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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2707 | 1 | V/I | 1 | rs376758159 | 0.5412 | None | gnomAD-2.1.1 | 1.79E-05 | |
2707 | 1 | V/I | 1 | rs376758159 | 0.5412 | None | gnomAD-3.1.2 | 1.97E-05 | |
2707 | 1 | V/I | 1 | rs376758159 | 0.5412 | None | gnomAD-4.0.0 | 9.00518E-06 | |
2709 | 3 | I/S | 3 | rs2091328773 | 0.2118 | None | gnomAD-3.1.2 | 6.57E-06 | |
2709 | 3 | I/S | 3 | rs2091328773 | 0.2118 | None | gnomAD-4.0.0 | 6.56978E-06 | |
2711 | 5 | K/E | 5 | None | 0.4801 | None | gnomAD-4.0.0 | 2.40065E-06 | |
2712 | 6 | T/S | 7 | rs886042774 | 0.5531 | None | gnomAD-4.0.0 | 6.84641E-07 | |
2715 | 9 | N/S | 11 | None | 0.6351 | None | gnomAD-4.0.0 | 6.84387E-07 | |
2716 | 10 | L/P | 13 | rs752870590 | 0.2351 | None | gnomAD-2.1.1 | 3.99E-06 | |
2716 | 10 | L/P | 13 | rs752870590 | 0.2351 | None | gnomAD-3.1.2 | 6.57E-06 | |
2716 | 10 | L/P | 13 | rs752870590 | 0.2351 | None | gnomAD-4.0.0 | 5.12554E-06 | |
2717 | 11 | T/A | 14 | rs1478991790 | 0.4598 | None | gnomAD-4.0.0 | 1.59148E-06 | |
2717 | 11 | T/K | 14 | rs781565875 | 0.4598 | None | gnomAD-2.1.1 | 3.99E-06 | |
2718 | 12 | V/A | 16 | rs2091324546 | 0.1560 | None | gnomAD-4.0.0 | 1.59126E-06 | |
2719 | 13 | T/A | 18 | rs2091324218 | 0.1624 | None | gnomAD-3.1.2 | 6.57E-06 | |
2719 | 13 | T/A | 18 | rs2091324218 | 0.1624 | None | gnomAD-4.0.0 | 2.56179E-06 | |
2719 | 13 | T/S | 18 | None | 0.1624 | None | gnomAD-4.0.0 | 1.59114E-06 | |
2720 | 14 | E/G | 23 | rs755264814 | 0.2572 | None | gnomAD-2.1.1 | 3.99E-06 | |
2720 | 14 | E/G | 23 | rs755264814 | 0.2572 | None | gnomAD-4.0.0 | 4.78915E-06 | |
2722 | 16 | Q/K | 25 | None | 0.3463 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2722 | 16 | Q/P | 25 | None | 0.3463 | None | gnomAD-4.0.0 | 6.84147E-07 | |
2722 | 16 | Q/R | 25 | rs752069599 | 0.3463 | None | gnomAD-2.1.1 | 1.2E-05 | |
2723 | 17 | D/E | 26 | None | 0.3631 | None | gnomAD-4.0.0 | 1.59077E-06 | |
2723 | 17 | D/G | 26 | None | 0.3631 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2723 | 17 | D/N | 26 | rs766896377 | 0.3631 | None | gnomAD-2.1.1 | 7.97E-06 | |
2723 | 17 | D/N | 26 | rs766896377 | 0.3631 | None | gnomAD-4.0.0 | 2.80492E-05 | |
2724 | 18 | A/T | 28 | rs1346689247 | 0.1302 | None | gnomAD-2.1.1 | 3.98E-06 | |
2724 | 18 | A/T | 28 | rs1346689247 | 0.1302 | None | gnomAD-4.0.0 | 1.36825E-06 | |
2725 | 19 | V/A | 29 | rs146979556 | 0.3374 | None | gnomAD-2.1.1 | 7.97E-06 | |
2725 | 19 | V/A | 29 | rs146979556 | 0.3374 | None | gnomAD-4.0.0 | 1.59074E-06 | |
2725 | 19 | V/I | 29 | None | 0.3374 | None | gnomAD-4.0.0 | 4.80129E-06 | |
2726 | 20 | F/L | 30 | None | 0.1006 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2727 | 21 | T/A | 31 | None | 0.4617 | None | gnomAD-4.0.0 | 1.36817E-06 | |
2729 | 23 | E/D | 34 | None | 0.1508 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2729 | 23 | E/K | 34 | rs763702243 | 0.1508 | None | gnomAD-2.1.1 | 1.06E-05 | |
