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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
6292 | 1 | P/S | 1 | rs1180688317 | 0.1317 | None | gnomAD-2.1.1 | 3.19E-05 | |
6292 | 1 | P/S | 1 | rs1180688317 | 0.1317 | None | gnomAD-3.1.2 | 6.57E-06 | |
6292 | 1 | P/S | 1 | rs1180688317 | 0.1317 | None | gnomAD-4.0.0 | 6.57436E-06 | |
6293 | 2 | S/P | 2 | rs1560769509 | 0.3454 | None | gnomAD-4.0.0 | 2.10097E-06 | |
6294 | 3 | F/L | 3 | rs953595241 | 0.1614 | None | gnomAD-4.0.0 | 6.9862E-07 | |
6295 | 4 | I/V | 4 | None | 0.6107 | None | gnomAD-4.0.0 | 3.34191E-06 | |
6296 | 5 | K/E | 5 | None | 0.6019 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6297 | 6 | K/E | 7 | None | 0.5081 | None | gnomAD-4.0.0 | 1.6573E-06 | |
6297 | 6 | K/R | 7 | rs1208730507 | 0.5081 | None | gnomAD-3.1.2 | 6.57E-06 | |
6297 | 6 | K/R | 7 | rs1208730507 | 0.5081 | None | gnomAD-4.0.0 | 2.02988E-06 | |
6298 | 7 | I/K | 8 | None | 0.1098 | None | gnomAD-4.0.0 | 7.64784E-06 | |
6298 | 7 | I/R | 8 | rs375571785 | 0.1098 | None | gnomAD-2.1.1 | 4.44E-06 | |
6298 | 7 | I/R | 8 | rs375571785 | 0.1098 | None | gnomAD-4.0.0 | 6.95258E-07 | |
6298 | 7 | I/T | 8 | rs375571785 | 0.1098 | None | gnomAD-2.1.1 | 5.45E-05 | |
6298 | 7 | I/T | 8 | rs375571785 | 0.1098 | None | gnomAD-3.1.2 | 7.23E-05 | |
6298 | 7 | I/T | 8 | rs375571785 | 0.1098 | None | 1000 genomes | 1.99681E-04 | |
6298 | 7 | I/T | 8 | rs375571785 | 0.1098 | None | gnomAD-4.0.0 | 3.08056E-05 | |
6299 | 8 | E/Q | 9 | rs2079911475 | 0.7822 | None | gnomAD-3.1.2 | 6.57E-06 | |
6299 | 8 | E/Q | 9 | rs2079911475 | 0.7822 | None | gnomAD-4.0.0 | 1.88389E-06 | |
6300 | 9 | N/S | 11 | None | 0.5811 | None | gnomAD-4.0.0 | 1.20033E-06 | |
6301 | 10 | T/S | 13 | rs755238352 | 0.2593 | None | gnomAD-2.1.1 | 4.32E-06 | |
6301 | 10 | T/S | 13 | rs755238352 | 0.2593 | None | gnomAD-4.0.0 | 1.63359E-06 | |
6302 | 11 | T/I | 14 | None | 0.4788 | None | gnomAD-4.0.0 | 6.90047E-07 | |
6302 | 11 | T/N | 14 | rs766831279 | 0.4788 | None | gnomAD-2.1.1 | 1.13E-05 | |
6302 | 11 | T/N | 14 | rs766831279 | 0.4788 | None | gnomAD-3.1.2 | 6.57E-06 | |
6302 | 11 | T/N | 14 | rs766831279 | 0.4788 | None | gnomAD-4.0.0 | 3.12243E-06 | |
6304 | 13 | V/I | 18 | None | 0.5467 | None | gnomAD-4.0.0 | 6.88716E-07 | |
6305 | 14 | L/F | 23 | rs1197830521 | 0.4581 | None | gnomAD-4.0.0 | 6.87102E-07 | |
6305 | 14 | L/W | 23 | rs1267771409 | 0.4581 | None | gnomAD-2.1.1 | 4.18E-06 | |
