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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
13780 | 1 | V/L | 1 | None | 0.3112 | None | gnomAD-4.0.0 | 1.72771E-06 | |
13781 | 2 | R/C | 2 | rs768469221 | 0.5094 | None | gnomAD-2.1.1 | 2.43E-05 | |
13781 | 2 | R/C | 2 | rs768469221 | 0.5094 | None | gnomAD-4.0.0 | 1.4801E-05 | |
13781 | 2 | R/H | 2 | rs370878642 | 0.5094 | None | gnomAD-2.1.1 | 1.44E-05 | |
13781 | 2 | R/H | 2 | rs370878642 | 0.5094 | None | gnomAD-3.1.2 | 1.32E-05 | |
13781 | 2 | R/H | 2 | rs370878642 | 0.5094 | None | gnomAD-4.0.0 | 5.14997E-05 | |
13781 | 2 | R/S | 2 | rs768469221 | 0.5094 | None | gnomAD-2.1.1 | 4.86E-06 | |
13781 | 2 | R/S | 2 | rs768469221 | 0.5094 | None | gnomAD-3.1.2 | 6.58E-06 | |
13781 | 2 | R/S | 2 | rs768469221 | 0.5094 | None | gnomAD-4.0.0 | 4.45638E-06 | |
13783 | 4 | V/A | 4 | rs2060418351 | 0.4522 | None | gnomAD-3.1.2 | 6.58E-06 | |
13783 | 4 | V/A | 4 | rs2060418351 | 0.4522 | None | gnomAD-4.0.0 | 6.5754E-06 | |
13784 | 5 | K/N | 5 | None | 0.4795 | None | gnomAD-4.0.0 | 3.32251E-06 | |
13784 | 5 | K/R | 5 | None | 0.4795 | None | gnomAD-4.0.0 | 1.66562E-06 | |
13785 | 6 | T/A | 7 | None | 0.4617 | None | gnomAD-4.0.0 | 2.09016E-06 | |
13787 | 8 | E/Q | 9 | None | 0.7246 | None | gnomAD-4.0.0 | 1.64349E-06 | |
13790 | 11 | V/A | 13 | None | 0.2758 | None | gnomAD-4.0.0 | 1.37878E-06 | |
13790 | 11 | V/G | 13 | None | 0.2758 | None | gnomAD-4.0.0 | 6.8939E-07 | |
13791 | 12 | T/I | 14 | rs2154230629 | 0.4690 | None | gnomAD-3.1.2 | 6.58E-06 | |
13791 | 12 | T/I | 14 | rs2154230629 | 0.4690 | None | gnomAD-4.0.0 | 6.57376E-06 | |
13792 | 13 | V/M | 16 | rs1445036438 | 0.1568 | None | gnomAD-4.0.0 | 2.06631E-06 | |
13793 | 14 | V/A | 18 | None | 0.5226 | None | gnomAD-4.0.0 | 1.37447E-06 | |
13794 | 15 | K/R | 23 | rs944123089 | 0.4647 | None | gnomAD-2.1.1 | 8.18E-06 | |
13794 | 15 | K/R | 23 | rs944123089 | 0.4647 | None | gnomAD-3.1.2 | 6.57E-06 | |
13794 | 15 | K/R | 23 | rs944123089 | 0.4647 | None | gnomAD-4.0.0 | 3.7294E-06 | |
13796 | 17 | Q/R | 25 | rs1165418882 | 0.4587 | None | gnomAD-2.1.1 | 3.19E-05 | |
13796 | 17 | Q/R | 25 | rs1165418882 | 0.4587 | None | gnomAD-3.1.2 | 6.58E-06 | |
13796 | 17 | Q/R | 25 | rs1165418882 | 0.4587 | None | gnomAD-4.0.0 | 6.57514E-06 | |
13797 | 18 | P/L | 26 | rs1205515315 | 0.3168 | None | gnomAD-4.0.0 | 2.74024E-06 | |
13798 | 19 | L/S | 28 | rs779304267 | 0.1527 | None | gnomAD-2.1.1 | 4.05E-06 | |
13798 | 19 | L/S | 28 | rs779304267 | 0.1527 | None | gnomAD-4.0.0 | 1.59522E-06 | |
13800 | 21 | L/S | 30 | None | 0.1586 | None | gnomAD-4.0.0 | 6.8496E-07 | |
13800 | 21 | L/W | 30 | rs2060414501 | 0.1586 | None | gnomAD-3.1.2 | 6.58E-06 | |
13800 | 21 | L/W | 30 | rs2060414501 | 0.1586 | None | gnomAD-4.0.0 | 2.48176E-06 | |