2729 | 23 | E/K | 34 | rs763702243 | 0.1508 | None | gnomAD-3.1.2 | 8.54E-05 | |
2729 | 23 | E/K | 34 | rs763702243 | 0.1508 | None | gnomAD-4.0.0 | 2.17715E-05 | |
2730 | 24 | L/P | 35 | None | 0.1111 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2731 | 25 | T/A | 38 | rs2091318582 | 0.2971 | None | gnomAD-4.0.0 | 1.59055E-06 | |
2731 | 25 | T/I | 38 | None | 0.2971 | None | gnomAD-4.0.0 | 1.59057E-06 | |
2732 | 26 | H/Y | 40 | None | 0.6569 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2733 | 27 | P/S | 41 | rs1407570813 | 0.4906 | None | gnomAD-2.1.1 | 3.19E-05 | |
2733 | 27 | P/S | 41 | rs1407570813 | 0.4906 | None | gnomAD-3.1.2 | 6.58E-06 | |
2733 | 27 | P/S | 41 | rs1407570813 | 0.4906 | None | gnomAD-4.0.0 | 6.57713E-06 | |
2734 | 28 | N/D | 42 | rs775219028 | 0.9104 | None | gnomAD-2.1.1 | 7.96E-06 | |
2734 | 28 | N/D | 42 | rs775219028 | 0.9104 | None | gnomAD-4.0.0 | 1.36815E-06 | |
2734 | 28 | N/H | 42 | rs775219028 | 0.9104 | None | gnomAD-2.1.1 | 3.98E-06 | |
2734 | 28 | N/H | 42 | rs775219028 | 0.9104 | None | gnomAD-4.0.0 | 6.84075E-07 | |
2734 | 28 | N/K | 42 | None | 0.9104 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2735 | 29 | V/A | 43 | rs1352413380 | 0.2748 | None | gnomAD-2.1.1 | 3.98E-06 | |
2735 | 29 | V/A | 43 | rs1352413380 | 0.2748 | None | gnomAD-4.0.0 | 3.42038E-06 | |
2737 | 31 | G/R | 45 | rs2091316811 | 0.5027 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2737 | 31 | G/V | 45 | rs1308651047 | 0.5027 | None | gnomAD-2.1.1 | 3.98E-06 | |
2737 | 31 | G/V | 45 | rs1308651047 | 0.5027 | None | gnomAD-4.0.0 | 3.181E-06 | |
2738 | 32 | V/I | 46 | rs1340253990 | 0.2388 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2742 | 36 | K/Q | 50 | rs1357613078 | 0.1397 | None | gnomAD-2.1.1 | 3.98E-06 | |
2742 | 36 | K/Q | 50 | rs1357613078 | 0.1397 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2744 | 38 | G/A | 52 | rs556908341 | 0.4678 | None | gnomAD-2.1.1 | 2.66747E-04 | |
2744 | 38 | G/A | 52 | rs556908341 | 0.4678 | None | gnomAD-3.1.2 | 7.89E-05 | |
2744 | 38 | G/A | 52 | rs556908341 | 0.4678 | None | 1000 genomes | 5.99042E-04 | |
2744 | 38 | G/A | 52 | rs556908341 | 0.4678 | None | gnomAD-4.0.0 | 1.19569E-04 | |
2745 | 39 | V/D | 55 | rs759392982 | 0.6361 | None | gnomAD-2.1.1 | 3.98E-06 | |
2745 | 39 | V/D | 55 | rs759392982 | 0.6361 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2745 | 39 | V/I | 55 | rs1415984785 | 0.6361 | None | gnomAD-2.1.1 | 3.98E-06 | |
2745 | 39 | V/I | 55 | rs1415984785 | 0.6361 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2746 | 40 | V/L | 56 | rs1056269539 | 0.3933 | None | gnomAD-3.1.2 | 6.57E-06 | |
2746 | 40 | V/L | 56 | rs1056269539 | 0.3933 | None | gnomAD-4.0.0 | 6.57108E-06 | |
2749 | 43 | S/P | 70 | None | 0.4463 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2750 | 44 | N/I | 73 | rs1471538206 | 0.3775 | None | gnomAD-2.1.1 | 3.98E-06 | |