6307 | 16 | S/T | 25 | rs758691112 | 0.2360 | None | gnomAD-2.1.1 | 2.22E-05 | |
6307 | 16 | S/T | 25 | rs758691112 | 0.2360 | None | gnomAD-3.1.2 | 6.58E-06 | |
6307 | 16 | S/T | 25 | rs758691112 | 0.2360 | None | gnomAD-4.0.0 | 2.58073E-06 | |
6308 | 17 | S/P | 26 | rs1259623992 | 0.4528 | None | gnomAD-2.1.1 | 4.17E-06 | |
6308 | 17 | S/P | 26 | rs1259623992 | 0.4528 | None | gnomAD-4.0.0 | 2.05991E-06 | |
6309 | 18 | A/S | 28 | None | 0.1634 | None | gnomAD-4.0.0 | 1.60346E-06 | |
6313 | 22 | S/C | 33 | None | 0.0981 | None | gnomAD-4.0.0 | 1.59802E-06 | |
6313 | 22 | S/G | 33 | rs767114791 | 0.0981 | None | gnomAD-2.1.1 | 4.12E-06 | |
6313 | 22 | S/G | 33 | rs767114791 | 0.0981 | None | gnomAD-4.0.0 | 1.59802E-06 | |
6313 | 22 | S/T | 33 | rs200120672 | 0.0981 | None | gnomAD-2.1.1 | 9.39959E-04 | |
6313 | 22 | S/T | 33 | rs200120672 | 0.0981 | None | gnomAD-3.1.2 | 9.07095E-04 | |
6313 | 22 | S/T | 33 | rs200120672 | 0.0981 | None | 1000 genomes | 1.99681E-04 | |
6313 | 22 | S/T | 33 | rs200120672 | 0.0981 | None | gnomAD-4.0.0 | 3.58723E-04 | |
6315 | 24 | V/M | 35 | rs770552574 | 0.1258 | None | gnomAD-2.1.1 | 1.64E-05 | |
6315 | 24 | V/M | 35 | rs770552574 | 0.1258 | None | gnomAD-4.0.0 | 1.37044E-05 | |
6316 | 25 | A/G | 38 | None | 0.3144 | None | gnomAD-4.0.0 | 1.5959E-06 | |
6318 | 27 | S/C | 41 | None | 0.1732 | None | gnomAD-4.0.0 | 3.19025E-06 | |
6319 | 28 | P/L | 42 | rs2079901596 | 0.6487 | None | gnomAD-4.0.0 | 1.59475E-06 | |
6319 | 28 | P/S | 42 | rs749058126 | 0.6487 | None | gnomAD-2.1.1 | 8.17E-06 | |
6319 | 28 | P/S | 42 | rs749058126 | 0.6487 | None | gnomAD-4.0.0 | 2.05466E-05 | |
6320 | 29 | P/H | 43 | rs886246785 | 0.7953 | None | gnomAD-3.1.2 | 1.97E-05 | |
6320 | 29 | P/H | 43 | rs886246785 | 0.7953 | None | gnomAD-4.0.0 | 4.96173E-06 | |
6320 | 29 | P/L | 43 | None | 0.7953 | None | gnomAD-4.0.0 | 6.84815E-07 | |
6320 | 29 | P/R | 43 | None | 0.7953 | None | gnomAD-4.0.0 | 2.05445E-06 | |
6321 | 30 | I/V | 44 | rs145204073 | 0.1455 | None | gnomAD-2.1.1 | 4.95336E-04 | |
6321 | 30 | I/V | 44 | rs145204073 | 0.1455 | None | gnomAD-3.1.2 | 1.42064E-03 | |
6321 | 30 | I/V | 44 | rs145204073 | 0.1455 | None | 1000 genomes | 3.19489E-03 | |
6321 | 30 | I/V | 44 | rs145204073 | 0.1455 | None | gnomAD-4.0.0 | 2.59231E-04 | |
6322 | 31 | S/F | 45 | None | 0.3609 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6323 | 32 | I/L | 46 | rs2079899039 | 0.2053 | None | gnomAD-3.1.2 | 6.57E-06 | |
