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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2882 | 1 | L/V | 1 | None | 0.5956 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2883 | 2 | H/Q | 2 | rs763935915 | 0.4559 | None | gnomAD-2.1.1 | 2.79E-05 | |
2883 | 2 | H/Q | 2 | rs763935915 | 0.4559 | None | gnomAD-3.1.2 | 6.57E-06 | |
2883 | 2 | H/Q | 2 | rs763935915 | 0.4559 | None | gnomAD-4.0.0 | 9.2936E-06 | |
2883 | 2 | H/R | 2 | rs753833148 | 0.4559 | None | gnomAD-2.1.1 | 2E-05 | |
2883 | 2 | H/R | 2 | rs753833148 | 0.4559 | None | gnomAD-3.1.2 | 1.97E-05 | |
2883 | 2 | H/R | 2 | rs753833148 | 0.4559 | None | gnomAD-4.0.0 | 1.3011E-05 | |
2884 | 3 | I/V | 3 | rs1390184716 | 0.1418 | None | gnomAD-2.1.1 | 3.99E-06 | |
2884 | 3 | I/V | 3 | rs1390184716 | 0.1418 | None | gnomAD-4.0.0 | 2.05224E-06 | |
2885 | 4 | T/I | 4 | rs756258905 | 0.3717 | None | gnomAD-2.1.1 | 2.79E-05 | |
2885 | 4 | T/I | 4 | rs756258905 | 0.3717 | None | gnomAD-4.0.0 | 2.70398E-05 | |
2887 | 6 | T/I | 7 | None | 0.6552 | None | gnomAD-4.0.0 | 1.59058E-06 | |
2887 | 6 | T/N | 7 | rs752697997 | 0.6552 | None | gnomAD-2.1.1 | 3.99E-06 | |
2887 | 6 | T/N | 7 | rs752697997 | 0.6552 | None | gnomAD-4.0.0 | 9.5435E-06 | |
2888 | 7 | M/L | 8 | rs1038686184 | 0.1676 | None | gnomAD-2.1.1 | 3.99E-06 | |
2888 | 7 | M/L | 8 | rs1038686184 | 0.1676 | None | gnomAD-4.0.0 | 1.11341E-05 | |
2888 | 7 | M/V | 8 | rs1038686184 | 0.1676 | None | gnomAD-3.1.2 | 1.31E-05 | |
2888 | 7 | M/V | 8 | rs1038686184 | 0.1676 | None | gnomAD-4.0.0 | 3.84187E-06 | |
2889 | 8 | K/R | 9 | rs1245891851 | 0.8511 | None | gnomAD-2.1.1 | 3.99E-06 | |
2889 | 8 | K/R | 9 | rs1245891851 | 0.8511 | None | gnomAD-4.0.0 | 1.36817E-06 | |
2889 | 8 | K/T | 9 | None | 0.8511 | None | gnomAD-4.0.0 | 6.84087E-07 | |
2890 | 9 | N/D | 11 | rs767589357 | 0.5240 | None | gnomAD-2.1.1 | 2.39E-05 | |
2890 | 9 | N/D | 11 | rs767589357 | 0.5240 | None | gnomAD-4.0.0 | 1.7496E-05 | |
2890 | 9 | N/S | 11 | rs1574561545 | 0.5240 | None | gnomAD-4.0.0 | 1.36816E-06 | |
2890 | 9 | N/T | 11 | None | 0.5240 | None | gnomAD-4.0.0 | 6.84082E-07 | |
2891 | 10 | I/M | 13 | rs766867322 | 0.1971 | None | gnomAD-4.0.0 | 1.36819E-06 | |
2891 | 10 | I/T | 13 | rs774651047 | 0.1971 | None | gnomAD-2.1.1 | 3.99E-06 | |
2891 | 10 | I/V | 13 | None | 0.1971 | None | gnomAD-4.0.0 | 1.5906E-06 | |
2892 | 11 | E/K | 14 | rs763393324 | 0.6736 | None | gnomAD-2.1.1 | 1.2E-05 | |
2892 | 11 | E/K | 14 | rs763393324 | 0.6736 | None | gnomAD-3.1.2 | 6.58E-06 | |
2892 | 11 | E/K | 14 | rs763393324 | 0.6736 | None | gnomAD-4.0.0 | 1.30129E-05 | |
2892 | 11 | E/Q | 14 | rs763393324 | 0.6736 | None | gnomAD-2.1.1 | 3.99E-06 | |
2892 | 11 | E/Q | 14 | rs763393324 | 0.6736 | None | gnomAD-3.1.2 | 6.58E-06 | |
2892 | 11 | E/Q | 14 | rs763393324 | 0.6736 | None | gnomAD-4.0.0 | 1.23933E-06 | |