2750 | 44 | N/I | 73 | rs1471538206 | 0.3775 | None | gnomAD-4.0.0 | 3.42032E-06 | |
2750 | 44 | N/S | 73 | rs1471538206 | 0.3775 | None | gnomAD-2.1.1 | 3.98E-06 | |
2750 | 44 | N/S | 73 | rs1471538206 | 0.3775 | None | gnomAD-3.1.2 | 6.57E-06 | |
2750 | 44 | N/S | 73 | rs1471538206 | 0.3775 | None | gnomAD-4.0.0 | 5.57615E-06 | |
2751 | 45 | E/G | 111 | rs368235451 | 0.9630 | None | gnomAD-2.1.1 | 3.19E-05 | |
2751 | 45 | E/G | 111 | rs368235451 | 0.9630 | None | gnomAD-3.1.2 | 6.57E-06 | |
2751 | 45 | E/G | 111 | rs368235451 | 0.9630 | None | gnomAD-4.0.0 | 3.15978E-05 | |
2752 | 46 | K/N | 115 | rs1253422827 | 0.1595 | None | gnomAD-2.1.1 | 3.98E-06 | |
2752 | 46 | K/N | 115 | rs1253422827 | 0.1595 | None | gnomAD-4.0.0 | 3.18098E-06 | |
2753 | 47 | Y/C | 121 | rs2091310789 | 0.1878 | None | gnomAD-4.0.0 | 1.5905E-06 | |
2754 | 48 | A/G | 122 | rs770875496 | 0.2676 | None | gnomAD-2.1.1 | 2.79E-05 | |
2754 | 48 | A/G | 122 | rs770875496 | 0.2676 | None | gnomAD-4.0.0 | 7.52474E-06 | |
2755 | 49 | I/L | 123 | rs749379860 | 0.3022 | None | gnomAD-2.1.1 | 3.98E-06 | |
2755 | 49 | I/M | 123 | rs1235358964 | 0.3022 | None | gnomAD-2.1.1 | 3.98E-06 | |
2755 | 49 | I/M | 123 | rs1235358964 | 0.3022 | None | gnomAD-4.0.0 | 1.5905E-06 | |
2755 | 49 | I/N | 123 | rs2091308831 | 0.3022 | None | gnomAD-3.1.2 | 6.57E-06 | |
2755 | 49 | I/N | 123 | rs2091308831 | 0.3022 | None | gnomAD-4.0.0 | 3.04473E-06 | |
2755 | 49 | I/V | 123 | rs749379860 | 0.3022 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2757 | 51 | V/G | 127 | rs1267823803 | 0.4167 | None | gnomAD-2.1.1 | 3.98E-06 | |
2757 | 51 | V/G | 127 | rs1267823803 | 0.4167 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2757 | 51 | V/I | 127 | rs769822096 | 0.4167 | None | gnomAD-2.1.1 | 1.99E-05 | |
2757 | 51 | V/I | 127 | rs769822096 | 0.4167 | None | gnomAD-3.1.2 | 2.63E-05 | |
2757 | 51 | V/I | 127 | rs769822096 | 0.4167 | None | gnomAD-4.0.0 | 2.16853E-05 | |
2758 | 52 | K/R | 130 | rs748372588 | 0.9326 | None | gnomAD-2.1.1 | 7.97E-06 | |
2758 | 52 | K/R | 130 | rs748372588 | 0.9326 | None | gnomAD-3.1.2 | 1.31E-05 | |
2758 | 52 | K/R | 130 | rs748372588 | 0.9326 | None | gnomAD-4.0.0 | 6.40277E-06 | |
2758 | 52 | K/T | 130 | None | 0.9326 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2759 | 53 | G/E | 131 | None | 0.4402 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2760 | 54 | T/I | 134 | None | 0.2354 | None | gnomAD-4.0.0 | 1.36814E-06 | |
2761 | 55 | I/V | 135 | None | 0.4027 | None | gnomAD-4.0.0 | 4.10441E-06 | |
2762 | 56 | Y/C | 136 | rs1553995474 | 0.1777 | None | gnomAD-4.0.0 | 3.18101E-06 | |
2762 | 56 | Y/H | 136 | None | 0.1777 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2763 | 57 | S/F | 137 | rs1231235466 | 0.1920 | None | gnomAD-4.0.0 | 2.40065E-06 | |
2764 | 58 | L/V | 138 | rs2091305777 | 0.0759 | None | gnomAD-4.0.0 | 4.10441E-06 | |
2765 | 59 | R/K | 139 | None | 0.3825 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2765 | 59 | R/M | 139 | None | 0.3825 | None | gnomAD-3.1.2 | 6.57E-06 | |