13801 | 22 | S/G | 31 | None | 0.3693 | None | gnomAD-4.0.0 | 2.40064E-06 | |
13801 | 22 | S/N | 31 | rs757590541 | 0.3693 | None | gnomAD-2.1.1 | 1.62E-05 | |
13801 | 22 | S/N | 31 | rs757590541 | 0.3693 | None | gnomAD-3.1.2 | 6.58E-06 | |
13801 | 22 | S/N | 31 | rs757590541 | 0.3693 | None | gnomAD-4.0.0 | 3.8493E-06 | |
13802 | 23 | C/Y | 33 | None | 0.1010 | None | gnomAD-4.0.0 | 1.59385E-06 | |
13803 | 24 | E/Q | 34 | None | 0.2843 | None | gnomAD-2.1.1 | 3.19E-05 | |
13803 | 24 | E/Q | 34 | None | 0.2843 | None | gnomAD-4.0.0 | 1.59369E-06 | |
13805 | 26 | N/K | 38 | rs753262730 | 0.2370 | None | gnomAD-2.1.1 | 8.07E-06 | |
13805 | 26 | N/K | 38 | rs753262730 | 0.2370 | None | gnomAD-4.0.0 | 1.5932E-06 | |
13806 | 27 | K/N | 40 | rs767727056 | 0.1740 | None | gnomAD-2.1.1 | 4.04E-06 | |
13806 | 27 | K/N | 40 | rs767727056 | 0.1740 | None | gnomAD-4.0.0 | 1.59306E-06 | |
13808 | 29 | R/C | 44 | rs375947044 | 0.5643 | None | gnomAD-2.1.1 | 1.61E-05 | |
13808 | 29 | R/C | 44 | rs375947044 | 0.5643 | None | gnomAD-3.1.2 | 1.97E-05 | |
13808 | 29 | R/C | 44 | rs375947044 | 0.5643 | None | 1000 genomes | 3.99361E-04 | |
13808 | 29 | R/C | 44 | rs375947044 | 0.5643 | None | gnomAD-4.0.0 | 9.29985E-06 | |
13808 | 29 | R/H | 44 | rs764850788 | 0.5643 | None | gnomAD-2.1.1 | 2.02E-05 | |
13808 | 29 | R/H | 44 | rs764850788 | 0.5643 | None | gnomAD-3.1.2 | 6.58E-06 | |
13808 | 29 | R/H | 44 | rs764850788 | 0.5643 | None | gnomAD-4.0.0 | 5.57979E-06 | |
13808 | 29 | R/S | 44 | rs375947044 | 0.5643 | None | gnomAD-2.1.1 | 4.03E-06 | |
13808 | 29 | R/S | 44 | rs375947044 | 0.5643 | None | gnomAD-4.0.0 | 6.84539E-07 | |
13809 | 30 | D/N | 45 | rs761516226 | 0.7357 | None | gnomAD-2.1.1 | 8.06E-06 | |
13809 | 30 | D/N | 45 | rs761516226 | 0.7357 | None | gnomAD-4.0.0 | 3.18579E-06 | |
13810 | 31 | V/A | 46 | rs1167247967 | 0.2209 | None | gnomAD-2.1.1 | 4.03E-06 | |
13810 | 31 | V/A | 46 | rs1167247967 | 0.2209 | None | gnomAD-4.0.0 | 3.18564E-06 | |
13810 | 31 | V/L | 46 | None | 0.2209 | None | gnomAD-4.0.0 | 6.84494E-07 | |
13810 | 31 | V/M | 46 | rs763668057 | 0.2209 | None | gnomAD-2.1.1 | 2.42E-05 | |
13810 | 31 | V/M | 46 | rs763668057 | 0.2209 | None | gnomAD-3.1.2 | 1.32E-05 | |
13810 | 31 | V/M | 46 | rs763668057 | 0.2209 | None | gnomAD-4.0.0 | 4.15381E-05 | |
13811 | 32 | V/I | 47 | rs920253062 | 0.3264 | None | gnomAD-3.1.2 | 1.32E-05 | |
13811 | 32 | V/I | 47 | rs920253062 | 0.3264 | None | gnomAD-4.0.0 | 1.3153E-05 | |
13811 | 32 | V/L | 47 | None | 0.3264 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13813 | 34 | R/K | 49 | rs374421638 | 0.3543 | None | gnomAD-2.1.1 | 8.06E-06 | |
13813 | 34 | R/K | 49 | rs374421638 | 0.3543 | None | gnomAD-3.1.2 | 2.63E-05 | |
