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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 |
---|---|---|---|---|---|---|---|---|---|
22561 | 2 | L/F | 14 | rs876658076 | 0.6825 | None | gnomAD-4.0.0 | 1.38023E-06 | |
22562 | 3 | A/D | 16 | rs776797528 | 0.1140 | None | gnomAD-2.1.1 | 1.65E-05 | |
22562 | 3 | A/D | 16 | rs776797528 | 0.1140 | None | gnomAD-4.0.0 | 1.13188E-05 | |
22562 | 3 | A/P | 16 | rs747962210 | 0.1140 | None | gnomAD-2.1.1 | 4.15E-06 | |
22562 | 3 | A/P | 16 | rs747962210 | 0.1140 | None | gnomAD-4.0.0 | 1.62293E-06 | |
22564 | 5 | E/D | 23 | None | 0.3395 | None | gnomAD-4.0.0 | 1.6116E-06 | |
22564 | 5 | E/G | 23 | rs559039977 | 0.3395 | None | gnomAD-2.1.1 | 4.1E-06 | |
22564 | 5 | E/G | 23 | rs559039977 | 0.3395 | None | gnomAD-3.1.2 | 6.57E-06 | |
22564 | 5 | E/G | 23 | rs559039977 | 0.3395 | None | 1000 genomes | 1.99681E-04 | |
22564 | 5 | E/G | 23 | rs559039977 | 0.3395 | None | gnomAD-4.0.0 | 6.56987E-06 | |
22564 | 5 | E/K | 23 | rs2047149895 | 0.3395 | None | gnomAD-3.1.2 | 6.58E-06 | |
22564 | 5 | E/K | 23 | rs2047149895 | 0.3395 | None | gnomAD-4.0.0 | 6.57748E-06 | |
22565 | 6 | N/K | 24 | None | 0.6564 | None | gnomAD-4.0.0 | 6.87856E-07 | |
22567 | 8 | N/D | 26 | rs2047147885 | 0.5374 | None | gnomAD-4.0.0 | 6.43318E-06 | |
22567 | 8 | N/S | 26 | None | 0.5374 | None | gnomAD-4.0.0 | 1.37442E-06 | |
22569 | 10 | R/Q | 29 | rs185620750 | 0.5231 | None | gnomAD-2.1.1 | 1.62599E-04 | |
22569 | 10 | R/Q | 29 | rs185620750 | 0.5231 | None | gnomAD-3.1.2 | 2.82876E-04 | |
22569 | 10 | R/Q | 29 | rs185620750 | 0.5231 | None | 1000 genomes | 1.99681E-04 | |
22569 | 10 | R/Q | 29 | rs185620750 | 0.5231 | None | gnomAD-4.0.0 | 7.40089E-05 | |
22569 | 10 | R/W | 29 | rs746313264 | 0.5231 | None | gnomAD-2.1.1 | 3.97E-05 | |
22569 | 10 | R/W | 29 | rs746313264 | 0.5231 | None | gnomAD-3.1.2 | 5.26E-05 | |
22569 | 10 | R/W | 29 | rs746313264 | 0.5231 | None | gnomAD-4.0.0 | 3.04839E-05 | |
22570 | 11 | L/F | 30 | rs1198941645 | 0.1735 | None | gnomAD-2.1.1 | 3.19E-05 | |
22570 | 11 | L/F | 30 | rs1198941645 | 0.1735 | None | gnomAD-3.1.2 | 6.58E-06 | |
22570 | 11 | L/F | 30 | rs1198941645 | 0.1735 | None | gnomAD-4.0.0 | 6.57756E-06 | |
22570 | 11 | L/V | 30 | rs1198941645 | 0.1735 | None | gnomAD-2.1.1 | 4.06E-06 | |
22570 | 11 | L/V | 30 | rs1198941645 | 0.1735 | None | gnomAD-4.0.0 | 1.60501E-06 | |
