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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
13965 | 1 | V/A | 1 | None | 0.3654 | None | gnomAD-4.0.0 | 1.36897E-06 | |
13965 | 1 | V/F | 1 | rs1311645939 | 0.3654 | None | gnomAD-2.1.1 | 4.03E-06 | |
13965 | 1 | V/F | 1 | rs1311645939 | 0.3654 | None | gnomAD-4.0.0 | 1.59282E-06 | |
13965 | 1 | V/G | 1 | rs878854306 | 0.3654 | None | gnomAD-2.1.1 | 1.21E-05 | |
13965 | 1 | V/G | 1 | rs878854306 | 0.3654 | None | gnomAD-4.0.0 | 5.5791E-06 | |
13966 | 2 | E/Q | 2 | None | 0.7369 | None | gnomAD-4.0.0 | 1.59281E-06 | |
13968 | 4 | L/R | 4 | rs879228460 | 0.4204 | None | gnomAD-3.1.2 | 6.57E-06 | |
13968 | 4 | L/R | 4 | rs879228460 | 0.4204 | None | gnomAD-4.0.0 | 6.57393E-06 | |
13970 | 6 | P/Q | 7 | rs1347182960 | 0.3900 | None | gnomAD-2.1.1 | 4.03E-06 | |
13970 | 6 | P/Q | 7 | rs1347182960 | 0.3900 | None | gnomAD-3.1.2 | 6.58E-06 | |
13970 | 6 | P/Q | 7 | rs1347182960 | 0.3900 | None | gnomAD-4.0.0 | 2.56446E-06 | |
13970 | 6 | P/S | 7 | rs189799340 | 0.3900 | None | gnomAD-2.1.1 | 1.07296E-04 | |
13970 | 6 | P/S | 7 | rs189799340 | 0.3900 | None | gnomAD-3.1.2 | 3.95E-05 | |
13970 | 6 | P/S | 7 | rs189799340 | 0.3900 | None | 1000 genomes | 1.99681E-04 | |
13970 | 6 | P/S | 7 | rs189799340 | 0.3900 | None | gnomAD-4.0.0 | 1.7977E-05 | |
13971 | 7 | I/M | 8 | None | 0.0960 | None | gnomAD-4.0.0 | 1.59241E-06 | |
13973 | 9 | D/G | 11 | None | 0.5185 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13973 | 9 | D/N | 11 | None | 0.5185 | None | gnomAD-4.0.0 | 2.40064E-06 | |
13974 | 10 | V/D | 13 | None | 0.1485 | None | gnomAD-4.0.0 | 1.36881E-06 | |
13974 | 10 | V/I | 13 | rs373881831 | 0.1485 | None | gnomAD-2.1.1 | 3.93E-05 | |
13974 | 10 | V/I | 13 | rs373881831 | 0.1485 | None | gnomAD-3.1.2 | 4.6E-05 | |
13974 | 10 | V/I | 13 | rs373881831 | 0.1485 | None | gnomAD-4.0.0 | 3.34746E-05 | |
13975 | 11 | T/I | 14 | rs1417052657 | 0.4132 | None | gnomAD-3.1.2 | 1.32E-05 | |
13975 | 11 | T/I | 14 | rs1417052657 | 0.4132 | None | gnomAD-4.0.0 | 1.31572E-05 | |
13975 | 11 | T/N | 14 | rs1417052657 | 0.4132 | None | gnomAD-2.1.1 | 4.03E-06 | |
13975 | 11 | T/N | 14 | rs1417052657 | 0.4132 | None | gnomAD-4.0.0 | 1.36884E-06 | |
13975 | 11 | T/S | 14 | None | 0.4132 | None | gnomAD-4.0.0 | 1.36884E-06 | |
13976 | 12 | I/L | 16 | rs773772232 | 0.1104 | None | gnomAD-2.1.1 | 4.03E-06 | |
13976 | 12 | I/L | 16 | rs773772232 | 0.1104 | None | gnomAD-4.0.0 | 1.5923E-06 | |
13976 | 12 | I/N | 16 | None | 0.1104 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13977 | 13 | Y/F | 18 | None | 0.4309 | None | gnomAD-4.0.0 | 2.40064E-06 | |
13978 | 14 | E/G | 23 | rs1275851499 | 0.3085 | None | gnomAD-3.1.2 | 1.31E-05 | |
