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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
24717 | 2 | A/P | 2 | rs1243147358 | 0.2996 | None | gnomAD-2.1.1 | 4.04E-06 | |
24717 | 2 | A/P | 2 | rs1243147358 | 0.2996 | None | gnomAD-3.1.2 | 1.97E-05 | |
24717 | 2 | A/P | 2 | rs1243147358 | 0.2996 | None | gnomAD-4.0.0 | 5.12824E-06 | |
24718 | 3 | F/L | 3 | rs773802084 | 0.2540 | None | gnomAD-2.1.1 | 8.07E-06 | |
24718 | 3 | F/L | 3 | rs773802084 | 0.2540 | None | gnomAD-4.0.0 | 3.18498E-06 | |
24718 | 3 | F/S | 3 | None | 0.2540 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24719 | 4 | K/N | 4 | rs1708348947 | 0.5572 | None | gnomAD-3.1.2 | 6.58E-06 | |
24719 | 4 | K/N | 4 | rs1708348947 | 0.5572 | None | gnomAD-4.0.0 | 6.57981E-06 | |
24720 | 5 | L/F | 5 | None | 0.3533 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24723 | 8 | N/S | 9 | rs1708346317 | 0.6248 | None | gnomAD-4.0.0 | 2.40064E-06 | |
24724 | 9 | T/A | 11 | None | 0.3687 | None | gnomAD-4.0.0 | 1.59237E-06 | |
24724 | 9 | T/I | 11 | rs528199512 | 0.3687 | None | gnomAD-3.1.2 | 6.57E-06 | |
24724 | 9 | T/I | 11 | rs528199512 | 0.3687 | None | 1000 genomes | 1.99681E-04 | |
24724 | 9 | T/I | 11 | rs528199512 | 0.3687 | None | gnomAD-4.0.0 | 6.56849E-06 | |
24726 | 11 | T/A | 14 | rs1559408209 | 0.4818 | None | gnomAD-2.1.1 | 4.03E-06 | |
24726 | 11 | T/A | 14 | rs1559408209 | 0.4818 | None | gnomAD-4.0.0 | 4.1065E-06 | |
24726 | 11 | T/I | 14 | rs975263285 | 0.4818 | None | gnomAD-4.0.0 | 9.58161E-06 | |
24726 | 11 | T/S | 14 | None | 0.4818 | None | gnomAD-4.0.0 | 6.84417E-07 | |
24727 | 12 | V/A | 16 | rs769619709 | 0.1872 | None | gnomAD-2.1.1 | 4.03E-06 | |
24727 | 12 | V/A | 16 | rs769619709 | 0.1872 | None | gnomAD-4.0.0 | 3.18468E-06 | |
24727 | 12 | V/I | 16 | rs773070815 | 0.1872 | None | gnomAD-2.1.1 | 4.03E-06 | |
24727 | 12 | V/I | 16 | rs773070815 | 0.1872 | None | gnomAD-4.0.0 | 6.84411E-07 | |
24727 | 12 | V/L | 16 | rs773070815 | 0.1872 | None | gnomAD-4.0.0 | 2.73764E-06 | |
24728 | 13 | L/P | 18 | rs1708337255 | 0.7556 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24729 | 14 | A/T | 23 | rs372007344 | 0.5266 | None | gnomAD-2.1.1 | 2.51E-05 | |
24729 | 14 | A/T | 23 | rs372007344 | 0.5266 | None | gnomAD-3.1.2 | 1.97E-05 | |
24729 | 14 | A/T | 23 | rs372007344 | 0.5266 | None | gnomAD-4.0.0 | 1.36376E-05 | |
24729 | 14 | A/V | 23 | rs1162562703 | 0.5266 | None | gnomAD-2.1.1 | 4.03E-06 | |
24729 | 14 | A/V | 23 | rs1162562703 | 0.5266 | None | gnomAD-4.0.0 | 3.18464E-06 | |