22571 | 12 | K/M | 31 | None | 0.5281 | None | gnomAD-4.0.0 | 1.60181E-06 | |
22571 | 12 | K/N | 31 | None | 0.5281 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22572 | 13 | I/F | 33 | rs779301386 | 0.1422 | None | gnomAD-2.1.1 | 4.05E-06 | |
22572 | 13 | I/F | 33 | rs779301386 | 0.1422 | None | gnomAD-4.0.0 | 1.60123E-06 | |
22573 | 14 | P/S | 34 | rs767245563 | 0.4013 | None | gnomAD-2.1.1 | 4.04E-06 | |
22573 | 14 | P/S | 34 | rs767245563 | 0.4013 | None | gnomAD-4.0.0 | 1.60013E-06 | |
22574 | 15 | I/M | 35 | None | 0.1179 | None | gnomAD-4.0.0 | 6.85482E-07 | |
22574 | 15 | I/V | 35 | rs754723277 | 0.1179 | None | gnomAD-2.1.1 | 4.04E-06 | |
22574 | 15 | I/V | 35 | rs754723277 | 0.1179 | None | gnomAD-4.0.0 | 3.19679E-06 | |
22576 | 17 | G/S | 40 | rs751016349 | 0.1931 | None | gnomAD-2.1.1 | 2.42E-05 | |
22576 | 17 | G/S | 40 | rs751016349 | 0.1931 | None | gnomAD-3.1.2 | 4.6E-05 | |
22576 | 17 | G/S | 40 | rs751016349 | 0.1931 | None | gnomAD-4.0.0 | 1.67572E-05 | |
22581 | 22 | S/T | 45 | rs1318211232 | 0.4628 | None | gnomAD-3.1.2 | 1.32E-05 | |
22581 | 22 | S/T | 45 | rs1318211232 | 0.4628 | None | gnomAD-4.0.0 | 5.12877E-06 | |
22582 | 23 | V/A | 46 | None | 0.3024 | None | gnomAD-4.0.0 | 2.40064E-06 | |
22583 | 24 | S/Y | 47 | None | 0.4323 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22584 | 25 | W/C | 48 | rs750330303 | 0.2027 | None | gnomAD-2.1.1 | 8.05E-06 | |
22584 | 25 | W/C | 48 | rs750330303 | 0.2027 | None | gnomAD-4.0.0 | 2.05326E-06 | |
22584 | 25 | W/G | 48 | rs762387858 | 0.2027 | None | gnomAD-2.1.1 | 7.15E-06 | |
22584 | 25 | W/G | 48 | rs762387858 | 0.2027 | None | gnomAD-3.1.2 | 1.32E-05 | |
22584 | 25 | W/G | 48 | rs762387858 | 0.2027 | None | gnomAD-4.0.0 | 5.57914E-06 | |
22585 | 26 | K/N | 49 | rs2047135173 | 0.3709 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22585 | 26 | K/R | 49 | None | 0.3709 | None | gnomAD-4.0.0 | 1.36881E-06 | |
22586 | 27 | K/T | 50 | None | 0.2247 | None | gnomAD-4.0.0 | 3.18452E-06 | |
22588 | 29 | E/K | 52 | None | 0.7362 | None | gnomAD-4.0.0 | 1.59225E-06 | |
22589 | 30 | D/V | 55 | None | 0.7001 | None | gnomAD-4.0.0 | 6.00161E-06 | |
22591 | 32 | L/V | 58 | None | 0.2236 | None | gnomAD-4.0.0 | 6.84365E-07 | |
22592 | 33 | A/E | 69 | None | 0.6202 | None | gnomAD-4.0.0 | 2.73748E-06 | |
22592 | 33 | A/S | 69 | rs761567421 | 0.6202 | None | gnomAD-2.1.1 | 4.02E-06 | |