6323 | 32 | I/L | 46 | rs2079899039 | 0.2053 | None | gnomAD-4.0.0 | 1.86043E-06 | |
6324 | 33 | T/N | 47 | None | 0.3310 | None | gnomAD-4.0.0 | 3.42357E-06 | |
6324 | 33 | T/S | 47 | rs2079898671 | 0.3310 | None | gnomAD-4.0.0 | 1.36943E-06 | |
6329 | 38 | D/N | 52 | rs748054208 | 0.6715 | None | gnomAD-2.1.1 | 8.13E-06 | |
6329 | 38 | D/N | 52 | rs748054208 | 0.6715 | None | gnomAD-4.0.0 | 4.78127E-06 | |
6329 | 38 | D/V | 52 | rs781304014 | 0.6715 | None | gnomAD-2.1.1 | 4.06E-06 | |
6329 | 38 | D/V | 52 | rs781304014 | 0.6715 | None | gnomAD-4.0.0 | 4.7808E-06 | |
6331 | 40 | I/L | 56 | rs1198892837 | 0.6926 | None | gnomAD-2.1.1 | 4.06E-06 | |
6331 | 40 | I/L | 56 | rs1198892837 | 0.6926 | None | gnomAD-3.1.2 | 6.57E-06 | |
6331 | 40 | I/L | 56 | rs1198892837 | 0.6926 | None | gnomAD-4.0.0 | 3.72031E-06 | |
6332 | 41 | L/V | 58 | rs1441559155 | 0.2681 | None | gnomAD-2.1.1 | 4.06E-06 | |
6332 | 41 | L/V | 58 | rs1441559155 | 0.2681 | None | gnomAD-4.0.0 | 1.59358E-06 | |
6333 | 42 | D/Y | 59 | rs1275885460 | 0.8516 | None | gnomAD-2.1.1 | 4.06E-06 | |
6333 | 42 | D/Y | 59 | rs1275885460 | 0.8516 | None | gnomAD-4.0.0 | 1.59366E-06 | |
6334 | 43 | E/D | 70 | rs755041916 | 0.4376 | None | gnomAD-2.1.1 | 4.06E-06 | |
6334 | 43 | E/D | 70 | rs755041916 | 0.4376 | None | gnomAD-4.0.0 | 6.84613E-07 | |
6334 | 43 | E/G | 70 | rs2079893948 | 0.4376 | None | gnomAD-4.0.0 | 3.60097E-06 | |
6335 | 44 | D/G | 73 | rs72648951 | 0.4013 | None | gnomAD-2.1.1 | 3.03735E-03 | |
6335 | 44 | D/G | 73 | rs72648951 | 0.4013 | None | gnomAD-3.1.2 | 9.37455E-03 | |
6335 | 44 | D/G | 73 | rs72648951 | 0.4013 | None | 1000 genomes | 9.1853E-03 | |
6335 | 44 | D/G | 73 | rs72648951 | 0.4013 | None | gnomAD-4.0.0 | 1.66469E-03 | |
6335 | 44 | D/N | 73 | rs1346291126 | 0.4013 | None | gnomAD-2.1.1 | 4.06E-06 | |
6335 | 44 | D/N | 73 | rs1346291126 | 0.4013 | None | gnomAD-4.0.0 | 1.36926E-06 | |
6335 | 44 | D/V | 73 | None | 0.4013 | None | gnomAD-4.0.0 | 1.36923E-06 | |
6336 | 45 | D/E | 102 | rs1416824072 | 1.0899 | None | gnomAD-2.1.1 | 3.19E-05 | |
6336 | 45 | D/E | 102 | rs1416824072 | 1.0899 | None | gnomAD-3.1.2 | 6.57E-06 | |
6336 | 45 | D/E | 102 | rs1416824072 | 1.0899 | None | gnomAD-4.0.0 | 6.57255E-06 | |
6336 | 45 | D/G | 102 | rs780149886 | 1.0899 | None | gnomAD-2.1.1 | 7.2E-06 | |
6336 | 45 | D/G | 102 | rs780149886 | 1.0899 | None | gnomAD-3.1.2 | 6.57E-06 | |
