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The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2797 | 3 | I/S | 3 | rs1561222466 | 0.2904 | None | gnomAD-4.0.0 | 6.84065E-07 | |
2797 | 3 | I/T | 3 | rs1561222466 | 0.2904 | None | gnomAD-4.0.0 | 6.84065E-07 | |
2798 | 4 | I/L | 4 | None | 0.4579 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2798 | 4 | I/T | 4 | rs751135365 | 0.4579 | None | gnomAD-2.1.1 | 3.99E-06 | |
2798 | 4 | I/T | 4 | rs751135365 | 0.4579 | None | gnomAD-4.0.0 | 1.36813E-06 | |
2799 | 5 | K/I | 5 | None | 0.2931 | None | gnomAD-4.0.0 | 6.84062E-07 | |
2799 | 5 | K/Q | 5 | None | 0.2931 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2799 | 5 | K/R | 5 | None | 0.2931 | None | gnomAD-4.0.0 | 6.84062E-07 | |
2800 | 6 | K/R | 7 | None | 0.5232 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2801 | 7 | P/Q | 8 | None | 0.1582 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2802 | 8 | K/E | 9 | rs1294814423 | 0.6735 | None | gnomAD-2.1.1 | 3.99E-06 | |
2802 | 8 | K/E | 9 | rs1294814423 | 0.6735 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2803 | 9 | D/N | 11 | rs1457989871 | 0.3636 | None | gnomAD-2.1.1 | 3.99E-06 | |
2803 | 9 | D/N | 11 | rs1457989871 | 0.3636 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2806 | 12 | A/V | 16 | None | 0.1787 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2808 | 14 | E/K | 23 | rs2154342769 | 0.2784 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2809 | 15 | N/K | 24 | rs762595856 | 0.4943 | None | gnomAD-2.1.1 | 3.99E-06 | |
2809 | 15 | N/K | 24 | rs762595856 | 0.4943 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2810 | 16 | A/G | 25 | rs1431193511 | 0.1381 | None | gnomAD-2.1.1 | 3.99E-06 | |
2810 | 16 | A/G | 25 | rs1431193511 | 0.1381 | None | gnomAD-4.0.0 | 3.18097E-06 | |
2810 | 16 | A/V | 25 | None | 0.1381 | None | gnomAD-4.0.0 | 3.18097E-06 | |
2811 | 17 | T/A | 26 | rs1574566372 | 0.3228 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2812 | 18 | V/I | 28 | None | 0.1729 | None | gnomAD-4.0.0 | 1.36812E-06 | |
2812 | 18 | V/L | 28 | rs146636599 | 0.1729 | None | gnomAD-2.1.1 | 9.56E-05 | |
2812 | 18 | V/L | 28 | rs146636599 | 0.1729 | None | gnomAD-3.1.2 | 1.44575E-04 | |
2812 | 18 | V/L | 28 | rs146636599 | 0.1729 | None | gnomAD-4.0.0 | 4.39862E-05 | |
2816 | 22 | V/I | 33 | None | 0.1259 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2820 | 26 | H/R | 41 | rs794729581 | 0.4181 | None | gnomAD-2.1.1 | 3.18E-05 | |
2820 | 26 | H/R | 41 | rs794729581 | 0.4181 | None | gnomAD-3.1.2 | 1.97E-05 | |
2820 | 26 | H/R | 41 | rs794729581 | 0.4181 | None | gnomAD-4.0.0 | 6.81517E-06 | |
2821 | 27 | D/E | 42 | None | 0.4075 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2821 | 27 | D/Y | 42 | None | 0.4075 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2822 | 28 | T/I | 43 | None | 0.9321 | None | gnomAD-4.0.0 | 1.36814E-06 | |
2823 | 29 | V/F | 44 | rs33917087 | 0.2325 | None | gnomAD-2.1.1 | 1.45513E-02 | |