22592 | 33 | A/S | 69 | rs761567421 | 0.6202 | None | gnomAD-4.0.0 | 1.36872E-06 | |
22592 | 33 | A/V | 69 | rs776461045 | 0.6202 | None | gnomAD-2.1.1 | 4.02E-06 | |
22592 | 33 | A/V | 69 | rs776461045 | 0.6202 | None | gnomAD-4.0.0 | 1.36874E-06 | |
22593 | 34 | T/S | 70 | None | 0.5591 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22594 | 35 | D/V | 73 | rs369911767 | 0.4284 | None | gnomAD-2.1.1 | 2.41E-05 | |
22594 | 35 | D/V | 73 | rs369911767 | 0.4284 | None | gnomAD-3.1.2 | 8.55E-05 | |
22594 | 35 | D/V | 73 | rs369911767 | 0.4284 | None | gnomAD-4.0.0 | 1.36365E-05 | |
22595 | 36 | T/A | 102 | rs1438797997 | 0.9476 | None | gnomAD-3.1.2 | 6.58E-06 | |
22595 | 36 | T/A | 102 | rs1438797997 | 0.9476 | None | gnomAD-4.0.0 | 4.33886E-06 | |
22596 | 37 | R/G | 115 | rs761026013 | 0.2007 | None | gnomAD-2.1.1 | 8.04E-06 | |
22596 | 37 | R/G | 115 | rs761026013 | 0.2007 | None | gnomAD-4.0.0 | 4.7905E-06 | |
22596 | 37 | R/T | 115 | rs1197078573 | 0.2007 | None | gnomAD-2.1.1 | 4.02E-06 | |
22596 | 37 | R/T | 115 | rs1197078573 | 0.2007 | None | gnomAD-4.0.0 | 3.18399E-06 | |
22598 | 39 | S/R | 122 | rs960274505 | 0.2729 | None | gnomAD-2.1.1 | 1.61E-05 | |
22598 | 39 | S/R | 122 | rs960274505 | 0.2729 | None | gnomAD-3.1.2 | 6.57E-06 | |
22598 | 39 | S/R | 122 | rs960274505 | 0.2729 | None | gnomAD-4.0.0 | 6.57497E-06 | |
22598 | 39 | S/T | 122 | None | 0.2729 | None | gnomAD-4.0.0 | 1.59194E-06 | |
22600 | 41 | E/K | 125 | None | 0.4487 | None | gnomAD-4.0.0 | 6.84331E-07 | |
22601 | 42 | S/T | 127 | rs1035871236 | 0.4589 | None | gnomAD-3.1.2 | 6.58E-06 | |
22601 | 42 | S/T | 127 | rs1035871236 | 0.4589 | None | gnomAD-4.0.0 | 6.5773E-06 | |
22602 | 43 | S/C | 130 | None | 0.3170 | None | gnomAD-4.0.0 | 8.40227E-06 | |
22602 | 43 | S/F | 130 | None | 0.3170 | None | gnomAD-4.0.0 | 2.40065E-06 | |
22602 | 43 | S/P | 130 | rs780276317 | 0.3170 | None | gnomAD-4.0.0 | 1.59188E-06 | |
22603 | 44 | A/V | 131 | rs199583938 | 0.5595 | None | gnomAD-2.1.1 | 4.64E-05 | |
22603 | 44 | A/V | 131 | rs199583938 | 0.5595 | None | gnomAD-3.1.2 | 9.87E-05 | |
22603 | 44 | A/V | 131 | rs199583938 | 0.5595 | None | gnomAD-4.0.0 | 3.96696E-05 | |
22607 | 48 | T/I | 137 | rs771603862 | 0.1223 | None | gnomAD-2.1.1 | 4.83E-05 | |
22607 | 48 | T/I | 137 | rs771603862 | 0.1223 | None | gnomAD-3.1.2 | 2.63E-05 | |