6336 | 45 | D/G | 102 | rs780149886 | 1.0899 | None | gnomAD-4.0.0 | 5.58031E-06 | |
6337 | 46 | N/S | 115 | None | 0.2665 | None | gnomAD-4.0.0 | 1.59328E-06 | |
6339 | 48 | Y/C | 122 | rs192553687 | 0.4554 | None | gnomAD-2.1.1 | 1.1502E-04 | |
6339 | 48 | Y/C | 122 | rs192553687 | 0.4554 | None | gnomAD-3.1.2 | 2.10352E-04 | |
6339 | 48 | Y/C | 122 | rs192553687 | 0.4554 | None | gnomAD-4.0.0 | 3.65773E-04 | |
6339 | 48 | Y/D | 122 | None | 0.4554 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6342 | 51 | F/S | 127 | None | 0.3066 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6343 | 52 | V/A | 130 | None | 0.6405 | None | gnomAD-4.0.0 | 1.59318E-06 | |
6344 | 53 | D/E | 131 | rs750787195 | 0.8778 | None | gnomAD-4.0.0 | 8.21481E-06 | |
6345 | 54 | S/C | 134 | None | 0.3641 | None | gnomAD-4.0.0 | 6.84564E-07 | |
6345 | 54 | S/G | 134 | rs1447554517 | 0.3641 | None | gnomAD-2.1.1 | 4.05E-06 | |
6345 | 54 | S/G | 134 | rs1447554517 | 0.3641 | None | gnomAD-4.0.0 | 1.36913E-06 | |
6345 | 54 | S/R | 134 | None | 0.3641 | None | gnomAD-4.0.0 | 1.59315E-06 | |
6346 | 55 | V/M | 135 | rs537966944 | 0.2783 | None | gnomAD-2.1.1 | 2.51E-05 | |
6346 | 55 | V/M | 135 | rs537966944 | 0.2783 | None | gnomAD-3.1.2 | 1.97E-05 | |
6346 | 55 | V/M | 135 | rs537966944 | 0.2783 | None | 1000 genomes | 1.99681E-04 | |
6346 | 55 | V/M | 135 | rs537966944 | 0.2783 | None | gnomAD-4.0.0 | 3.40967E-05 | |
6348 | 57 | T/K | 137 | None | 0.1767 | None | gnomAD-4.0.0 | 1.59304E-06 | |
6349 | 58 | L/I | 138 | rs2079884280 | 0.0770 | None | gnomAD-3.1.2 | 6.57E-06 | |
6349 | 58 | L/I | 138 | rs2079884280 | 0.0770 | None | gnomAD-4.0.0 | 6.57428E-06 | |
6350 | 59 | Q/H | 139 | rs113892821 | 0.3728 | None | gnomAD-2.1.1 | 3.19E-05 | |
6350 | 59 | Q/H | 139 | rs113892821 | 0.3728 | None | gnomAD-3.1.2 | 6.57E-06 | |
6350 | 59 | Q/H | 139 | rs113892821 | 0.3728 | None | gnomAD-4.0.0 | 1.23992E-06 | |
6352 | 61 | R/G | 141 | rs569003242 | 0.5045 | None | gnomAD-2.1.1 | 1.62E-05 | |
6352 | 61 | R/G | 141 | rs569003242 | 0.5045 | None | gnomAD-3.1.2 | 3.29E-05 | |
6352 | 61 | R/G | 141 | rs569003242 | 0.5045 | None | 1000 genomes | 1.99681E-04 | |
6352 | 61 | R/G | 141 | rs569003242 | 0.5045 | None | gnomAD-4.0.0 | 8.67894E-06 | |
6352 | 61 | R/K | 141 | None | 0.5045 | None | gnomAD-4.0.0 | 1.59303E-06 | |
6353 | 62 | S/R | 143 | None | 0.3771 | None | gnomAD-4.0.0 | 1.36902E-06 | |
6354 | 63 | V/M | 144 | rs754383943 | 0.0954 | None | gnomAD-3.1.2 | 6.57E-06 | |