13813 | 34 | R/K | 49 | rs374421638 | 0.3543 | None | gnomAD-4.0.0 | 5.57951E-06 | |
13814 | 35 | K/R | 50 | None | 0.1274 | None | gnomAD-4.0.0 | 6.84457E-06 | |
13815 | 36 | D/G | 51 | rs771949273 | 0.4867 | None | gnomAD-2.1.1 | 1.21E-05 | |
13815 | 36 | D/G | 51 | rs771949273 | 0.4867 | None | gnomAD-3.1.2 | 6.58E-06 | |
13815 | 36 | D/G | 51 | rs771949273 | 0.4867 | None | gnomAD-4.0.0 | 7.43927E-06 | |
13816 | 37 | G/R | 52 | None | 0.4527 | None | gnomAD-4.0.0 | 3.18511E-06 | |
13816 | 37 | G/S | 52 | rs1422135009 | 0.4527 | None | gnomAD-3.1.2 | 6.58E-06 | |
13816 | 37 | G/S | 52 | rs1422135009 | 0.4527 | None | gnomAD-4.0.0 | 5.12839E-06 | |
13818 | 39 | I/N | 56 | rs929168416 | 0.6238 | None | gnomAD-2.1.1 | 4.03E-06 | |
13818 | 39 | I/N | 56 | rs929168416 | 0.6238 | None | gnomAD-4.0.0 | 6.84444E-07 | |
13818 | 39 | I/T | 56 | rs929168416 | 0.6238 | None | gnomAD-4.0.0 | 2.05333E-06 | |
13820 | 41 | V/A | 59 | rs373963620 | 0.7688 | None | gnomAD-4.0.0 | 4.80129E-06 | |
13820 | 41 | V/M | 59 | rs376127282 | 0.7688 | None | gnomAD-2.1.1 | 8.05E-06 | |
13820 | 41 | V/M | 59 | rs376127282 | 0.7688 | None | gnomAD-3.1.2 | 6.58E-06 | |
13820 | 41 | V/M | 59 | rs376127282 | 0.7688 | None | gnomAD-4.0.0 | 6.41055E-06 | |
13821 | 42 | E/K | 70 | rs749586891 | 0.5378 | None | gnomAD-2.1.1 | 4.03E-06 | |
13821 | 42 | E/Q | 70 | rs749586891 | 0.5378 | None | gnomAD-2.1.1 | 4.03E-06 | |
13821 | 42 | E/Q | 70 | rs749586891 | 0.5378 | None | gnomAD-4.0.0 | 1.5925E-06 | |
13823 | 44 | P/R | 74 | rs2060403983 | 0.8219 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13825 | 46 | R/G | 115 | None | 0.2354 | None | gnomAD-4.0.0 | 4.10659E-06 | |
13825 | 46 | R/L | 115 | rs727504774 | 0.2354 | None | gnomAD-2.1.1 | 8.05E-06 | |
13825 | 46 | R/L | 115 | rs727504774 | 0.2354 | None | gnomAD-4.0.0 | 6.84428E-07 | |
13825 | 46 | R/Q | 115 | rs727504774 | 0.2354 | None | gnomAD-2.1.1 | 2.5E-05 | |
13825 | 46 | R/Q | 115 | rs727504774 | 0.2354 | None | gnomAD-3.1.2 | 3.29E-05 | |
13825 | 46 | R/Q | 115 | rs727504774 | 0.2354 | None | gnomAD-4.0.0 | 2.60376E-05 | |
13826 | 47 | I/N | 121 | rs1252440805 | 0.1346 | None | gnomAD-4.0.0 | 6.84415E-07 | |
13826 | 47 | I/T | 121 | rs1252440805 | 0.1346 | None | gnomAD-2.1.1 | 8.05E-06 | |
13826 | 47 | I/V | 121 | None | 0.1346 | None | gnomAD-4.0.0 | 1.59242E-06 | |
13827 | 48 | V/E | 122 | None | 0.3959 | None | gnomAD-4.0.0 | 4.79082E-06 | |
13827 | 48 | V/G | 122 | None | 0.3959 | None | gnomAD-4.0.0 | 6.84403E-07 | |
13827 | 48 | V/L | 122 | None | 0.3959 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13828 | 49 | P/S | 123 | rs748565404 | 0.4376 | None | gnomAD-3.1.2 | 6.58E-06 | |
13828 | 49 | P/S | 123 | rs748565404 | 0.4376 | None | gnomAD-4.0.0 | 6.58137E-06 | |