2893 | 12 | V/M | 16 | None | 0.1868 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2894 | 13 | P/L | 18 | None | 0.3943 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2896 | 15 | T/I | 24 | rs72647884 | 0.5072 |
ARVC |
Literature | None | |
2896 | 15 | T/I | 24 | rs72647884 | 0.5072 | None | gnomAD-4.0.0 | 1.59054E-06 | |
2898 | 17 | T/A | 26 | None | 0.3738 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2899 | 18 | A/S | 28 | rs1561217531 | 0.1614 | None | gnomAD-2.1.1 | 3.99E-06 | |
2899 | 18 | A/S | 28 | rs1561217531 | 0.1614 | None | gnomAD-4.0.0 | 1.59053E-06 | |
2902 | 21 | E/A | 31 | rs2091213467 | 0.3848 | None | gnomAD-3.1.2 | 1.31E-05 | |
2902 | 21 | E/A | 31 | rs2091213467 | 0.3848 | None | gnomAD-4.0.0 | 3.84183E-06 | |
2902 | 21 | E/G | 31 | None | 0.3848 | None | gnomAD-4.0.0 | 1.59053E-06 | |
2902 | 21 | E/Q | 31 | rs143767300 | 0.3848 | None | gnomAD-2.1.1 | 7.97E-06 | |
2902 | 21 | E/Q | 31 | rs143767300 | 0.3848 | None | gnomAD-3.1.2 | 6.57E-06 | |
2902 | 21 | E/Q | 31 | rs143767300 | 0.3848 | None | gnomAD-4.0.0 | 2.5613E-06 | |
2904 | 23 | E/K | 34 | rs794729583 | 0.2769 | None | gnomAD-4.0.0 | 6.15665E-06 | |
2905 | 24 | V/A | 35 | None | 0.1062 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2905 | 24 | V/L | 35 | rs369380469 | 0.1062 | None | gnomAD-4.0.0 | 2.05221E-06 | |
2905 | 24 | V/M | 35 | rs369380469 | 0.1062 | None | gnomAD-2.1.1 | 1.06E-05 | |
2905 | 24 | V/M | 35 | rs369380469 | 0.1062 | None | gnomAD-3.1.2 | 1.31E-05 | |
2905 | 24 | V/M | 35 | rs369380469 | 0.1062 | None | gnomAD-4.0.0 | 5.5763E-06 | |
2907 | 26 | H/D | 40 | None | 0.3587 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2907 | 26 | H/N | 40 | None | 0.3587 | None | gnomAD-4.0.0 | 1.59052E-06 | |
2907 | 26 | H/Q | 40 | None | 0.3587 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2908 | 27 | F/L | 41 | None | 0.5723 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2909 | 28 | N/S | 42 | rs1300254374 | 0.9374 | None | gnomAD-2.1.1 | 1.77E-05 | |
2909 | 28 | N/S | 42 | rs1300254374 | 0.9374 | None | gnomAD-3.1.2 | 5.92E-05 | |
2909 | 28 | N/S | 42 | rs1300254374 | 0.9374 | None | gnomAD-4.0.0 | 1.487E-05 | |
2909 | 28 | N/Y | 42 | None | 0.9374 | None | gnomAD-4.0.0 | 7.52473E-06 | |
2910 | 29 | V/I | 43 | None | 0.2366 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2911 | 30 | P/R | 45 | rs770166191 | 0.7394 | None | gnomAD-2.1.1 | 3.99E-06 | |
2911 | 30 | P/R | 45 | rs770166191 | 0.7394 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2912 | 31 | S/F | 46 | None | 0.3189 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2914 | 33 | W/R | 48 | None | 0.1220 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2915 | 34 | L/Q | 49 | None | 0.1931 | None | gnomAD-4.0.0 | 6.84065E-07 | |
2915 | 34 | L/R | 49 | None | 0.1931 | None | gnomAD-4.0.0 | 6.84065E-07 | |
2917 | 36 | N/S | 51 | rs1420302039 | 0.6077 | None | gnomAD-3.1.2 | 6.57E-06 | |