6354 | 63 | V/M | 144 | rs754383943 | 0.0954 | None | gnomAD-4.0.0 | 6.57358E-06 | |
6355 | 64 | D/H | 145 | rs188878341 | 0.3366 | None | gnomAD-2.1.1 | 4.05E-06 | |
6355 | 64 | D/H | 145 | rs188878341 | 0.3366 | None | gnomAD-4.0.0 | 1.36905E-06 | |
6355 | 64 | D/Y | 145 | rs188878341 | 0.3366 | None | gnomAD-2.1.1 | 2.15361E-04 | |
6355 | 64 | D/Y | 145 | rs188878341 | 0.3366 | None | gnomAD-3.1.2 | 6.31114E-04 | |
6355 | 64 | D/Y | 145 | rs188878341 | 0.3366 | None | 1000 genomes | 1.99681E-04 | |
6355 | 64 | D/Y | 145 | rs188878341 | 0.3366 | None | gnomAD-4.0.0 | 1.33284E-04 | |
6356 | 65 | N/I | 146 | rs773854949 | 0.7402 | None | gnomAD-2.1.1 | 4.05E-06 | |
6356 | 65 | N/I | 146 | rs773854949 | 0.7402 | None | gnomAD-3.1.2 | 6.57E-06 | |
6356 | 65 | N/I | 146 | rs773854949 | 0.7402 | None | gnomAD-4.0.0 | 7.43953E-06 | |
6356 | 65 | N/S | 146 | None | 0.7402 | None | gnomAD-4.0.0 | 6.84532E-07 | |
6357 | 66 | G/E | 148 | rs368765224 | 0.3475 | None | gnomAD-2.1.1 | 4.04E-06 | |
6357 | 66 | G/E | 148 | rs368765224 | 0.3475 | None | gnomAD-4.0.0 | 1.36908E-06 | |
6357 | 66 | G/V | 148 | rs368765224 | 0.3475 | None | gnomAD-2.1.1 | 4.04E-06 | |
6357 | 66 | G/V | 148 | rs368765224 | 0.3475 | None | gnomAD-4.0.0 | 6.84541E-07 | |
6359 | 68 | S/G | 151 | None | 0.2872 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6359 | 68 | S/N | 151 | rs2079878720 | 0.2872 | None | gnomAD-4.0.0 | 6.84571E-07 | |
6359 | 68 | S/R | 151 | None | 0.2872 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6359 | 68 | S/T | 151 | None | 0.2872 | None | gnomAD-4.0.0 | 6.84571E-07 | |
6360 | 69 | G/E | 152 | rs900886438 | 0.1684 | None | gnomAD-4.0.0 | 3.60097E-06 | |
6361 | 70 | R/S | 153 | None | 0.1872 | None | gnomAD-4.0.0 | 1.59354E-06 | |
6363 | 72 | T/A | 155 | None | 0.0845 | None | gnomAD-4.0.0 | 2.40064E-06 | |
6363 | 72 | T/I | 155 | rs148471999 | 0.0845 | None | gnomAD-4.0.0 | 1.30096E-05 | |
6363 | 72 | T/N | 155 | rs148471999 | 0.0845 | None | gnomAD-4.0.0 | 6.84714E-07 | |
6363 | 72 | T/S | 155 | rs1560766830 | 0.0845 | None | gnomAD-4.0.0 | 6.84714E-07 | |
6364 | 73 | C/Y | 156 | None | 0.0620 | None | gnomAD-4.0.0 | 6.85015E-07 | |
6365 | 74 | Q/R | 157 | rs762632541 | 0.2263 | None | gnomAD-2.1.1 | 4.05E-06 | |
6365 | 74 | Q/R | 157 | rs762632541 | 0.2263 | None | gnomAD-4.0.0 | 1.59546E-06 | |
6366 | 75 | A/D | 158 | None | 0.0888 | None | gnomAD-4.0.0 | 6.85068E-07 | |