24730 | 15 | G/D | 24 | rs781046518 | 0.3516 | None | gnomAD-3.1.2 | 1.32E-05 | |
24730 | 15 | G/D | 24 | rs781046518 | 0.3516 | None | gnomAD-4.0.0 | 6.81912E-06 | |
24730 | 15 | G/V | 24 | None | 0.3516 | None | gnomAD-4.0.0 | 6.84434E-07 | |
24731 | 16 | E/G | 25 | rs76565211 | 0.5641 | None | gnomAD-4.0.0 | 3.18789E-06 | |
24731 | 16 | E/K | 25 | rs186780326 | 0.5641 | None | gnomAD-2.1.1 | 4.04E-06 | |
24731 | 16 | E/K | 25 | rs186780326 | 0.5641 | None | gnomAD-3.1.2 | 6.58E-06 | |
24731 | 16 | E/K | 25 | rs186780326 | 0.5641 | None | 1000 genomes | 1.99681E-04 | |
24731 | 16 | E/K | 25 | rs186780326 | 0.5641 | None | gnomAD-4.0.0 | 4.33916E-06 | |
24732 | 17 | D/E | 26 | rs764541017 | 0.6074 | None | gnomAD-4.0.0 | 2.05349E-06 | |
24732 | 17 | D/G | 26 | None | 0.6074 | None | gnomAD-4.0.0 | 1.5927E-06 | |
24732 | 17 | D/H | 26 | rs754089001 | 0.6074 | None | gnomAD-2.1.1 | 4.04E-06 | |
24732 | 17 | D/H | 26 | rs754089001 | 0.6074 | None | gnomAD-4.0.0 | 6.8451E-07 | |
24732 | 17 | D/N | 26 | None | 0.6074 | None | gnomAD-4.0.0 | 1.36902E-06 | |
24733 | 18 | L/Q | 28 | None | 0.2504 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24734 | 19 | K/E | 29 | rs546829047 | 0.7598 | None | gnomAD-2.1.1 | 4.04E-06 | |
24734 | 19 | K/E | 29 | rs546829047 | 0.7598 | None | gnomAD-3.1.2 | 6.57E-06 | |
24734 | 19 | K/E | 29 | rs546829047 | 0.7598 | None | 1000 genomes | 1.99681E-04 | |
24734 | 19 | K/E | 29 | rs546829047 | 0.7598 | None | gnomAD-4.0.0 | 5.12727E-06 | |
24734 | 19 | K/N | 29 | None | 0.7598 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24735 | 20 | V/A | 30 | rs993249767 | 0.1671 | None | gnomAD-3.1.2 | 6.58E-06 | |
24735 | 20 | V/A | 30 | rs993249767 | 0.1671 | None | gnomAD-4.0.0 | 1.23985E-06 | |
24736 | 21 | D/G | 31 | rs762510108 | 0.5888 | None | gnomAD-2.1.1 | 3.19E-05 | |
24736 | 21 | D/G | 31 | rs762510108 | 0.5888 | None | gnomAD-3.1.2 | 1.32E-05 | |
24736 | 21 | D/G | 31 | rs762510108 | 0.5888 | None | gnomAD-4.0.0 | 2.47967E-06 | |
24738 | 23 | P/L | 34 | None | 0.2473 | None | gnomAD-4.0.0 | 1.59246E-06 | |
24738 | 23 | P/R | 34 | None | 0.2473 | None | gnomAD-4.0.0 | 1.59246E-06 | |
24738 | 23 | P/T | 34 | None | 0.2473 | None | gnomAD-4.0.0 | 1.59252E-06 | |
24739 | 24 | F/L | 35 | None | 0.1282 | None | gnomAD-4.0.0 | 1.59234E-06 | |
24740 | 25 | I/T | 38 | rs773198304 | 0.4615 | None | gnomAD-2.1.1 | 8.07E-06 | |
24740 | 25 | I/T | 38 | rs773198304 | 0.4615 | None | gnomAD-4.0.0 | 3.18458E-06 | |