13829 | 50 | G/A | 125 | rs1114167326 | 0.2887 | None | gnomAD-2.1.1 | 4.03E-06 | |
13829 | 50 | G/A | 125 | rs1114167326 | 0.2887 | None | gnomAD-4.0.0 | 6.84402E-07 | |
13829 | 50 | G/D | 125 | rs1114167326 | 0.2887 | None | gnomAD-4.0.0 | 6.84402E-07 | |
13829 | 50 | G/R | 125 | None | 0.2887 | None | gnomAD-4.0.0 | 6.84399E-07 | |
13829 | 50 | G/S | 125 | rs1157546543 | 0.2887 | None | gnomAD-4.0.0 | 2.0532E-06 | |
13830 | 51 | V/F | 127 | None | 0.4742 | None | gnomAD-4.0.0 | 6.84405E-07 | |
13830 | 51 | V/I | 127 | rs149059189 | 0.4742 | None | gnomAD-2.1.1 | 1.57289E-04 | |
13830 | 51 | V/I | 127 | rs149059189 | 0.4742 | None | gnomAD-3.1.2 | 4.01295E-04 | |
13830 | 51 | V/I | 127 | rs149059189 | 0.4742 | None | 1000 genomes | 1.99681E-04 | |
13830 | 51 | V/I | 127 | rs149059189 | 0.4742 | None | gnomAD-4.0.0 | 7.81032E-05 | |
13831 | 52 | I/T | 130 | rs2154230322 | 0.6692 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13831 | 52 | I/V | 130 | rs1223688724 | 0.6692 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13832 | 53 | G/S | 131 | rs2060400293 | 0.3719 | None | gnomAD-3.1.2 | 6.58E-06 | |
13832 | 53 | G/S | 131 | rs2060400293 | 0.3719 | None | gnomAD-4.0.0 | 6.57748E-06 | |
13833 | 54 | L/F | 134 | rs1288508073 | 0.3287 | None | gnomAD-3.1.2 | 6.58E-06 | |
13833 | 54 | L/F | 134 | rs1288508073 | 0.3287 | None | gnomAD-4.0.0 | 2.03017E-06 | |
13833 | 54 | L/M | 134 | None | 0.3287 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13835 | 56 | R/Q | 136 | rs727504539 | 0.1521 | None | gnomAD-2.1.1 | 4.03E-06 | |
13835 | 56 | R/Q | 136 | rs727504539 | 0.1521 | None | gnomAD-4.0.0 | 1.09506E-05 | |
13835 | 56 | R/W | 136 | rs886055278 | 0.1521 | None | gnomAD-4.0.0 | 1.36882E-05 | |
13836 | 57 | A/S | 137 | rs1326857970 | 0.1646 | None | gnomAD-2.1.1 | 4.03E-06 | |
13836 | 57 | A/S | 137 | rs1326857970 | 0.1646 | None | gnomAD-4.0.0 | 1.59232E-06 | |
13837 | 58 | L/V | 138 | None | 0.1010 | None | gnomAD-4.0.0 | 6.84402E-07 | |
13839 | 60 | I/M | 140 | None | 0.1101 | None | gnomAD-4.0.0 | 1.36883E-06 | |
13839 | 60 | I/N | 140 | None | 0.1101 | None | gnomAD-4.0.0 | 2.40064E-06 | |
13839 | 60 | I/V | 140 | rs1433829695 | 0.1101 | None | gnomAD-2.1.1 | 4.03E-06 | |
13839 | 60 | I/V | 140 | rs1433829695 | 0.1101 | None | gnomAD-3.1.2 | 6.58E-06 | |
13839 | 60 | I/V | 140 | rs1433829695 | 0.1101 | None | gnomAD-4.0.0 | 3.71927E-06 | |
13840 | 61 | N/S | 141 | rs760261561 | 0.4694 | None | gnomAD-2.1.1 | 8.05E-06 | |
13840 | 61 | N/S | 141 | rs760261561 | 0.4694 | None | gnomAD-4.0.0 | 6.84398E-06 | |
13840 | 61 | N/Y | 141 | rs763460143 | 0.4694 | None | gnomAD-2.1.1 | 4.03E-06 | |
13840 | 61 | N/Y | 141 | rs763460143 | 0.4694 | None | gnomAD-4.0.0 | 1.5923E-06 | |
