | 73 | G/D | 100 | rs764791747 | 0.4290 | None | gnomAD-4.0.0 | 6.57255E-06 | |
18956 | 73 | G/V | 100 | rs764791747 | 0.4290 | None | gnomAD-2.1.1 | 4.03E-06 | |
18956 | 73 | G/V | 100 | rs764791747 | 0.4290 | None | gnomAD-3.1.2 | 6.58E-06 | |
18956 | 73 | G/V | 100 | rs764791747 | 0.4290 | None | gnomAD-4.0.0 | 6.57765E-06 | |
18957 | 74 | S/F | 102 | None | 0.2082 | None | gnomAD-4.0.0 | 1.59227E-06 | |
18958 | 75 | D/E | 103 | None | 0.2510 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18958 | 75 | D/H | 103 | rs576158850 | 0.2510 | None | gnomAD-2.1.1 | 4.03E-06 | |
18958 | 75 | D/H | 103 | rs576158850 | 0.2510 | None | gnomAD-4.0.0 | 6.84403E-07 | |
18958 | 75 | D/N | 103 | rs576158850 | 0.2510 | None | gnomAD-2.1.1 | 4.43E-05 | |
18958 | 75 | D/N | 103 | rs576158850 | 0.2510 | None | gnomAD-3.1.2 | 5.92E-05 | |
18958 | 75 | D/N | 103 | rs576158850 | 0.2510 | None | 1000 genomes | 1.99681E-04 | |
18958 | 75 | D/N | 103 | rs576158850 | 0.2510 | None | gnomAD-4.0.0 | 5.64075E-05 | |
18958 | 75 | D/V | 103 | rs2052516508 | 0.2510 | None | gnomAD-3.1.2 | 6.58E-06 | |
18958 | 75 | D/V | 103 | rs2052516508 | 0.2510 | None | gnomAD-4.0.0 | 6.57843E-06 | |
18959 | 76 | Y/C | 104 | rs775301931 | 0.1205 | None | gnomAD-2.1.1 | 8.06E-06 | |
18959 | 76 | Y/C | 104 | rs775301931 | 0.1205 | None | gnomAD-4.0.0 | 3.18448E-06 | |
18959 | 76 | Y/D | 104 | rs753144774 | 0.1205 | None | gnomAD-2.1.1 | 4.03E-06 | |
18959 | 76 | Y/N | 104 | rs753144774 | 0.1205 | None | gnomAD-2.1.1 | 7.15E-06 | |
18959 | 76 | Y/N | 104 | rs753144774 | 0.1205 | None | gnomAD-3.1.2 | 5.26E-05 | |
18959 | 76 | Y/N | 104 | rs753144774 | 0.1205 | None | gnomAD-4.0.0 | 6.13665E-05 | |
18960 | 77 | Q/H | 105 | rs377413828 | 0.2383 | None | gnomAD-2.1.1 | 4.03E-06 | |
18960 | 77 | Q/H | 105 | rs377413828 | 0.2383 | None | gnomAD-3.1.2 | 6.58E-06 | |
18960 | 77 | Q/H | 105 | rs377413828 | 0.2383 | None | gnomAD-4.0.0 | 2.56365E-06 | |
18960 | 77 | Q/R | 105 | rs1250731428 | 0.2383 | None | gnomAD-2.1.1 | 8.06E-06 | |
18960 | 77 | Q/R | 105 | rs1250731428 | 0.2383 | None | gnomAD-3.1.2 | 1.32E-05 | |
18960 | 77 | Q/R | 105 | rs1250731428 | 0.2383 | None | gnomAD-4.0.0 | 1.42571E-05 | |
18961 | 78 | F/L | 106 | None | 0.1382 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18962 | 79 | R/Q | 107 | rs141399146 | 0.1269 | None | gnomAD-2.1.1 | 2.01E-05 | |
18962 | 79 | R/Q | 107 | rs141399146 | 0.1269 | None | gnomAD-3.1.2 | 1.97E-05 | |