24742 | 27 | R/C | 41 | rs369489704 | 0.4357 | None | gnomAD-2.1.1 | 3.23E-05 | |
24742 | 27 | R/C | 41 | rs369489704 | 0.4357 | None | gnomAD-3.1.2 | 1.32E-05 | |
24742 | 27 | R/C | 41 | rs369489704 | 0.4357 | None | gnomAD-4.0.0 | 1.54978E-05 | |
24742 | 27 | R/H | 41 | rs761823581 | 0.4357 | None | gnomAD-2.1.1 | 1.79E-05 | |
24742 | 27 | R/H | 41 | rs761823581 | 0.4357 | None | gnomAD-3.1.2 | 3.95E-05 | |
24742 | 27 | R/H | 41 | rs761823581 | 0.4357 | None | gnomAD-4.0.0 | 1.3019E-05 | |
24744 | 29 | T/I | 43 | rs1708319578 | 0.6482 | None | gnomAD-4.0.0 | 8.21241E-06 | |
24744 | 29 | T/P | 43 | rs1359036046 | 0.6482 | None | gnomAD-3.1.2 | 6.58E-06 | |
24744 | 29 | T/P | 43 | rs1359036046 | 0.6482 | None | gnomAD-4.0.0 | 1.23976E-06 | |
24744 | 29 | T/S | 43 | rs1359036046 | 0.6482 | None | gnomAD-2.1.1 | 4.03E-06 | |
24744 | 29 | T/S | 43 | rs1359036046 | 0.6482 | None | gnomAD-4.0.0 | 6.8438E-07 | |
24745 | 30 | P/S | 44 | rs1708317889 | 0.1815 | None | gnomAD-3.1.2 | 6.58E-06 | |
24747 | 32 | V/A | 46 | None | 0.3403 | None | gnomAD-4.0.0 | 2.05306E-06 | |
24747 | 32 | V/G | 46 | None | 0.3403 | None | gnomAD-4.0.0 | 6.84353E-07 | |
24747 | 32 | V/I | 46 | rs776245661 | 0.3403 | None | gnomAD-2.1.1 | 8.06E-06 | |
24747 | 32 | V/I | 46 | rs776245661 | 0.3403 | None | gnomAD-4.0.0 | 6.84351E-06 | |
24748 | 33 | T/I | 47 | rs768606900 | 0.4861 | None | gnomAD-2.1.1 | 4.03E-06 | |
24748 | 33 | T/I | 47 | rs768606900 | 0.4861 | None | gnomAD-3.1.2 | 6.58E-06 | |
24748 | 33 | T/I | 47 | rs768606900 | 0.4861 | None | gnomAD-4.0.0 | 5.57875E-06 | |
24751 | 36 | K/R | 50 | rs1280335155 | 0.2138 | None | gnomAD-2.1.1 | 4.03E-06 | |
24751 | 36 | K/R | 50 | rs1280335155 | 0.2138 | None | gnomAD-4.0.0 | 1.59196E-06 | |
24752 | 37 | D/E | 51 | None | 0.5169 | None | gnomAD-4.0.0 | 1.5919E-06 | |
24752 | 37 | D/G | 51 | rs775906538 | 0.5169 | None | gnomAD-2.1.1 | 4.03E-06 | |
24752 | 37 | D/G | 51 | rs775906538 | 0.5169 | None | gnomAD-4.0.0 | 1.59189E-06 | |
24752 | 37 | D/N | 51 | None | 0.5169 | None | gnomAD-4.0.0 | 7.52769E-06 | |
24752 | 37 | D/Y | 51 | rs747206654 | 0.5169 | None | gnomAD-2.1.1 | 8.05E-06 | |
24752 | 37 | D/Y | 51 | rs747206654 | 0.5169 | None | gnomAD-3.1.2 | 6.58E-06 | |
24752 | 37 | D/Y | 51 | rs747206654 | 0.5169 | None | gnomAD-4.0.0 | 1.8595E-06 | |
24753 | 38 | N/K | 52 | None | 0.9511 | None | gnomAD-4.0.0 | 6.84323E-07 | |
24754 | 39 | V/A | 55 | rs12616029 | 0.5449 | None | gnomAD-2.1.1 | 8.05E-06 | |