13841 | 62 | D/N | 143 | rs201257644 | 0.6849 | None | gnomAD-2.1.1 | 3.46922E-04 | |
13841 | 62 | D/N | 143 | rs201257644 | 0.6849 | None | gnomAD-3.1.2 | 4.07793E-04 | |
13841 | 62 | D/N | 143 | rs201257644 | 0.6849 | None | 1000 genomes | 3.99361E-04 | |
13841 | 62 | D/N | 143 | rs201257644 | 0.6849 | None | gnomAD-4.0.0 | 6.366E-04 | |
13841 | 62 | D/Y | 143 | None | 0.6849 | None | gnomAD-4.0.0 | 6.84415E-07 | |
13842 | 63 | A/T | 144 | None | 0.1187 | None | gnomAD-4.0.0 | 6.8441E-07 | |
13842 | 63 | A/V | 144 | rs1231962760 | 0.1187 | None | gnomAD-2.1.1 | 4.03E-06 | |
13842 | 63 | A/V | 144 | rs1231962760 | 0.1187 | None | gnomAD-4.0.0 | 1.5924E-06 | |
13843 | 64 | D/E | 145 | rs767535967 | 0.2668 | None | gnomAD-2.1.1 | 4.03E-06 | |
13843 | 64 | D/E | 145 | rs767535967 | 0.2668 | None | gnomAD-4.0.0 | 1.59236E-06 | |
13843 | 64 | D/G | 145 | rs1482431359 | 0.2668 | None | gnomAD-4.0.0 | 3.1847E-06 | |
13843 | 64 | D/H | 145 | None | 0.2668 | None | gnomAD-4.0.0 | 4.80129E-06 | |
13845 | 66 | T/R | 148 | None | 0.5737 | None | gnomAD-4.0.0 | 1.36887E-06 | |
13847 | 68 | A/V | 151 | rs1439068447 | 0.2403 | None | gnomAD-2.1.1 | 4.03E-06 | |
13847 | 68 | A/V | 151 | rs1439068447 | 0.2403 | None | gnomAD-3.1.2 | 6.58E-06 | |
13847 | 68 | A/V | 151 | rs1439068447 | 0.2403 | None | gnomAD-4.0.0 | 1.05396E-05 | |
13848 | 69 | G/E | 152 | None | 0.1754 | None | gnomAD-4.0.0 | 1.36902E-06 | |
13849 | 70 | T/I | 153 | rs759603723 | 0.4123 | None | gnomAD-2.1.1 | 4.03E-06 | |
13849 | 70 | T/I | 153 | rs759603723 | 0.4123 | None | gnomAD-4.0.0 | 1.59286E-06 | |
13850 | 71 | Y/F | 154 | None | 0.1469 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13850 | 71 | Y/H | 154 | rs774281208 | 0.1469 | None | gnomAD-2.1.1 | 4.03E-06 | |
13850 | 71 | Y/H | 154 | rs774281208 | 0.1469 | None | gnomAD-4.0.0 | 1.59305E-06 | |
13851 | 72 | T/A | 155 | rs1346163990 | 0.2106 | None | gnomAD-2.1.1 | 3.19E-05 | |
13851 | 72 | T/A | 155 | rs1346163990 | 0.2106 | None | gnomAD-3.1.2 | 6.58E-06 | |
13851 | 72 | T/A | 155 | rs1346163990 | 0.2106 | None | gnomAD-4.0.0 | 6.57514E-06 | |
13851 | 72 | T/P | 155 | rs1346163990 | 0.2106 | None | gnomAD-2.1.1 | 4.03E-06 | |
13851 | 72 | T/R | 155 | rs1282841965 | 0.2106 | None | gnomAD-2.1.1 | 8.06E-06 | |
13851 | 72 | T/R | 155 | rs1282841965 | 0.2106 | None | gnomAD-4.0.0 | 3.18665E-06 | |
13854 | 75 | V/A | 158 | rs1180677279 | 0.1470 | None | gnomAD-3.1.2 | 6.58E-06 | |
13854 | 75 | V/A | 158 | rs1180677279 | 0.1470 | None | gnomAD-4.0.0 | 1.86197E-06 | |
13854 | 75 | V/M | 158 | None | 0.1470 | None | gnomAD-4.0.0 | 1.3702E-06 | |
13855 | 76 | E/K | 159 | rs780563642 | 0.5259 | None | gnomAD-2.1.1 | 8.09E-06 | |