2917 | 36 | N/S | 51 | rs1420302039 | 0.6077 | None | gnomAD-4.0.0 | 6.5735E-06 | |
2918 | 37 | G/A | 52 | rs746575522 | 0.3987 | None | gnomAD-2.1.1 | 1.06E-05 | |
2918 | 37 | G/A | 52 | rs746575522 | 0.3987 | None | gnomAD-3.1.2 | 1.31E-05 | |
2918 | 37 | G/A | 52 | rs746575522 | 0.3987 | None | gnomAD-4.0.0 | 7.68397E-06 | |
2918 | 37 | G/R | 52 | None | 0.3987 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2919 | 38 | V/E | 55 | None | 0.6934 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2919 | 38 | V/L | 55 | rs1407181153 | 0.6934 | None | gnomAD-2.1.1 | 3.98E-06 | |
2919 | 38 | V/L | 55 | rs1407181153 | 0.6934 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2919 | 38 | V/M | 55 | rs1407181153 | 0.6934 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2920 | 39 | E/G | 56 | None | 0.4848 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2920 | 39 | E/Q | 56 | rs911601060 | 0.4848 | None | gnomAD-2.1.1 | 3.98E-06 | |
2920 | 39 | E/Q | 56 | rs911601060 | 0.4848 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2924 | 43 | S/N | 73 | rs745523949 | 0.2762 | None | gnomAD-2.1.1 | 3.98E-06 | |
2924 | 43 | S/N | 73 | rs745523949 | 0.2762 | None | gnomAD-4.0.0 | 1.16291E-05 | |
2924 | 43 | S/R | 73 | rs778525693 | 0.2762 | None | gnomAD-2.1.1 | 3.19E-05 | |
2924 | 43 | S/R | 73 | rs778525693 | 0.2762 | None | gnomAD-3.1.2 | 6.57E-06 | |
2924 | 43 | S/R | 73 | rs778525693 | 0.2762 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2924 | 43 | S/T | 73 | rs745523949 | 0.2762 | None | gnomAD-4.0.0 | 6.84062E-07 | |
2927 | 46 | F/S | 121 | rs2091198989 | 0.1881 | None | gnomAD-4.0.0 | 3.18094E-06 | |
2928 | 47 | K/Q | 122 | None | 0.4176 | None | gnomAD-4.0.0 | 2.40064E-06 | |
2928 | 47 | K/R | 122 | None | 0.4176 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2929 | 48 | I/M | 123 | None | 0.2049 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2929 | 48 | I/R | 123 | rs757111808 | 0.2049 | None | gnomAD-2.1.1 | 1.2E-05 | |
2929 | 48 | I/R | 123 | rs757111808 | 0.2049 | None | gnomAD-4.0.0 | 1.11334E-05 | |
2929 | 48 | I/T | 123 | rs757111808 | 0.2049 | None | gnomAD-2.1.1 | 3.99E-06 | |
2929 | 48 | I/T | 123 | rs757111808 | 0.2049 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2930 | 49 | V/D | 125 | None | 0.3266 | None | gnomAD-4.0.0 | 1.59047E-06 | |
2930 | 49 | V/G | 125 | rs1246031215 | 0.3266 | None | gnomAD-2.1.1 | 3.99E-06 | |
2930 | 49 | V/G | 125 | rs1246031215 | 0.3266 | None | gnomAD-3.1.2 | 6.57E-06 | |
2930 | 49 | V/G | 125 | rs1246031215 | 0.3266 | None | gnomAD-4.0.0 | 2.56135E-06 | |
2930 | 49 | V/I | 125 | rs56373393 | 0.3266 | None | gnomAD-2.1.1 | 2.72761E-04 | |
2930 | 49 | V/I | 125 | rs56373393 | 0.3266 | None | gnomAD-3.1.2 | 8.55E-05 | |
2930 | 49 | V/I | 125 | rs56373393 | 0.3266 | None | 1000 genomes | 9.98403E-04 | |