22607 | 48 | T/I | 137 | rs771603862 | 0.1223 | None | gnomAD-4.0.0 | 2.41736E-05 | |
22608 | 49 | L/F | 138 | rs749645303 | 0.1010 | None | gnomAD-4.0.0 | 1.59189E-06 | |
22609 | 50 | I/M | 139 | rs751153093 | 0.1423 | None | gnomAD-2.1.1 | 1.21E-05 | |
22609 | 50 | I/M | 139 | rs751153093 | 0.1423 | None | gnomAD-4.0.0 | 8.89618E-06 | |
22609 | 50 | I/R | 139 | None | 0.1423 | None | gnomAD-4.0.0 | 6.8433E-07 | |
22609 | 50 | I/T | 139 | rs778337241 | 0.1423 | None | gnomAD-2.1.1 | 2.41E-05 | |
22609 | 50 | I/T | 139 | rs778337241 | 0.1423 | None | gnomAD-3.1.2 | 6.58E-06 | |
22609 | 50 | I/T | 139 | rs778337241 | 0.1423 | None | gnomAD-4.0.0 | 1.61156E-05 | |
22610 | 51 | V/M | 140 | None | 0.0843 | None | gnomAD-4.0.0 | 3.18377E-06 | |
22612 | 53 | D/G | 143 | None | 0.5469 | None | gnomAD-4.0.0 | 1.59178E-06 | |
22612 | 53 | D/N | 143 | rs757888367 | 0.5469 | None | gnomAD-2.1.1 | 1.21E-05 | |
22612 | 53 | D/N | 143 | rs757888367 | 0.5469 | None | gnomAD-3.1.2 | 1.32E-05 | |
22612 | 53 | D/N | 143 | rs757888367 | 0.5469 | None | gnomAD-4.0.0 | 2.1074E-05 | |
22615 | 56 | K/I | 146 | rs372296363 | 0.6228 | None | gnomAD-2.1.1 | 4.02E-06 | |
22615 | 56 | K/I | 146 | rs372296363 | 0.6228 | None | gnomAD-4.0.0 | 9.55098E-06 | |
22617 | 58 | D/H | 149 | None | 0.1644 | None | gnomAD-4.0.0 | 1.59181E-06 | |
22618 | 59 | A/T | 151 | None | 0.2561 | None | gnomAD-4.0.0 | 1.59182E-06 | |
22619 | 60 | G/E | 152 | rs886055252 | 0.2736 | None | gnomAD-4.0.0 | 2.40065E-06 | |
22621 | 62 | Y/C | 154 | None | 0.1304 | None | gnomAD-4.0.0 | 1.59198E-06 | |
22622 | 63 | T/A | 155 | None | 0.2231 | None | gnomAD-4.0.0 | 3.18415E-06 | |
22623 | 64 | I/N | 156 | rs765139811 | 0.1132 | None | gnomAD-2.1.1 | 4.02E-06 | |
22623 | 64 | I/N | 156 | rs765139811 | 0.1132 | None | gnomAD-4.0.0 | 6.84343E-07 | |
22623 | 64 | I/S | 156 | None | 0.1132 | None | gnomAD-4.0.0 | 6.84343E-07 | |
22623 | 64 | I/T | 156 | None | 0.1132 | None | gnomAD-4.0.0 | 2.73737E-06 | |
22624 | 65 | T/I | 157 | None | 0.2411 | None | gnomAD-4.0.0 | 1.59209E-06 | |
22624 | 65 | T/K | 157 | rs761798459 | 0.2411 | None | gnomAD-2.1.1 | 4.02E-06 | |
22624 | 65 | T/K | 157 | rs761798459 | 0.2411 | None | gnomAD-4.0.0 | 1.59209E-06 | |
22625 | 66 | L/V | 158 | rs753627819 | 0.1070 | None | gnomAD-2.1.1 | 4.02E-06 | |
22625 | 66 | L/V | 158 | rs753627819 | 0.1070 | None | gnomAD-4.0.0 | 1.59208E-06 | |