13855 | 76 | E/K | 159 | rs780563642 | 0.5259 | None | gnomAD-3.1.2 | 6.58E-06 | |
13855 | 76 | E/K | 159 | rs780563642 | 0.5259 | None | gnomAD-4.0.0 | 9.31086E-06 | |
13856 | 77 | N/K | 161 | rs559906667 | 1.0186 | None | gnomAD-4.0.0 | 2.743E-06 | |
13856 | 77 | N/S | 161 | rs369638798 | 1.0186 | None | gnomAD-2.1.1 | 4.05E-06 | |
13856 | 77 | N/S | 161 | rs369638798 | 1.0186 | None | gnomAD-4.0.0 | 1.59917E-06 | |
13857 | 78 | A/T | 162 | rs144963490 | 0.2300 | None | gnomAD-2.1.1 | 3.25E-05 | |
13857 | 78 | A/T | 162 | rs144963490 | 0.2300 | None | gnomAD-3.1.2 | 1.97E-05 | |
13857 | 78 | A/T | 162 | rs144963490 | 0.2300 | None | 1000 genomes | 3.99361E-04 | |
13857 | 78 | A/T | 162 | rs144963490 | 0.2300 | None | gnomAD-4.0.0 | 3.60309E-05 | |
13857 | 78 | A/V | 162 | rs1308553972 | 0.2300 | None | gnomAD-2.1.1 | 4.05E-06 | |
13857 | 78 | A/V | 162 | rs1308553972 | 0.2300 | None | gnomAD-4.0.0 | 1.60055E-06 | |
13858 | 79 | N/S | 163 | rs529917511 | 1.0522 | None | gnomAD-2.1.1 | 4.05E-06 | |
13858 | 79 | N/S | 163 | rs529917511 | 1.0522 | None | gnomAD-3.1.2 | 6.57E-06 | |
13858 | 79 | N/S | 163 | rs529917511 | 1.0522 | None | 1000 genomes | 1.99681E-04 | |
13858 | 79 | N/S | 163 | rs529917511 | 1.0522 | None | gnomAD-4.0.0 | 6.56978E-06 | |
13859 | 80 | N/K | 164 | None | 1.0154 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13861 | 82 | E/A | 168 | rs1553746267 | 0.5326 | None | gnomAD-4.0.0 | 3.20883E-06 | |
13862 | 83 | C/S | 169 | None | 0.1213 | None | gnomAD-4.0.0 | 4.82402E-06 | |
13864 | 85 | S/P | 172 | None | 0.1140 | None | gnomAD-4.0.0 | 1.37961E-06 | |
13865 | 86 | C/G | 173 | None | 0.2905 | None | gnomAD-4.0.0 | 6.90824E-07 | |
13865 | 86 | C/S | 173 | None | 0.2905 | None | gnomAD-4.0.0 | 1.63059E-06 | |
13866 | 87 | V/I | 174 | rs375474669 | 0.1158 | None | gnomAD-2.1.1 | 9.27E-05 | |
13866 | 87 | V/I | 174 | rs375474669 | 0.1158 | None | gnomAD-3.1.2 | 9.21E-05 | |
13866 | 87 | V/I | 174 | rs375474669 | 0.1158 | None | 1000 genomes | 1.99681E-04 | |
13866 | 87 | V/I | 174 | rs375474669 | 0.1158 | None | gnomAD-4.0.0 | 7.8321E-05 | |
13866 | 87 | V/L | 174 | rs375474669 | 0.1158 | None | gnomAD-2.1.1 | 4.2E-06 | |
13866 | 87 | V/L | 174 | rs375474669 | 0.1158 | None | gnomAD-4.0.0 | 1.3852E-06 | |
13867 | 88 | K/E | 175 | rs1406730478 | 0.4028 | None | gnomAD-2.1.1 | 4.2E-06 | |
13867 | 88 | K/E | 175 | rs1406730478 | 0.4028 | None | gnomAD-4.0.0 | 2.0779E-06 | |
13867 | 88 | K/I | 175 | rs2060384934 | 0.4028 | None | gnomAD-3.1.2 | 6.58E-06 | |
13867 | 88 | K/I | 175 | rs2060384934 | 0.4028 | None | gnomAD-4.0.0 | 6.57609E-06 | |
13868 | 89 | V/A | 177 | None | 0.4677 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13868 | 89 | V/L | 177 | None | 0.4677 | None | gnomAD-4.0.0 | 1.64207E-06 |