2930 | 49 | V/I | 125 | rs56373393 | 0.3266 | None | gnomAD-4.0.0 | 8.85968E-05 | |
2931 | 50 | V/A | 127 | None | 0.4264 | None | gnomAD-4.0.0 | 2.73625E-06 | |
2931 | 50 | V/L | 127 | rs756031984 | 0.4264 | None | gnomAD-2.1.1 | 3.99E-06 | |
2931 | 50 | V/M | 127 | rs756031984 | 0.4264 | None | gnomAD-2.1.1 | 3.99E-06 | |
2931 | 50 | V/M | 127 | rs756031984 | 0.4264 | None | gnomAD-4.0.0 | 1.59046E-06 | |
2932 | 51 | Q/R | 130 | rs1490705975 | 0.6346 | None | gnomAD-2.1.1 | 3.99E-06 | |
2932 | 51 | Q/R | 130 | rs1490705975 | 0.6346 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2933 | 52 | G/E | 131 | rs1406534791 | 0.2631 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2934 | 53 | K/R | 134 | rs2091195170 | 0.2200 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2936 | 55 | H/R | 136 | rs548456466 | 0.1680 | None | gnomAD-2.1.1 | 7.97E-06 | |
2936 | 55 | H/R | 136 | rs548456466 | 0.1680 | None | 1000 genomes | 1.99681E-04 | |
2938 | 57 | L/V | 138 | rs755055056 | 0.0676 | None | gnomAD-2.1.1 | 3.54E-05 | |
2938 | 57 | L/V | 138 | rs755055056 | 0.0676 | None | gnomAD-3.1.2 | 1.32E-05 | |
2938 | 57 | L/V | 138 | rs755055056 | 0.0676 | None | gnomAD-4.0.0 | 1.79312E-05 | |
2939 | 58 | I/T | 139 | None | 0.2569 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2940 | 59 | I/S | 140 | None | 0.0787 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2940 | 59 | I/V | 140 | rs939966359 | 0.0787 | None | gnomAD-4.0.0 | 1.59048E-06 | |
2941 | 60 | M/L | 141 | None | 0.3220 | None | gnomAD-4.0.0 | 1.59049E-06 | |
2941 | 60 | M/T | 141 | rs766700696 | 0.3220 | None | gnomAD-2.1.1 | 7.09E-06 | |
2941 | 60 | M/T | 141 | rs766700696 | 0.3220 | None | gnomAD-3.1.2 | 1.32E-05 | |
2941 | 60 | M/T | 141 | rs766700696 | 0.3220 | None | gnomAD-4.0.0 | 5.12315E-06 | |
2941 | 60 | M/V | 141 | rs1344696996 | 0.3220 | None | gnomAD-2.1.1 | 3.99E-06 | |
2941 | 60 | M/V | 141 | rs1344696996 | 0.3220 | None | gnomAD-3.1.2 | 1.31E-05 | |
2941 | 60 | M/V | 141 | rs1344696996 | 0.3220 | None | gnomAD-4.0.0 | 6.40323E-06 | |
2943 | 62 | T/I | 144 | rs1316613829 | 0.0912 | None | gnomAD-4.0.0 | 1.5905E-06 | |
2944 | 63 | S/R | 145 | rs773424866 | 0.1900 | None | gnomAD-2.1.1 | 3.99E-06 | |
2944 | 63 | S/R | 145 | rs773424866 | 0.1900 | None | gnomAD-4.0.0 | 6.84068E-07 | |
2945 | 64 | T/A | 146 | None | 0.4537 | None | gnomAD-4.0.0 | 3.18102E-06 | |
2946 | 65 | E/D | 148 | None | 0.5592 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2948 | 67 | S/L | 151 | rs397517763 | 0.3098 | None | gnomAD-2.1.1 | 3.99E-06 | |
2948 | 67 | S/L | 151 | rs397517763 | 0.3098 | None | gnomAD-4.0.0 | 7.52511E-06 | |
2949 | 68 | A/S | 152 | None | 0.1116 | None | gnomAD-4.0.0 | 1.59075E-06 | |
2950 | 69 | E/G | 153 | None | 0.4653 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2952 | 71 | T/A | 155 | rs879010411 | 0.1748 | None | gnomAD-2.1.1 | 4E-06 | |