2765 | 59 | R/M | 139 | None | 0.3825 | None | gnomAD-4.0.0 | 6.57073E-06 | |
2765 | 59 | R/T | 139 | None | 0.3825 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2766 | 60 | I/F | 140 | rs1414224093 | 0.0732 | None | gnomAD-2.1.1 | 3.99E-06 | |
2766 | 60 | I/F | 140 | rs1414224093 | 0.0732 | None | gnomAD-4.0.0 | 1.5905E-06 | |
2766 | 60 | I/T | 140 | rs755389555 | 0.0732 | None | gnomAD-2.1.1 | 3.99E-06 | |
2766 | 60 | I/T | 140 | rs755389555 | 0.0732 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2767 | 61 | K/N | 141 | None | 0.3142 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2767 | 61 | K/R | 141 | None | 0.3142 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2768 | 62 | N/I | 143 | rs747393998 | 0.7392 | None | gnomAD-2.1.1 | 7.97E-06 | |
2768 | 62 | N/I | 143 | rs747393998 | 0.7392 | None | gnomAD-4.0.0 | 1.59051E-06 | |
2769 | 63 | C/G | 144 | rs1313199971 | 0.0964 | None | gnomAD-2.1.1 | 3.18E-05 | |
2769 | 63 | C/G | 144 | rs1313199971 | 0.0964 | None | gnomAD-3.1.2 | 6.57E-06 | |
2769 | 63 | C/G | 144 | rs1313199971 | 0.0964 | None | gnomAD-4.0.0 | 3.71733E-06 | |
2769 | 63 | C/R | 144 | None | 0.0964 | None | gnomAD-4.0.0 | 6.84068E-07 | |
2770 | 64 | A/V | 145 | rs1329726455 | 0.2367 | None | gnomAD-3.1.2 | 6.57E-06 | |
2770 | 64 | A/V | 145 | rs1329726455 | 0.2367 | None | gnomAD-4.0.0 | 1.23906E-06 | |
2771 | 65 | I/M | 146 | rs576644663 | 0.6612 | None | gnomAD-2.1.1 | 1.06E-05 | |
2771 | 65 | I/M | 146 | rs576644663 | 0.6612 | None | gnomAD-3.1.2 | 6.57E-06 | |
2771 | 65 | I/M | 146 | rs576644663 | 0.6612 | None | gnomAD-4.0.0 | 1.85874E-06 | |
2771 | 65 | I/T | 146 | rs780465670 | 0.6612 | None | gnomAD-2.1.1 | 1.42E-05 | |
2771 | 65 | I/T | 146 | rs780465670 | 0.6612 | None | gnomAD-3.1.2 | 4.6E-05 | |
2771 | 65 | I/T | 146 | rs780465670 | 0.6612 | None | gnomAD-4.0.0 | 5.20422E-05 | |
2771 | 65 | I/V | 146 | rs1416391085 | 0.6612 | None | gnomAD-2.1.1 | 3.18E-05 | |
2771 | 65 | I/V | 146 | rs1416391085 | 0.6612 | None | gnomAD-3.1.2 | 6.57E-06 | |
2771 | 65 | I/V | 146 | rs1416391085 | 0.6612 | None | gnomAD-4.0.0 | 6.56935E-06 | |
2772 | 66 | V/M | 148 | rs143035953 | 0.7315 | None | gnomAD-2.1.1 | 4.25047E-04 | |
2772 | 66 | V/M | 148 | rs143035953 | 0.7315 | None | gnomAD-3.1.2 | 1.03833E-03 | |
2772 | 66 | V/M | 148 | rs143035953 | 0.7315 | None | 1000 genomes | 9.98403E-04 | |
2772 | 66 | V/M | 148 | rs143035953 | 0.7315 | None | gnomAD-4.0.0 | 2.46573E-04 | |
2773 | 67 | D/E | 149 | rs1364502747 | 0.1449 | None | gnomAD-2.1.1 | 3.18E-05 | |
2773 | 67 | D/E | 149 | rs1364502747 | 0.1449 | None | gnomAD-3.1.2 | 6.57E-06 | |
2773 | 67 | D/E | 149 | rs1364502747 | 0.1449 | None | gnomAD-4.0.0 | 6.56953E-06 | |
2773 | 67 | D/G | 149 | None | 0.1449 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2773 | 67 | D/N | 149 | rs1455641988 | 0.1449 | None | gnomAD-2.1.1 | 1.2E-05 | |