22626 | 67 | K/E | 159 | rs763810229 | 0.5925 | None | gnomAD-2.1.1 | 4.02E-06 | |
22626 | 67 | K/E | 159 | rs763810229 | 0.5925 | None | gnomAD-4.0.0 | 8.21192E-06 | |
22627 | 68 | N/D | 161 | None | 0.1217 | None | gnomAD-4.0.0 | 1.59202E-06 | |
22627 | 68 | N/K | 161 | rs561184293 | 0.1217 | None | gnomAD-2.1.1 | 1.21E-05 | |
22627 | 68 | N/K | 161 | rs561184293 | 0.1217 | None | gnomAD-3.1.2 | 6.58E-06 | |
22627 | 68 | N/K | 161 | rs561184293 | 0.1217 | None | 1000 genomes | 1.99681E-04 | |
22627 | 68 | N/K | 161 | rs561184293 | 0.1217 | None | gnomAD-4.0.0 | 6.81767E-06 | |
22628 | 69 | V/A | 162 | None | 0.7595 | None | gnomAD-4.0.0 | 4.10603E-06 | |
22628 | 69 | V/I | 162 | rs775731759 | 0.7595 | None | gnomAD-2.1.1 | 7.15E-06 | |
22628 | 69 | V/I | 162 | rs775731759 | 0.7595 | None | gnomAD-3.1.2 | 3.29E-05 | |
22628 | 69 | V/I | 162 | rs775731759 | 0.7595 | None | gnomAD-4.0.0 | 7.6901E-06 | |
22632 | 73 | K/R | 166 | None | 0.3929 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22633 | 74 | E/K | 168 | None | 0.5307 | None | gnomAD-4.0.0 | 1.59204E-06 | |
22635 | 76 | T/N | 171 | None | 0.3449 | None | gnomAD-4.0.0 | 3.42178E-06 | |
22635 | 76 | T/S | 171 | rs1465804178 | 0.3449 | None | gnomAD-3.1.2 | 6.58E-06 | |
22635 | 76 | T/S | 171 | rs1465804178 | 0.3449 | None | gnomAD-4.0.0 | 6.57626E-06 | |
22636 | 77 | I/L | 172 | rs1239261963 | 0.1523 | None | gnomAD-2.1.1 | 3.19E-05 | |
22636 | 77 | I/L | 172 | rs1239261963 | 0.1523 | None | gnomAD-3.1.2 | 6.57E-06 | |
22636 | 77 | I/L | 172 | rs1239261963 | 0.1523 | None | gnomAD-4.0.0 | 6.57479E-06 | |
22637 | 78 | S/C | 173 | rs1233992072 | 0.2833 | None | gnomAD-2.1.1 | 4.03E-06 | |
22637 | 78 | S/C | 173 | rs1233992072 | 0.2833 | None | gnomAD-4.0.0 | 1.59214E-06 | |
22638 | 79 | I/K | 174 | rs2047107763 | 0.1063 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22638 | 79 | I/V | 174 | rs1300737822 | 0.1063 | None | gnomAD-3.1.2 | 6.58E-06 | |
22638 | 79 | I/V | 174 | rs1300737822 | 0.1063 | None | gnomAD-4.0.0 | 6.5754E-06 | |
22640 | 81 | V/A | 177 | rs1060500506 | 0.4740 | None | gnomAD-4.0.0 | 1.16343E-05 | |
22640 | 81 | V/F | 177 | rs750093105 | 0.4740 | None | gnomAD-4.0.0 | 1.36873E-06 | |
22640 | 81 | V/I | 177 | rs750093105 | 0.4740 | None | gnomAD-2.1.1 | 4.03E-06 | |
22640 | 81 | V/I | 177 | rs750093105 | 0.4740 | None | gnomAD-4.0.0 | 1.16342E-05 |