24754 | 39 | V/A | 55 | rs12616029 | 0.5449 | None | gnomAD-4.0.0 | 9.55107E-06 | |
24754 | 39 | V/I | 55 | None | 0.5449 | None | gnomAD-4.0.0 | 1.5919E-06 | |
24755 | 40 | P/S | 56 | rs1708309108 | 0.5370 | None | gnomAD-4.0.0 | 5.47455E-06 | |
24755 | 40 | P/T | 56 | None | 0.5370 | None | gnomAD-4.0.0 | 2.05296E-06 | |
24757 | 42 | K/R | 59 | None | 0.8446 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24758 | 43 | Q/E | 70 | rs1015935551 | 0.5866 | None | gnomAD-3.1.2 | 6.58E-06 | |
24758 | 43 | Q/E | 70 | rs1015935551 | 0.5866 | None | gnomAD-4.0.0 | 6.57592E-06 | |
24758 | 43 | Q/H | 70 | rs1464894688 | 0.5866 | None | gnomAD-2.1.1 | 8.05E-06 | |
24758 | 43 | Q/H | 70 | rs1464894688 | 0.5866 | None | gnomAD-4.0.0 | 6.1588E-06 | |
24759 | 44 | T/I | 73 | rs1421105301 | 0.3423 | None | gnomAD-2.1.1 | 4.03E-06 | |
24759 | 44 | T/I | 73 | rs1421105301 | 0.3423 | None | gnomAD-4.0.0 | 1.59175E-06 | |
24760 | 45 | T/S | 109 | rs762222770 | 1.0228 | None | gnomAD-4.0.0 | 4.77514E-06 | |
24761 | 46 | R/T | 115 | rs1708301817 | 0.3118 | None | gnomAD-4.0.0 | 2.0529E-06 | |
24763 | 48 | N/K | 122 | rs749832389 | 0.4274 | None | gnomAD-2.1.1 | 4.03E-06 | |
24763 | 48 | N/K | 122 | rs749832389 | 0.4274 | None | gnomAD-4.0.0 | 1.59171E-06 | |
24764 | 49 | A/E | 123 | None | 0.2499 | None | gnomAD-4.0.0 | 1.59172E-06 | |
24765 | 50 | E/D | 125 | rs756519457 | 0.6736 | None | gnomAD-2.1.1 | 8.05E-06 | |
24765 | 50 | E/D | 125 | rs756519457 | 0.6736 | None | gnomAD-3.1.2 | 1.32E-05 | |
24765 | 50 | E/D | 125 | rs756519457 | 0.6736 | None | gnomAD-4.0.0 | 3.84453E-06 | |
24765 | 50 | E/G | 125 | rs963867892 | 0.6736 | None | gnomAD-4.0.0 | 6.00161E-06 | |
24766 | 51 | S/C | 127 | None | 0.4755 | None | gnomAD-4.0.0 | 2.40064E-06 | |
24767 | 52 | T/A | 130 | None | 0.4838 | None | gnomAD-4.0.0 | 1.5917E-06 | |
24769 | 54 | N/D | 134 | rs372787601 | 0.5540 | None | gnomAD-2.1.1 | 8.05E-05 | |
24769 | 54 | N/D | 134 | rs372787601 | 0.5540 | None | gnomAD-3.1.2 | 5.92E-05 | |
24769 | 54 | N/D | 134 | rs372787601 | 0.5540 | None | gnomAD-4.0.0 | 6.13541E-05 | |
24769 | 54 | N/S | 134 | rs1032887625 | 0.5540 | None | gnomAD-2.1.1 | 8.06E-06 | |
24769 | 54 | N/S | 134 | rs1032887625 | 0.5540 | None | gnomAD-3.1.2 | 6.57E-06 | |
24769 | 54 | N/S | 134 | rs1032887625 | 0.5540 | None | gnomAD-4.0.0 | 2.47915E-06 | |
24775 | 60 | I/V | 140 | rs766089174 | 0.1651 | None | gnomAD-2.1.1 | 4.03E-06 | |
24775 | 60 | I/V | 140 | rs766089174 | 0.1651 | None | gnomAD-4.0.0 | 9.58031E-06 | |