13978 | 14 | E/G | 23 | rs1275851499 | 0.3085 | None | gnomAD-4.0.0 | 1.3148E-05 | |
13978 | 14 | E/K | 23 | rs746667196 | 0.3085 | None | gnomAD-2.1.1 | 2.01E-05 | |
13978 | 14 | E/K | 23 | rs746667196 | 0.3085 | None | gnomAD-3.1.2 | 1.97E-05 | |
13978 | 14 | E/K | 23 | rs746667196 | 0.3085 | None | gnomAD-4.0.0 | 5.20708E-05 | |
13979 | 15 | K/R | 24 | rs1559980687 | 0.5289 | None | gnomAD-2.1.1 | 4.03E-06 | |
13979 | 15 | K/R | 24 | rs1559980687 | 0.5289 | None | gnomAD-4.0.0 | 1.59234E-06 | |
13982 | 18 | A/S | 28 | rs865925187 | 0.1033 | None | gnomAD-4.0.0 | 2.05324E-06 | |
13982 | 18 | A/T | 28 | rs865925187 | 0.1033 | None | gnomAD-4.0.0 | 6.84412E-07 | |
13982 | 18 | A/V | 28 | rs1344724361 | 0.1033 | None | gnomAD-3.1.2 | 6.58E-06 | |
13982 | 18 | A/V | 28 | rs1344724361 | 0.1033 | None | gnomAD-4.0.0 | 6.57825E-06 | |
13985 | 21 | D/E | 31 | None | 0.3658 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13985 | 21 | D/G | 31 | rs779561282 | 0.3658 | None | gnomAD-2.1.1 | 4.02E-06 | |
13985 | 21 | D/G | 31 | rs779561282 | 0.3658 | None | gnomAD-4.0.0 | 4.77681E-06 | |
13986 | 22 | A/G | 33 | None | 0.0884 | None | gnomAD-4.0.0 | 1.59234E-06 | |
13986 | 22 | A/T | 33 | rs1208784748 | 0.0884 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13987 | 23 | E/A | 34 | rs2060288635 | 0.2289 | None | gnomAD-3.1.2 | 6.57E-06 | |
13987 | 23 | E/A | 34 | rs2060288635 | 0.2289 | None | gnomAD-4.0.0 | 6.57454E-06 | |
13988 | 24 | I/M | 35 | rs745782442 | 0.1146 | None | gnomAD-2.1.1 | 4.02E-06 | |
13988 | 24 | I/M | 35 | rs745782442 | 0.1146 | None | gnomAD-4.0.0 | 1.59231E-06 | |
13988 | 24 | I/V | 35 | None | 0.1146 | None | gnomAD-4.0.0 | 1.59224E-06 | |
13990 | 26 | E/D | 40 | None | 0.4846 | None | gnomAD-4.0.0 | 1.36881E-06 | |
13991 | 27 | A/S | 41 | rs1247699000 | 0.3704 | None | gnomAD-2.1.1 | 4.02E-06 | |
13991 | 27 | A/S | 41 | rs1247699000 | 0.3704 | None | gnomAD-4.0.0 | 1.5923E-06 | |
13992 | 28 | D/G | 42 | None | 0.7039 | None | gnomAD-4.0.0 | 5.47514E-06 | |
13992 | 28 | D/H | 42 | rs778681628 | 0.7039 | None | gnomAD-2.1.1 | 8.05E-06 | |
13992 | 28 | D/H | 42 | rs778681628 | 0.7039 | None | gnomAD-4.0.0 | 3.18458E-06 | |
13992 | 28 | D/V | 42 | None | 0.7039 | None | gnomAD-4.0.0 | 6.84392E-07 | |
13993 | 29 | I/V | 44 | rs978359923 | 0.2515 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13994 | 30 | P/L | 45 | rs1380914730 | 0.7339 | None | gnomAD-2.1.1 | 4.02E-06 | |
13994 | 30 | P/L | 45 | rs1380914730 | 0.7339 | None | gnomAD-4.0.0 | 1.36881E-06 | |
13994 | 30 | P/S | 45 | rs201232835 | 0.7339 | None | gnomAD-2.1.1 | 3.62E-05 | |
13994 | 30 | P/S | 45 | rs201232835 | 0.7339 | None | gnomAD-3.1.2 | 1.97E-05 | |
13994 | 30 | P/S | 45 | rs201232835 | 0.7339 | None | gnomAD-4.0.0 | 1.17782E-05 | |