2823 | 29 | V/F | 44 | rs33917087 | 0.2325 | None | gnomAD-3.1.2 | 1.55706E-02 | |
2823 | 29 | V/F | 44 | rs33917087 | 0.2325 | None | 1000 genomes | 7.58786E-03 | |
2823 | 29 | V/F | 44 | rs33917087 | 0.2325 | None | gnomAD-4.0.0 | 1.85661E-02 | |
2825 | 31 | V/I | 46 | rs776670775 | 0.1835 | None | gnomAD-2.1.1 | 3.98E-06 | |
2825 | 31 | V/I | 46 | rs776670775 | 0.1835 | None | gnomAD-4.0.0 | 6.84067E-07 | |
2825 | 31 | V/L | 46 | None | 0.1835 | None | gnomAD-4.0.0 | 2.73627E-06 | |
2827 | 33 | W/C | 48 | None | 0.1308 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2827 | 33 | W/L | 48 | None | 0.1308 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2829 | 35 | H/L | 50 | rs1272480712 | 0.1412 | None | gnomAD-2.1.1 | 3.98E-06 | |
2829 | 35 | H/L | 50 | rs1272480712 | 0.1412 | None | gnomAD-4.0.0 | 1.02609E-05 | |
2829 | 35 | H/R | 50 | None | 0.1412 | None | gnomAD-4.0.0 | 6.84063E-07 | |
2830 | 36 | K/N | 51 | rs768672643 | 0.4033 | None | gnomAD-2.1.1 | 3.18E-05 | |
2831 | 37 | S/N | 52 | rs2306636 | 0.5624 | None | gnomAD-2.1.1 | 7.91051E-02 | |
2831 | 37 | S/N | 52 | rs2306636 | 0.5624 | None | gnomAD-3.1.2 | 5.16731E-02 | |
2831 | 37 | S/N | 52 | rs2306636 | 0.5624 | None | 1000 genomes | 8.127E-02 | |
2831 | 37 | S/N | 52 | rs2306636 | 0.5624 | None | gnomAD-4.0.0 | 5.47099E-02 | |
2832 | 38 | V/L | 55 | rs375549179 | 0.4727 | None | gnomAD-2.1.1 | 1.42E-05 | |
2832 | 38 | V/L | 55 | rs375549179 | 0.4727 | None | gnomAD-3.1.2 | 3.94E-05 | |
2832 | 38 | V/L | 55 | rs375549179 | 0.4727 | None | gnomAD-4.0.0 | 1.34446E-04 | |
2833 | 39 | E/G | 56 | None | 0.2552 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2836 | 42 | P/L | 70 | rs1310170063 | 0.5241 | None | gnomAD-2.1.1 | 3.98E-06 | |
2836 | 42 | P/L | 70 | rs1310170063 | 0.5241 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2836 | 42 | P/R | 70 | rs1310170063 | 0.5241 | None | gnomAD-4.0.0 | 3.18092E-06 | |
2836 | 42 | P/T | 70 | rs772547332 | 0.5241 | None | gnomAD-2.1.1 | 7.08E-06 | |
2837 | 43 | S/C | 73 | rs202024134 | 0.2309 | None | gnomAD-2.1.1 | 4.78E-05 | |
2837 | 43 | S/C | 73 | rs202024134 | 0.2309 | None | gnomAD-3.1.2 | 1.97E-05 | |
2837 | 43 | S/C | 73 | rs202024134 | 0.2309 | None | gnomAD-4.0.0 | 4.22571E-05 | |
2837 | 43 | S/G | 73 | rs202024134 | 0.2309 | None | gnomAD-2.1.1 | 3.98E-06 | |
2837 | 43 | S/G | 73 | rs202024134 | 0.2309 | None | gnomAD-4.0.0 | 3.18094E-06 | |
2837 | 43 | S/R | 73 | rs1166608062 | 0.2309 | None | gnomAD-3.1.2 | 6.57E-06 | |
2837 | 43 | S/R | 73 | rs1166608062 | 0.2309 | None | gnomAD-4.0.0 | 6.19566E-06 | |
2840 | 46 | H/R | 121 | None | 0.2557 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2841 | 47 | R/K | 122 | rs779603870 | 0.5992 | None | gnomAD-2.1.1 | 3.98E-06 | |
2841 | 47 | R/K | 122 | rs779603870 | 0.5992 | None | gnomAD-4.0.0 | 1.36812E-06 | |
2842 | 48 | L/P | 123 | rs771546584 | 0.3263 | None | gnomAD-2.1.1 | 3.18E-05 | |
2842 | 48 | L/P | 123 | rs771546584 | 0.3263 | None | gnomAD-3.1.2 | 1.97E-05 | |