24776 | 61 | K/R | 141 | rs530190665 | 0.5688 | None | gnomAD-2.1.1 | 2.42E-05 | |
24776 | 61 | K/R | 141 | rs530190665 | 0.5688 | None | gnomAD-3.1.2 | 6.57E-06 | |
24776 | 61 | K/R | 141 | rs530190665 | 0.5688 | None | 1000 genomes | 1.99681E-04 | |
24776 | 61 | K/R | 141 | rs530190665 | 0.5688 | None | gnomAD-4.0.0 | 7.43707E-06 | |
24777 | 62 | D/G | 143 | None | 0.7098 | None | gnomAD-4.0.0 | 1.59276E-06 | |
24778 | 63 | A/P | 144 | rs761619474 | 0.1566 | None | gnomAD-4.0.0 | 6.84363E-07 | |
24778 | 63 | A/S | 144 | None | 0.1566 | None | gnomAD-4.0.0 | 1.36873E-06 | |
24778 | 63 | A/T | 144 | rs761619474 | 0.1566 | None | gnomAD-2.1.1 | 2.02E-05 | |
24778 | 63 | A/T | 144 | rs761619474 | 0.1566 | None | gnomAD-3.1.2 | 6.58E-06 | |
24778 | 63 | A/T | 144 | rs761619474 | 0.1566 | None | gnomAD-4.0.0 | 1.48769E-05 | |
24778 | 63 | A/V | 144 | rs1708284280 | 0.1566 | None | gnomAD-3.1.2 | 6.58E-06 | |
24778 | 63 | A/V | 144 | rs1708284280 | 0.1566 | None | gnomAD-4.0.0 | 2.56345E-06 | |
24780 | 65 | R/Q | 146 | rs776673912 | 0.7956 | None | gnomAD-2.1.1 | 1.61E-05 | |
24780 | 65 | R/Q | 146 | rs776673912 | 0.7956 | None | gnomAD-3.1.2 | 6.58E-06 | |
24780 | 65 | R/Q | 146 | rs776673912 | 0.7956 | None | gnomAD-4.0.0 | 8.67764E-06 | |
24781 | 66 | E/A | 148 | None | 0.6755 | None | gnomAD-4.0.0 | 1.59184E-06 | |
24781 | 66 | E/D | 148 | None | 0.6755 | None | gnomAD-4.0.0 | 1.36864E-06 | |
24782 | 67 | D/E | 149 | rs1463579400 | 0.2345 | None | gnomAD-3.1.2 | 1.32E-05 | |
24782 | 67 | D/E | 149 | rs1463579400 | 0.2345 | None | gnomAD-4.0.0 | 5.1274E-06 | |
24782 | 67 | D/G | 149 | rs1708279198 | 0.2345 | None | gnomAD-3.1.2 | 6.58E-06 | |
24782 | 67 | D/G | 149 | rs1708279198 | 0.2345 | None | gnomAD-4.0.0 | 6.57583E-06 | |
24784 | 69 | G/D | 152 | None | 0.2214 | None | gnomAD-4.0.0 | 4.77613E-06 | |
24787 | 72 | V/E | 155 | None | 0.2541 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24789 | 74 | K/E | 157 | rs374382352 | 0.2651 | None | gnomAD-2.1.1 | 4.03E-06 | |
24791 | 76 | T/I | 159 | rs1055906361 | 0.3458 | None | gnomAD-3.1.2 | 6.58E-06 | |
24791 | 76 | T/I | 159 | rs1055906361 | 0.3458 | None | gnomAD-4.0.0 | 3.84537E-06 | |
24791 | 76 | T/S | 159 | rs1055906361 | 0.3458 | None | gnomAD-2.1.1 | 4.03E-06 | |
24791 | 76 | T/S | 159 | rs1055906361 | 0.3458 | None | gnomAD-3.1.2 | 6.58E-06 | |
24791 | 76 | T/S | 159 | rs1055906361 | 0.3458 | None | gnomAD-4.0.0 | 3.84537E-06 | |
24793 | 78 | S/L | 162 | rs766741890 | 0.6908 | None | gnomAD-2.1.1 | 3.23E-05 | |