18962 | 79 | R/Q | 107 | rs141399146 | 0.1269 | None | 1000 genomes | 3.99361E-04 | |
18962 | 79 | R/Q | 107 | rs141399146 | 0.1269 | None | gnomAD-4.0.0 | 2.10745E-05 | |
18962 | 79 | R/W | 107 | rs556286196 | 0.1269 | None | gnomAD-2.1.1 | 8.06E-06 | |
18962 | 79 | R/W | 107 | rs556286196 | 0.1269 | None | gnomAD-3.1.2 | 3.95E-05 | |
18962 | 79 | R/W | 107 | rs556286196 | 0.1269 | None | 1000 genomes | 1.99681E-04 | |
18962 | 79 | R/W | 107 | rs556286196 | 0.1269 | None | gnomAD-4.0.0 | 1.23969E-05 | |
18964 | 81 | Y/C | 109 | rs770854579 | 0.1256 | None | gnomAD-2.1.1 | 1.07E-05 | |
18964 | 81 | Y/C | 109 | rs770854579 | 0.1256 | None | gnomAD-3.1.2 | 6.58E-06 | |
18964 | 81 | Y/C | 109 | rs770854579 | 0.1256 | None | gnomAD-4.0.0 | 2.56372E-06 | |
18964 | 81 | Y/H | 109 | None | 0.1256 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18966 | 83 | I/M | 111 | rs749403840 | 0.1564 | None | gnomAD-2.1.1 | 8.06E-06 | |
18966 | 83 | I/M | 111 | rs749403840 | 0.1564 | None | gnomAD-4.0.0 | 1.59215E-06 | |
18967 | 84 | N/K | 112 | rs1224594831 | 0.1100 | None | gnomAD-2.1.1 | 4.03E-06 | |
18967 | 84 | N/K | 112 | rs1224594831 | 0.1100 | None | gnomAD-4.0.0 | 1.59212E-06 | |
18967 | 84 | N/S | 112 | rs727503594 | 0.1100 | None | gnomAD-2.1.1 | 7.15E-06 | |
18967 | 84 | N/S | 112 | rs727503594 | 0.1100 | None | gnomAD-3.1.2 | 1.97E-05 | |
18967 | 84 | N/S | 112 | rs727503594 | 0.1100 | None | gnomAD-4.0.0 | 4.33898E-06 | |
18969 | 86 | A/G | 114 | None | 0.5146 | None | gnomAD-4.0.0 | 2.05308E-06 | |
18969 | 86 | A/V | 114 | rs2052509018 | 0.5146 | None | gnomAD-3.1.2 | 6.58E-06 | |
18969 | 86 | A/V | 114 | rs2052509018 | 0.5146 | None | gnomAD-4.0.0 | 6.57601E-06 | |
18971 | 88 | V/M | 116 | rs373153121 | 0.2485 | None | gnomAD-2.1.1 | 5.72E-05 | |
18971 | 88 | V/M | 116 | rs373153121 | 0.2485 | None | gnomAD-3.1.2 | 5.26E-05 | |
18971 | 88 | V/M | 116 | rs373153121 | 0.2485 | None | gnomAD-4.0.0 | 3.71923E-05 | |
18972 | 89 | G/A | 118 | rs755417012 | 0.1507 | None | gnomAD-2.1.1 | 4.03E-06 | |
18972 | 89 | G/A | 118 | rs755417012 | 0.1507 | None | gnomAD-4.0.0 | 1.59208E-06 | |
18974 | 91 | A/V | 120 | rs1336627311 | 0.2490 | None | gnomAD-2.1.1 | 4.03E-06 | |
18974 | 91 | A/V | 120 | rs1336627311 | 0.2490 | None | gnomAD-4.0.0 | 1.59207E-06 | |
18976 | 93 | L/M | 122 | rs1333698664 | 0.1829 | None | gnomAD-2.1.1 | 4.03E-06 | |
18976 | 93 | L/M | 122 | rs1333698664 | 0.1829 | None | gnomAD-4.0.0 | 1.36874E-06 | |