2952 | 71 | T/A | 155 | rs879010411 | 0.1748 | None | gnomAD-4.0.0 | 1.59101E-06 | |
2952 | 71 | T/I | 155 | rs1236189232 | 0.1748 | None | gnomAD-3.1.2 | 6.58E-06 | |
2952 | 71 | T/I | 155 | rs1236189232 | 0.1748 | None | gnomAD-4.0.0 | 1.15303E-05 | |
2954 | 73 | V/D | 157 | rs973559075 | 0.2147 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2954 | 73 | V/F | 157 | rs762256991 | 0.2147 | None | gnomAD-2.1.1 | 5.33E-05 | |
2954 | 73 | V/F | 157 | rs762256991 | 0.2147 | None | gnomAD-3.1.2 | 6.58E-06 | |
2954 | 73 | V/F | 157 | rs762256991 | 0.2147 | None | gnomAD-4.0.0 | 1.17756E-05 | |
2954 | 73 | V/I | 157 | None | 0.2147 | None | gnomAD-4.0.0 | 6.84212E-07 | |
2955 | 74 | C/Y | 158 | None | 0.1466 | None | gnomAD-4.0.0 | 9.6026E-06 | |
2956 | 75 | G/V | 159 | None | 0.5129 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2957 | 76 | N/D | 161 | rs138465450 | 1.2005 | None | gnomAD-2.1.1 | 4.01E-06 | |
2957 | 76 | N/D | 161 | rs138465450 | 1.2005 | None | gnomAD-3.1.2 | 1.32E-05 | |
2957 | 76 | N/D | 161 | rs138465450 | 1.2005 | None | gnomAD-4.0.0 | 5.12543E-06 | |
2957 | 76 | N/S | 161 | None | 1.2005 | None | gnomAD-4.0.0 | 1.59171E-06 | |
2958 | 77 | D/G | 162 | None | 0.3258 | None | gnomAD-4.0.0 | 1.5916E-06 | |
2958 | 77 | D/Y | 162 | rs745379216 | 0.3258 | None | gnomAD-2.1.1 | 4.01E-06 | |
2958 | 77 | D/Y | 162 | rs745379216 | 0.3258 | None | gnomAD-4.0.0 | 3.18347E-06 | |
2959 | 78 | Q/L | 163 | rs2091182281 | 0.6711 | None | gnomAD-4.0.0 | 3.18334E-06 | |
2962 | 81 | A/D | 166 | rs1234280033 | 0.1070 | None | gnomAD-2.1.1 | 4.02E-06 | |
2962 | 81 | A/D | 166 | rs1234280033 | 0.1070 | None | gnomAD-4.0.0 | 1.59199E-06 | |
2962 | 81 | A/P | 166 | rs765523736 | 0.1070 | None | gnomAD-2.1.1 | 3.88594E-04 | |
2962 | 81 | A/P | 166 | rs765523736 | 0.1070 | None | gnomAD-4.0.0 | 8.22534E-06 | |
2962 | 81 | A/T | 166 | rs765523736 | 0.1070 | None | gnomAD-4.0.0 | 4.7976E-06 | |
2962 | 81 | A/V | 166 | None | 0.1070 | None | gnomAD-4.0.0 | 1.59199E-06 | |
2963 | 82 | T/A | 168 | None | 0.3177 | None | gnomAD-4.0.0 | 6.93105E-07 | |
2963 | 82 | T/I | 168 | rs1442214623 | 0.3177 | None | gnomAD-2.1.1 | 4.02E-06 | |
2963 | 82 | T/I | 168 | rs1442214623 | 0.3177 | None | gnomAD-4.0.0 | 1.59198E-06 | |
2963 | 82 | T/P | 168 | rs200875815 | 0.3177 | None | 1000 genomes | 2.15455E-01 | |
2963 | 82 | T/S | 168 | None | 0.3177 | None | gnomAD-4.0.0 | 6.93105E-07 | |
2965 | 84 | T/K | 171 | rs1221486073 | 0.4171 | None | gnomAD-4.0.0 | 4.10926E-06 | |
2966 | 85 | V/I | 172 | None | 0.1247 | None | gnomAD-4.0.0 | 1.20062E-06 | |
2967 | 86 | T/A | 176 | rs1287851348 | 0.4240 | None | gnomAD-2.1.1 | 4.02E-06 | |
2967 | 86 | T/A | 176 | rs1287851348 | 0.4240 | None | gnomAD-4.0.0 | 1.59186E-06 | |
2967 | 86 | T/I | 176 | rs764554139 | 0.4240 | None | gnomAD-2.1.1 | 4.02E-06 | |
2967 | 86 | T/I | 176 | rs764554139 | 0.4240 | None | gnomAD-4.0.0 | 8.21399E-06 |