24793 | 78 | S/L | 162 | rs766741890 | 0.6908 | None | gnomAD-3.1.2 | 1.97E-05 | |
24793 | 78 | S/L | 162 | rs766741890 | 0.6908 | None | gnomAD-4.0.0 | 1.79762E-05 | |
24794 | 79 | A/P | 163 | None | 0.2540 | None | gnomAD-4.0.0 | 6.84391E-07 | |
24794 | 79 | A/S | 163 | None | 0.2540 | None | gnomAD-4.0.0 | 6.84391E-07 | |
24794 | 79 | A/V | 163 | None | 0.2540 | None | gnomAD-4.0.0 | 4.80129E-06 | |
24795 | 80 | G/D | 164 | rs1708265483 | 0.2397 | None | gnomAD-3.1.2 | 6.58E-06 | |
24795 | 80 | G/D | 164 | rs1708265483 | 0.2397 | None | gnomAD-4.0.0 | 6.57661E-06 | |
24795 | 80 | G/S | 164 | None | 0.2397 | None | gnomAD-4.0.0 | 1.59205E-06 | |
24796 | 81 | E/D | 165 | None | 0.4218 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24796 | 81 | E/Q | 165 | None | 0.4218 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24797 | 82 | A/G | 166 | None | 0.1321 | None | gnomAD-4.0.0 | 1.36869E-06 | |
24797 | 82 | A/S | 166 | None | 0.1321 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24798 | 83 | I/T | 168 | rs771082157 | 0.4176 | None | gnomAD-2.1.1 | 7.16E-06 | |
24798 | 83 | I/T | 168 | rs771082157 | 0.4176 | None | gnomAD-3.1.2 | 1.32E-05 | |
24798 | 83 | I/T | 168 | rs771082157 | 0.4176 | None | gnomAD-4.0.0 | 6.40827E-06 | |
24802 | 87 | N/H | 173 | None | 0.3852 | None | gnomAD-4.0.0 | 1.5919E-06 | |
24802 | 87 | N/Y | 173 | rs1178547441 | 0.3852 | None | gnomAD-2.1.1 | 4.03E-06 | |
24802 | 87 | N/Y | 173 | rs1178547441 | 0.3852 | None | gnomAD-4.0.0 | 1.5919E-06 | |
24803 | 88 | V/A | 174 | None | 0.1883 | None | gnomAD-4.0.0 | 1.20032E-06 | |
24803 | 88 | V/I | 174 | None | 0.1883 | None | gnomAD-4.0.0 | 1.59193E-06 | |
24804 | 89 | I/T | 175 | None | 0.3803 | None | gnomAD-4.0.0 | 1.36863E-06 | |
24804 | 89 | I/V | 175 | rs544547448 | 0.3803 | None | gnomAD-2.1.1 | 7.16E-06 | |
24804 | 89 | I/V | 175 | rs544547448 | 0.3803 | None | gnomAD-3.1.2 | 1.31E-05 | |
24804 | 89 | I/V | 175 | rs544547448 | 0.3803 | None | 1000 genomes | 1.99681E-04 | |
24804 | 89 | I/V | 175 | rs544547448 | 0.3803 | None | gnomAD-4.0.0 | 6.56935E-06 | |
24805 | 90 | V/F | 177 | None | 0.2628 | None | gnomAD-4.0.0 | 4.79029E-06 | |
24805 | 90 | V/G | 177 | rs1205583456 | 0.2628 | None | gnomAD-2.1.1 | 4.03E-06 | |
24805 | 90 | V/I | 177 | rs371306826 | 0.2628 | None | gnomAD-2.1.1 | 5.37E-05 | |
24805 | 90 | V/I | 177 | rs371306826 | 0.2628 | None | gnomAD-3.1.2 | 1.97E-05 | |
24805 | 90 | V/I | 177 | rs371306826 | 0.2628 | None | gnomAD-4.0.0 | 2.91331E-05 |