2842 | 48 | L/P | 123 | rs771546584 | 0.3263 | None | gnomAD-4.0.0 | 8.67324E-06 | |
2843 | 49 | V/G | 125 | None | 0.3850 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2844 | 50 | S/L | 127 | rs2091265064 | 0.4242 | None | gnomAD-3.1.2 | 6.57E-06 | |
2844 | 50 | S/L | 127 | rs2091265064 | 0.4242 | None | gnomAD-4.0.0 | 6.57315E-06 | |
2846 | 52 | R/K | 131 | rs1658158334 | 0.5421 | None | gnomAD-3.1.2 | 6.57E-06 | |
2846 | 52 | R/K | 131 | rs1658158334 | 0.5421 | None | gnomAD-4.0.0 | 2.02991E-06 | |
2847 | 53 | K/E | 134 | rs794729582 | 0.3375 | None | gnomAD-2.1.1 | 3.98E-06 | |
2847 | 53 | K/E | 134 | rs794729582 | 0.3375 | None | gnomAD-4.0.0 | 2.73624E-06 | |
2848 | 54 | V/L | 135 | None | 0.2644 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2849 | 55 | H/N | 136 | None | 0.1596 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2849 | 55 | H/Q | 136 | rs2091263013 | 0.1596 | None | gnomAD-4.0.0 | 1.59045E-06 | |
2850 | 56 | K/R | 137 | rs1396734796 | 0.3338 | None | gnomAD-2.1.1 | 3.98E-06 | |
2850 | 56 | K/R | 137 | rs1396734796 | 0.3338 | None | gnomAD-4.0.0 | 1.59045E-06 | |
2852 | 58 | M/I | 139 | rs1464875201 | 0.2149 | None | gnomAD-2.1.1 | 7.96E-06 | |
2852 | 58 | M/I | 139 | rs1464875201 | 0.2149 | None | gnomAD-3.1.2 | 6.57E-06 | |
2852 | 58 | M/I | 139 | rs1464875201 | 0.2149 | None | gnomAD-4.0.0 | 2.56108E-06 | |
2852 | 58 | M/K | 139 | None | 0.2149 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2852 | 58 | M/V | 139 | rs1382675661 | 0.2149 | None | gnomAD-2.1.1 | 3.18E-05 | |
2852 | 58 | M/V | 139 | rs1382675661 | 0.2149 | None | gnomAD-3.1.2 | 6.57E-06 | |
2852 | 58 | M/V | 139 | rs1382675661 | 0.2149 | None | gnomAD-4.0.0 | 2.0298E-06 | |
2853 | 59 | L/V | 140 | rs1379690495 | 0.1255 | None | gnomAD-2.1.1 | 3.98E-06 | |
2853 | 59 | L/V | 140 | rs1379690495 | 0.1255 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2854 | 60 | Q/H | 141 | None | 0.5121 | None | gnomAD-4.0.0 | 6.84063E-07 | |
2854 | 60 | Q/R | 141 | rs750346528 | 0.5121 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2856 | 62 | I/V | 144 | rs1387078141 | 0.0827 | None | gnomAD-2.1.1 | 3.18E-05 | |
2856 | 62 | I/V | 144 | rs1387078141 | 0.0827 | None | gnomAD-3.1.2 | 6.57E-06 | |
2856 | 62 | I/V | 144 | rs1387078141 | 0.0827 | None | gnomAD-4.0.0 | 5.12232E-06 | |
2857 | 63 | S/C | 145 | rs1003498795 | 0.2778 | None | gnomAD-3.1.2 | 6.57E-06 | |
2857 | 63 | S/C | 145 | rs1003498795 | 0.2778 | None | gnomAD-4.0.0 | 1.23913E-06 | |
2857 | 63 | S/F | 145 | rs1003498795 | 0.2778 | None | gnomAD-4.0.0 | 1.36813E-06 | |
2857 | 63 | S/Y | 145 | None | 0.2778 | None | gnomAD-4.0.0 | 4.78845E-06 | |
2858 | 64 | P/L | 146 | rs370094744 | 0.4709 | None | gnomAD-2.1.1 | 1.42E-05 | |
2858 | 64 | P/L | 146 | rs370094744 | 0.4709 | None | gnomAD-3.1.2 | 2.63E-05 | |
2858 | 64 | P/L | 146 | rs370094744 | 0.4709 | None | gnomAD-4.0.0 | 7.435E-06 | |
2858 | 64 | P/R | 146 | rs370094744 | 0.4709 | None | gnomAD-4.0.0 | 6.84067E-07 | |