13994 | 30 | P/T | 45 | rs201232835 | 0.7339 | None | gnomAD-2.1.1 | 4.02E-06 | |
13994 | 30 | P/T | 45 | rs201232835 | 0.7339 | None | gnomAD-4.0.0 | 1.36883E-06 | |
13996 | 32 | Q/R | 47 | rs756260320 | 0.6423 | None | gnomAD-2.1.1 | 4.03E-06 | |
13996 | 32 | Q/R | 47 | rs756260320 | 0.6423 | None | gnomAD-4.0.0 | 1.50604E-05 | |
13998 | 34 | K/N | 49 | None | 0.3197 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13998 | 34 | K/Q | 49 | None | 0.3197 | None | gnomAD-4.0.0 | 1.5931E-06 | |
13998 | 34 | K/T | 49 | None | 0.3197 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14001 | 37 | G/A | 52 | None | 0.4338 | None | gnomAD-4.0.0 | 1.59325E-06 | |
14001 | 37 | G/R | 52 | rs866553786 | 0.4338 | None | gnomAD-2.1.1 | 4.03E-06 | |
14001 | 37 | G/R | 52 | rs866553786 | 0.4338 | None | gnomAD-3.1.2 | 6.58E-06 | |
14001 | 37 | G/R | 52 | rs866553786 | 0.4338 | None | gnomAD-4.0.0 | 2.56512E-06 | |
14002 | 38 | E/K | 55 | None | 0.8091 | None | gnomAD-4.0.0 | 2.05374E-06 | |
14003 | 39 | L/F | 56 | rs767585297 | 0.5148 | None | gnomAD-2.1.1 | 1.21E-05 | |
14003 | 39 | L/F | 56 | rs767585297 | 0.5148 | None | gnomAD-3.1.2 | 1.32E-05 | |
14003 | 39 | L/F | 56 | rs767585297 | 0.5148 | None | gnomAD-4.0.0 | 6.41248E-06 | |
14003 | 39 | L/P | 56 | rs1162691488 | 0.5148 | None | gnomAD-2.1.1 | 4.03E-06 | |
14003 | 39 | L/P | 56 | rs1162691488 | 0.5148 | None | gnomAD-4.0.0 | 2.05369E-06 | |
14003 | 39 | L/R | 56 | None | 0.5148 | None | gnomAD-4.0.0 | 6.84563E-07 | |
14005 | 41 | R/S | 59 | None | 0.7797 | None | gnomAD-4.0.0 | 1.59332E-06 | |
14006 | 42 | P/L | 70 | None | 0.6222 | None | gnomAD-4.0.0 | 3.60099E-06 | |
14006 | 42 | P/S | 70 | None | 0.6222 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14008 | 44 | P/A | 111 | rs1455864622 | 0.8843 | None | gnomAD-2.1.1 | 3.19E-05 | |
14008 | 44 | P/A | 111 | rs1455864622 | 0.8843 | None | gnomAD-3.1.2 | 6.58E-06 | |
14008 | 44 | P/A | 111 | rs1455864622 | 0.8843 | None | gnomAD-4.0.0 | 6.57644E-06 | |
14008 | 44 | P/H | 111 | rs751709914 | 0.8843 | None | gnomAD-2.1.1 | 8.07E-06 | |
14008 | 44 | P/H | 111 | rs751709914 | 0.8843 | None | gnomAD-4.0.0 | 5.47761E-06 | |
14008 | 44 | P/L | 111 | rs751709914 | 0.8843 | None | gnomAD-2.1.1 | 2.86E-05 | |
14008 | 44 | P/L | 111 | rs751709914 | 0.8843 | None | gnomAD-3.1.2 | 4.6E-05 | |
14008 | 44 | P/L | 111 | rs751709914 | 0.8843 | None | gnomAD-4.0.0 | 3.90688E-05 | |
14008 | 44 | P/S | 111 | None | 0.8843 | None | gnomAD-4.0.0 | 1.20034E-06 | |
14011 | 47 | E/K | 122 | None | 0.3952 | None | gnomAD-4.0.0 | 1.60873E-06 | |
14012 | 48 | I/V | 123 | rs1425644741 | 0.2663 | None | gnomAD-4.0.0 | 6.42164E-06 | |
14013 | 49 | K/T | 125 | rs1188399173 | 0.4686 | None | gnomAD-3.1.2 | 6.57E-06 | |