6366 | 75 | A/G | 158 | None | 0.0888 | None | gnomAD-4.0.0 | 6.85068E-07 | |
6367 | 76 | K/N | 159 | rs769617600 | 0.5366 | None | gnomAD-2.1.1 | 8.11E-06 | |
6367 | 76 | K/N | 159 | rs769617600 | 0.5366 | None | gnomAD-4.0.0 | 1.30189E-05 | |
6368 | 77 | N/S | 161 | rs748146062 | 0.1240 | None | gnomAD-2.1.1 | 1.22E-05 | |
6368 | 77 | N/S | 161 | rs748146062 | 0.1240 | None | gnomAD-4.0.0 | 4.79001E-06 | |
6369 | 78 | E/G | 162 | None | 0.5400 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6369 | 78 | E/K | 162 | rs776552344 | 0.5400 | None | gnomAD-2.1.1 | 4.06E-06 | |
6369 | 78 | E/K | 162 | rs776552344 | 0.5400 | None | gnomAD-4.0.0 | 6.85388E-07 | |
6369 | 78 | E/Q | 162 | rs776552344 | 0.5400 | None | gnomAD-2.1.1 | 4.06E-06 | |
6369 | 78 | E/Q | 162 | rs776552344 | 0.5400 | None | gnomAD-4.0.0 | 3.42694E-06 | |
6372 | 81 | V/A | 165 | rs768519558 | 0.3837 | None | gnomAD-2.1.1 | 8.13E-06 | |
6372 | 81 | V/A | 165 | rs768519558 | 0.3837 | None | gnomAD-3.1.2 | 6.6E-06 | |
6372 | 81 | V/A | 165 | rs768519558 | 0.3837 | None | gnomAD-4.0.0 | 3.86539E-06 | |
6372 | 81 | V/G | 165 | rs768519558 | 0.3837 | None | gnomAD-2.1.1 | 4.06E-06 | |
6372 | 81 | V/G | 165 | rs768519558 | 0.3837 | None | gnomAD-4.0.0 | 1.60117E-06 | |
6373 | 82 | E/G | 166 | rs367868361 | 0.3211 | None | gnomAD-2.1.1 | 2.16E-05 | |
6373 | 82 | E/G | 166 | rs367868361 | 0.3211 | None | gnomAD-3.1.2 | 2.63E-05 | |
6373 | 82 | E/G | 166 | rs367868361 | 0.3211 | None | gnomAD-4.0.0 | 7.39472E-05 | |
6373 | 82 | E/K | 166 | rs1310419887 | 0.3211 | None | gnomAD-2.1.1 | 4.07E-06 | |
6375 | 84 | C/G | 169 | None | 0.0625 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6376 | 85 | Y/C | 171 | rs747117289 | 0.3730 | None | gnomAD-2.1.1 | 4.1E-06 | |
6376 | 85 | Y/C | 171 | rs747117289 | 0.3730 | None | gnomAD-4.0.0 | 1.37537E-06 | |
6377 | 86 | A/T | 172 | None | 0.0773 | None | gnomAD-4.0.0 | 1.37633E-06 | |
6377 | 86 | A/V | 172 | None | 0.0773 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6379 | 88 | L/F | 174 | rs1448772446 | 0.1045 | None | gnomAD-2.1.1 | 4.18E-06 | |
6379 | 88 | L/F | 174 | rs1448772446 | 0.1045 | None | gnomAD-4.0.0 | 1.38444E-06 | |
6381 | 90 | V/E | 177 | rs983816997 | 0.1828 | None | gnomAD-2.1.1 | 4.21E-06 | |
6381 | 90 | V/E | 177 | rs983816997 | 0.1828 | None | gnomAD-4.0.0 | 6.93177E-07 | |
6381 | 90 | V/I | 177 | None | 0.1828 | None | gnomAD-4.0.0 | 1.20032E-06 |