18976 | 93 | L/R | 122 | None | 0.1829 | None | gnomAD-4.0.0 | 1.59214E-06 | |
18977 | 94 | P/S | 123 | rs750056302 | 0.2037 | None | gnomAD-2.1.1 | 4.03E-06 | |
18977 | 94 | P/S | 123 | rs750056302 | 0.2037 | None | gnomAD-4.0.0 | 1.59221E-06 | |
18979 | 96 | D/E | 125 | rs761214924 | 0.7597 | None | gnomAD-2.1.1 | 4.03E-06 | |
18979 | 96 | D/H | 125 | None | 0.7597 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18980 | 97 | P/L | 126 | rs753452704 | 0.5121 | None | gnomAD-2.1.1 | 3.19E-05 | |
18980 | 97 | P/L | 126 | rs753452704 | 0.5121 | None | gnomAD-3.1.2 | 6.58E-06 | |
18980 | 97 | P/L | 126 | rs753452704 | 0.5121 | None | gnomAD-4.0.0 | 6.57644E-06 | |
18980 | 97 | P/S | 126 | None | 0.5121 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18981 | 98 | A/E | 127 | None | 0.1958 | None | gnomAD-4.0.0 | 1.36902E-06 | |
18981 | 98 | A/P | 127 | rs760651904 | 0.1958 | None | gnomAD-2.1.1 | 4.03E-06 | |
18981 | 98 | A/P | 127 | rs760651904 | 0.1958 | None | gnomAD-4.0.0 | 6.84439E-07 | |
18981 | 98 | A/T | 127 | rs760651904 | 0.1958 | None | gnomAD-2.1.1 | 4.03E-06 | |
18981 | 98 | A/T | 127 | rs760651904 | 0.1958 | None | gnomAD-3.1.2 | 6.58E-06 | |
18981 | 98 | A/T | 127 | rs760651904 | 0.1958 | None | gnomAD-4.0.0 | 3.09957E-06 | |
18981 | 98 | A/V | 127 | rs397517627 | 0.1958 | None | gnomAD-2.1.1 | 1.1101E-04 | |
18981 | 98 | A/V | 127 | rs397517627 | 0.1958 | None | gnomAD-3.1.2 | 1.31529E-04 | |
18981 | 98 | A/V | 127 | rs397517627 | 0.1958 | None | gnomAD-4.0.0 | 2.38073E-04 | |
18983 | 100 | A/T | 130 | rs377000174 | 0.0794 | None | gnomAD-2.1.1 | 9.32E-05 | |
18983 | 100 | A/T | 130 | rs377000174 | 0.0794 | None | gnomAD-3.1.2 | 6.57E-05 | |
18983 | 100 | A/T | 130 | rs377000174 | 0.0794 |
MD |
Literature | None | |
18983 | 100 | A/T | 130 | rs377000174 | 0.0794 | None | gnomAD-4.0.0 | 1.0293E-04 | |
18983 | 100 | A/V | 130 | rs774502532 | 0.0794 | None | gnomAD-2.1.1 | 3.23E-05 | |
18983 | 100 | A/V | 130 | rs774502532 | 0.0794 | None | gnomAD-4.0.0 | 1.23232E-05 | |
18984 | 101 | R/G | 131 | None | 0.6430 | None | gnomAD-4.0.0 | 6.85385E-07 | |
18984 | 101 | R/T | 131 | None | 0.6430 | None | gnomAD-4.0.0 | 2.0539E-06 | |
18985 | 102 | D/N | 132 | rs1244503464 | 1.0521 | None | gnomAD-2.1.1 | 4.04E-06 | |
18985 | 102 | D/N | 132 | rs1244503464 | 1.0521 | None | gnomAD-4.0.0 | 2.05416E-06 | |
18985 | 102 | D/V | 132 | None | 1.0521 | None | gnomAD-4.0.0 | 1.59483E-06 |