2773 | 67 | D/N | 149 | rs1455641988 | 0.1449 | None | gnomAD-3.1.2 | 6.57E-06 | |
2773 | 67 | D/N | 149 | rs1455641988 | 0.1449 | None | gnomAD-4.0.0 | 6.40279E-06 | |
2774 | 68 | E/D | 151 | None | 0.2572 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2774 | 68 | E/K | 151 | None | 0.2572 | None | gnomAD-2.1.1 | 3.99E-06 | |
2774 | 68 | E/K | 151 | None | 0.2572 | None | gnomAD-3.1.2 | 1.31E-05 | |
2774 | 68 | E/K | 151 | None | 0.2572 | None | gnomAD-4.0.0 | 1.15249E-05 | |
2774 | 68 | E/Q | 151 | rs763666119 | 0.2572 | None | gnomAD-2.1.1 | 3.99E-06 | |
2774 | 68 | E/Q | 151 | rs763666119 | 0.2572 | None | gnomAD-3.1.2 | 6.57E-06 | |
2774 | 68 | E/Q | 151 | rs763666119 | 0.2572 | None | gnomAD-4.0.0 | 6.57065E-06 | |
2775 | 69 | S/C | 152 | None | 0.1092 | None | gnomAD-4.0.0 | 1.59053E-06 | |
2775 | 69 | S/F | 152 | rs1422746407 | 0.1092 | None | gnomAD-2.1.1 | 3.99E-06 | |
2775 | 69 | S/F | 152 | rs1422746407 | 0.1092 | None | gnomAD-4.0.0 | 1.59053E-06 | |
2775 | 69 | S/P | 152 | rs755629576 | 0.1092 | None | gnomAD-2.1.1 | 7.97E-06 | |
2775 | 69 | S/P | 152 | rs755629576 | 0.1092 | None | gnomAD-3.1.2 | 2.63E-05 | |
2775 | 69 | S/P | 152 | rs755629576 | 0.1092 | None | gnomAD-4.0.0 | 2.63061E-05 | |
2776 | 70 | V/F | 153 | rs752456093 | 0.3943 | None | gnomAD-2.1.1 | 3.99E-06 | |
2776 | 70 | V/F | 153 | rs752456093 | 0.3943 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2777 | 71 | Y/C | 154 | None | 0.0976 | None | gnomAD-4.0.0 | 1.36815E-06 | |
2778 | 72 | G/A | 155 | rs767274457 | 0.1548 | None | gnomAD-4.0.0 | 6.84073E-07 | |
2778 | 72 | G/D | 155 | None | 0.1548 | None | gnomAD-2.1.1 | 1.59E-05 | |
2778 | 72 | G/D | 155 | None | 0.1548 | None | gnomAD-4.0.0 | 6.84073E-06 | |
2781 | 75 | L/F | 158 | rs759448192 | 0.2000 | None | gnomAD-2.1.1 | 4.78E-05 | |
2781 | 75 | L/F | 158 | rs759448192 | 0.2000 | None | gnomAD-3.1.2 | 1.97E-05 | |
2781 | 75 | L/F | 158 | rs759448192 | 0.2000 | None | gnomAD-4.0.0 | 3.15985E-05 | |
2782 | 76 | G/A | 159 | rs2091296407 | 0.4600 | None | gnomAD-4.0.0 | 1.36814E-06 | |
2782 | 76 | G/R | 159 | rs774178619 | 0.4600 | None | gnomAD-2.1.1 | 3.99E-06 | |
2782 | 76 | G/R | 159 | rs774178619 | 0.4600 | None | gnomAD-4.0.0 | 1.59055E-06 | |
2782 | 76 | G/V | 159 | None | 0.4600 | None | gnomAD-4.0.0 | 6.84072E-07 | |
2783 | 77 | R/S | 161 | rs374375627 | 1.0445 | None | gnomAD-2.1.1 | 3.99E-06 | |
2783 | 77 | R/S | 161 | rs374375627 | 1.0445 | None | gnomAD-4.0.0 | 1.36815E-06 | |
2784 | 78 | L/I | 162 | None | 0.3857 | None | gnomAD-4.0.0 | 1.59055E-06 | |
2784 | 78 | L/P | 162 | None | 0.3857 | None | gnomAD-4.0.0 | 2.73631E-06 | |
2784 | 78 | L/R | 162 | rs766041336 | 0.3857 | None | gnomAD-2.1.1 | 3.99E-06 | |
2784 | 78 | L/R | 162 | rs766041336 | 0.3857 | None | gnomAD-3.1.2 | 6.57E-06 | |
2784 | 78 | L/R | 162 | rs766041336 | 0.3857 | None | gnomAD-4.0.0 | 1.23904E-06 | |
2785 | 79 | G/R | 163 | None | 0.4552 | None | gnomAD-4.0.0 | 1.59056E-06 |