2859 | 65 | S/A | 148 | None | 0.5931 | None | gnomAD-4.0.0 | 2.40065E-06 | |
2860 | 66 | D/H | 149 | rs2091257509 | 0.1882 | None | gnomAD-3.1.2 | 1.31E-05 | |
2860 | 66 | D/H | 149 | rs2091257509 | 0.1882 | None | gnomAD-4.0.0 | 3.04486E-06 | |
2861 | 67 | A/S | 151 | rs1383547916 | 0.1911 | None | gnomAD-3.1.2 | 1.31E-05 | |
2861 | 67 | A/S | 151 | rs1383547916 | 0.1911 | None | gnomAD-4.0.0 | 4.05965E-06 | |
2862 | 68 | G/R | 152 | None | 0.1733 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2865 | 71 | T/I | 155 | rs2091254998 | 0.1268 | None | gnomAD-4.0.0 | 2.05219E-06 | |
2865 | 71 | T/R | 155 | None | 0.1268 | None | gnomAD-4.0.0 | 6.84064E-07 | |
2866 | 72 | A/T | 156 | rs147174853 | 0.1031 | None | gnomAD-2.1.1 | 1.59E-05 | |
2866 | 72 | A/T | 156 | rs147174853 | 0.1031 | None | gnomAD-3.1.2 | 1.97E-05 | |
2866 | 72 | A/T | 156 | rs147174853 | 0.1031 | None | 1000 genomes | 1.99681E-04 | |
2866 | 72 | A/T | 156 | rs147174853 | 0.1031 | None | gnomAD-4.0.0 | 3.71718E-06 | |
2867 | 73 | V/M | 157 | None | 0.1873 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2868 | 74 | V/A | 158 | rs765207321 | 0.2026 | None | gnomAD-2.1.1 | 3.98E-06 | |
2868 | 74 | V/A | 158 | rs765207321 | 0.2026 | None | gnomAD-4.0.0 | 3.18094E-06 | |
2869 | 75 | G/R | 164 | rs764173950 | 0.4096 | None | gnomAD-2.1.1 | 2.48E-05 | |
2869 | 75 | G/R | 164 | rs764173950 | 0.4096 | None | gnomAD-3.1.2 | 1.31E-05 | |
2869 | 75 | G/R | 164 | rs764173950 | 0.4096 | None | gnomAD-4.0.0 | 8.0546E-06 | |
2869 | 75 | G/V | 164 | None | 0.4096 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2870 | 76 | Q/K | 165 | None | 0.8530 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2870 | 76 | Q/L | 165 | rs372008728 | 0.8530 | None | gnomAD-2.1.1 | 7.96E-06 | |
2870 | 76 | Q/L | 165 | rs372008728 | 0.8530 | None | gnomAD-3.1.2 | 6.57E-06 | |
2870 | 76 | Q/L | 165 | rs372008728 | 0.8530 | None | gnomAD-4.0.0 | 2.47824E-06 | |
2871 | 77 | L/F | 166 | None | 0.3222 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2871 | 77 | L/M | 166 | None | 0.3222 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2873 | 79 | C/G | 169 | None | 0.1676 | None | gnomAD-4.0.0 | 2.05218E-06 | |
2875 | 81 | A/T | 172 | rs2091251469 | 0.0936 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2876 | 82 | K/E | 173 | None | 0.2529 | None | gnomAD-4.0.0 | 6.84061E-07 | |
2876 | 82 | K/Q | 173 | None | 0.2529 | None | gnomAD-4.0.0 | 6.84061E-07 | |
2877 | 83 | L/R | 174 | None | 0.0899 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2878 | 84 | F/I | 175 | rs2091250841 | 0.3914 | None | gnomAD-3.1.2 | 6.57E-06 | |
2878 | 84 | F/I | 175 | rs2091250841 | 0.3914 | None | gnomAD-4.0.0 | 2.56115E-06 | |
2878 | 84 | F/L | 175 | None | 0.3914 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2878 | 84 | F/S | 175 | rs2091250535 | 0.3914 | None | gnomAD-4.0.0 | 1.36813E-06 | |
2879 | 85 | V/A | 177 | None | 0.6913 | None | gnomAD-4.0.0 | 1.59047E-06 |