14013 | 49 | K/T | 125 | rs1188399173 | 0.4686 | None | gnomAD-4.0.0 | 5.1503E-06 | |
14014 | 50 | A/E | 127 | rs1200308695 | 0.4845 | None | gnomAD-2.1.1 | 4.08E-06 | |
14014 | 50 | A/E | 127 | rs1200308695 | 0.4845 | None | gnomAD-4.0.0 | 1.60109E-06 | |
14015 | 51 | E/K | 130 | rs2060226377 | 0.7890 | None | gnomAD-4.0.0 | 1.59968E-06 | |
14015 | 51 | E/V | 130 | None | 0.7890 | None | gnomAD-4.0.0 | 1.59987E-06 | |
14016 | 52 | G/C | 131 | None | 0.4283 | None | gnomAD-4.0.0 | 6.85578E-07 | |
14016 | 52 | G/R | 131 | rs367751077 | 0.4283 | None | gnomAD-2.1.1 | 1.22E-05 | |
14016 | 52 | G/R | 131 | rs367751077 | 0.4283 | None | gnomAD-3.1.2 | 3.29E-05 | |
14016 | 52 | G/R | 131 | rs367751077 | 0.4283 | None | gnomAD-4.0.0 | 1.9246E-05 | |
14016 | 52 | G/S | 131 | rs367751077 | 0.4283 | None | gnomAD-2.1.1 | 1.63E-05 | |
14016 | 52 | G/S | 131 | rs367751077 | 0.4283 | None | gnomAD-3.1.2 | 1.97E-05 | |
14016 | 52 | G/S | 131 | rs367751077 | 0.4283 | None | gnomAD-4.0.0 | 1.05543E-05 | |
14017 | 53 | G/R | 134 | rs1161979802 | 0.1455 | None | gnomAD-3.1.2 | 6.57E-06 | |
14017 | 53 | G/R | 134 | rs1161979802 | 0.1455 | None | gnomAD-4.0.0 | 2.57034E-06 | |
14018 | 54 | K/N | 135 | rs766572300 | 0.3869 | None | gnomAD-2.1.1 | 4.06E-06 | |
14018 | 54 | K/N | 135 | rs766572300 | 0.3869 | None | gnomAD-4.0.0 | 2.05553E-06 | |
14019 | 55 | R/C | 136 | rs763499817 | 0.0946 | None | gnomAD-2.1.1 | 8.11E-06 | |
14019 | 55 | R/C | 136 | rs763499817 | 0.0946 | None | gnomAD-3.1.2 | 1.32E-05 | |
14019 | 55 | R/C | 136 | rs763499817 | 0.0946 | None | gnomAD-4.0.0 | 1.055E-05 | |
14019 | 55 | R/H | 136 | rs374683153 | 0.0946 | None | gnomAD-2.1.1 | 2.01348E-04 | |
14019 | 55 | R/H | 136 | rs374683153 | 0.0946 | None | gnomAD-3.1.2 | 6.58E-05 | |
14019 | 55 | R/H | 136 | rs374683153 | 0.0946 | None | 1000 genomes | 5.99042E-04 | |
14019 | 55 | R/H | 136 | rs374683153 | 0.0946 | None | gnomAD-4.0.0 | 1.27817E-04 | |
14019 | 55 | R/P | 136 | rs374683153 | 0.0946 | None | gnomAD-2.1.1 | 4.05E-06 | |
14019 | 55 | R/P | 136 | rs374683153 | 0.0946 | None | gnomAD-4.0.0 | 6.8515E-07 | |
14021 | 57 | L/F | 138 | None | 0.0762 | None | gnomAD-4.0.0 | 6.8478E-07 | |
14024 | 60 | H/P | 141 | None | 0.4264 | None | gnomAD-4.0.0 | 3.42318E-06 | |
14024 | 60 | H/Q | 141 | rs1276854895 | 0.4264 | None | gnomAD-2.1.1 | 4.03E-06 | |
14024 | 60 | H/Q | 141 | rs1276854895 | 0.4264 | None | gnomAD-4.0.0 | 1.59357E-06 | |
14024 | 60 | H/R | 141 | rs2288563 | 0.4264 | None | gnomAD-2.1.1 | 2.85073E-02 | |
14024 | 60 | H/R | 141 | rs2288563 | 0.4264 | None | gnomAD-3.1.2 | 2.15088E-02 | |
14024 | 60 | H/R | 141 | rs2288563 | 0.4264 | None | 1000 genomes | 3.05511E-02 | |
14024 | 60 | H/R | 141 | rs2288563 | 0.4264 | None | gnomAD-4.0.0 | 2.36264E-02 | |
14025 | 61 | K/E | 143 | rs762241231 | 0.8217 | None | gnomAD-2.1.1 | 4.03E-06 | |
14025 | 61 | K/E | 143 | rs762241231 | 0.8217 | None | gnomAD-4.0.0 | 6.84613E-06 | |
14025 | 61 | K/R | 143 | None | 0.8217 | None | gnomAD-4.0.0 | 1.59342E-06 | |
14026 | 62 | V/L | 144 | None | 0.1140 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14028 | 64 | L/M | 146 | rs777098368 | 0.5577 | None | gnomAD-4.0.0 | 6.84567E-07 | |
14029 | 65 | D/N | 148 | rs794729426 | 0.6086 | None | gnomAD-3.1.2 | 6.58E-06 | |
14029 | 65 | D/N | 148 | rs794729426 | 0.6086 | None | gnomAD-4.0.0 | 5.12963E-06 | |
14032 | 68 | G/D | 152 | None | 0.2057 | None | gnomAD-4.0.0 | 1.59272E-06 | |
14032 | 68 | G/R | 152 | None | 0.2057 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14032 | 68 | G/S | 152 | rs2060219895 | 0.2057 | None | gnomAD-3.1.2 | 6.58E-06 | |
14032 | 68 | G/S | 152 | rs2060219895 | 0.2057 | None | gnomAD-4.0.0 | 6.57523E-06 | |
14032 | 68 | G/V | 152 | rs1407857451 | 0.2057 | None | gnomAD-2.1.1 | 4.03E-06 | |
14033 | 69 | E/D | 153 | rs759297459 | 0.4751 | None | gnomAD-2.1.1 | 4.02E-06 | |
14033 | 69 | E/D | 153 | rs759297459 | 0.4751 | None | gnomAD-4.0.0 | 6.84451E-07 | |
14035 | 71 | L/F | 155 | rs1433887768 | 0.2386 | None | gnomAD-2.1.1 | 8.05E-06 | |
14035 | 71 | L/F | 155 | rs1433887768 | 0.2386 | None | gnomAD-3.1.2 | 6.58E-06 | |
14035 | 71 | L/F | 155 | rs1433887768 | 0.2386 | None | gnomAD-4.0.0 | 8.05933E-06 | |
14036 | 72 | Y/H | 156 | None | 0.0992 | None | gnomAD-4.0.0 | 3.18513E-06 | |
14038 | 74 | A/T | 158 | rs2060216548 | 0.1326 | None | gnomAD-4.0.0 | 3.42228E-06 | |
14039 | 75 | L/F | 159 | None | 0.7320 | None | gnomAD-4.0.0 | 2.73785E-06 | |
14040 | 76 | N/Y | 161 | rs2154228320 | 0.6038 | None | gnomAD-3.1.2 | 6.58E-06 | |
14040 | 76 | N/Y | 161 | rs2154228320 | 0.6038 | None | gnomAD-4.0.0 | 6.57056E-06 | |
14041 | 77 | A/V | 162 | rs1174010742 | 0.1351 | None | gnomAD-2.1.1 | 4.02E-06 | |
14041 | 77 | A/V | 162 | rs1174010742 | 0.1351 | None | gnomAD-4.0.0 | 3.18534E-06 | |
14043 | 79 | T/P | 164 | None | 0.1244 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14045 | 81 | A/G | 166 | None | 0.0877 | None | gnomAD-4.0.0 | 6.84505E-07 | |
14045 | 81 | A/V | 166 | None | 0.0877 | None | gnomAD-4.0.0 | 1.36901E-06 | |
14046 | 82 | I/T | 168 | rs776291578 | 0.3499 | None | gnomAD-3.1.2 | 6.58E-06 | |
14046 | 82 | I/T | 168 | rs776291578 | 0.3499 | None | gnomAD-4.0.0 | 3.71985E-06 | |
14046 | 82 | I/V | 168 | None | 0.3499 | None | gnomAD-4.0.0 | 3.60097E-06 | |
14048 | 84 | T/I | 171 | rs1362774927 | 0.3158 | None | gnomAD-2.1.1 | 4.02E-06 | |
14048 | 84 | T/I | 171 | rs1362774927 | 0.3158 | None | gnomAD-4.0.0 | 1.59287E-06 | |
14049 | 85 | V/L | 172 | rs1206523368 | 0.1564 | None | gnomAD-4.0.0 | 1.59282E-06 |