10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
V | P | D | A | P | G | I | P | E | P | S | N | I | T | G | N | S | I | T | L | T | W | A | R | P | E | S | D | G | G | S | E | I | Q | Q | Y | I | L | E | R | R | E | K | K | S | T | R | W | V | K | V | I | S | K | R | P | I | S | E | T | R | F | K | V | T | G | L | T | E | G | N | E | Y | E | F | H | V | M | A | E | N | A | A | G | V | G | P | A | S | G | I | S | R | L | I | K | C | R | E | P |
V | P | D | A | P | G | I | P | E | P | S | N | I | T | G | N | S | I | T | L | T | W | A | R | P | E | S | D | G | G | S | E | I | Q | Q | Y | I | L | E | R | R | E | K | K | S | T | R | W | V | K | V | I | S | K | R | P | I | S | E | T | R | F | K | V | T | G | L | T | E | G | N | E | Y | E | F | H | V | M | A | E | N | A | A | G | V | G | P | A | S | G | I | S | R | L | I | K | C | R | E | - |
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 |
---|---|---|---|---|---|---|---|---|---|
30719 | 1 | V/D | 1 | None | 0.4986 | None | gnomAD-4.0.0 | 1.62473E-06 | |
30721 | 3 | D/A | 3 | None | 0.4152 | None | gnomAD-4.0.0 | 4.80129E-06 | |
30722 | 4 | A/V | 4 | rs2154148189 | 0.2551 | None | gnomAD-4.0.0 | 6.88776E-07 | |
30723 | 5 | P/R | 5 | None | 0.1263 | None | gnomAD-4.0.0 | 6.88537E-07 | |
30723 | 5 | P/S | 5 | rs758537709 | 0.1263 | None | gnomAD-2.1.1 | 6.18E-05 | |
30723 | 5 | P/S | 5 | rs758537709 | 0.1263 | None | gnomAD-3.1.2 | 9.2E-05 | |
30723 | 5 | P/S | 5 | rs758537709 | 0.1263 |
TMD |
Literature | None | |
30723 | 5 | P/S | 5 | rs758537709 | 0.1263 | None | gnomAD-4.0.0 | 9.53693E-05 | |
30724 | 6 | G/D | 6 | None | 0.2095 | None | gnomAD-4.0.0 | 2.40064E-06 | |
30724 | 6 | G/R | 6 | rs370928582 | 0.2095 | None | gnomAD-2.1.1 | 1.82E-05 | |
30724 | 6 | G/R | 6 | rs370928582 | 0.2095 | None | gnomAD-3.1.2 | 1.18321E-04 | |
30724 | 6 | G/R | 6 | rs370928582 | 0.2095 | None | gnomAD-4.0.0 | 1.55823E-05 | |
30724 | 6 | G/S | 6 | rs370928582 | 0.2095 | None | gnomAD-2.1.1 | 4.1E-06 | |
30724 | 6 | G/S | 6 | rs370928582 | 0.2095 | None | gnomAD-4.0.0 | 1.17059E-05 | |
30725 | 7 | I/M | 7 | None | 0.5070 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30725 | 7 | I/V | 7 | rs1279357858 | 0.5070 | None | gnomAD-2.1.1 | 7.24E-06 | |
30725 | 7 | I/V | 7 | rs1279357858 | 0.5070 | None | gnomAD-3.1.2 | 1.31E-05 | |
30725 | 7 | I/V | 7 | rs1279357858 | 0.5070 | None | gnomAD-4.0.0 | 5.17689E-06 | |
30726 | 8 | P/A | 9 | rs72648247 | 0.1247 | None | gnomAD-2.1.1 | 2.44E-05 | |
30726 | 8 | P/A | 9 | rs72648247 | 0.1247 | None | gnomAD-3.1.2 | 6.57E-06 | |
30726 | 8 | P/A | 9 | rs72648247 | 0.1247 | None | gnomAD-4.0.0 | 1.05787E-05 | |
30726 | 8 | P/S | 9 | rs72648247 | 0.1247 | None | gnomAD-2.1.1 | 2.59095E-03 | |
30726 | 8 | P/S | 9 | rs72648247 | 0.1247 | None | gnomAD-3.1.2 | 1.98501E-03 | |
30726 | 8 | P/S | 9 | rs72648247 | 0.1247 | None | 1000 genomes | 1.99681E-03 | |
30726 | 8 | P/S | 9 | rs72648247 | 0.1247 | None | gnomAD-4.0.0 | 2.66501E-03 | |
30727 | 9 | E/A | 11 | None | 0.4024 | None | gnomAD-4.0.0 | 6.87049E-07 | |
30729 | 11 | S/R | 13 | rs778827102 | 0.2982 | None | gnomAD-2.1.1 | 4.05E-06 | |
30729 | 11 | S/R | 13 | rs778827102 | 0.2982 | None | gnomAD-4.0.0 | 3.19993E-06 | |
30731 | 13 | I/L | 15 | rs16866391 | 0.2994 | None | gnomAD-2.1.1 | 1.62E-05 | |
30731 | 13 | I/L | 15 | rs16866391 | 0.2994 | None | gnomAD-4.0.0 | 3.49651E-05 | |
30731 | 13 | I/V | 15 | rs16866391 | 0.2994 | None | gnomAD-2.1.1 | 3.52571E-02 | |
30731 | 13 | I/V | 15 | rs16866391 | 0.2994 | None | gnomAD-3.1.2 | 1.55402E-02 | |
30731 | 13 | I/V | 15 | rs16866391 | 0.2994 | None | 1000 genomes | 3.47444E-02 | |
30731 | 13 | I/V | 15 | rs16866391 | 0.2994 | None | gnomAD-4.0.0 | 1.09846E-02 | |
30733 | 15 | G/A | 17 | None | 0.1232 | None | gnomAD-4.0.0 | 1.59669E-06 | |
30733 | 15 | G/S | 17 | None | 0.1232 | None | gnomAD-4.0.0 | 1.59669E-06 | |
30735 | 17 | S/N | 19 | rs1225964281 | 0.1296 | None | gnomAD-4.0.0 | 1.36972E-06 | |
30736 | 18 | I/T | 20 | None | 0.0895 | None | gnomAD-4.0.0 | 2.40064E-06 | |
30737 | 19 | T/N | 21 | None | 0.1516 | None | gnomAD-4.0.0 | 3.60097E-06 | |
30738 | 20 | L/R | 22 | None | 0.0940 | None | gnomAD-4.0.0 | 4.8013E-06 | |
30739 | 21 | T/I | 23 | None | 0.3376 | None | gnomAD-4.0.0 | 1.59172E-06 | |
30740 | 22 | W/R | 24 | None | 0.1391 | None | gnomAD-4.0.0 | 1.59165E-06 | |
30741 | 23 | A/V | 25 | rs202090888 | 0.4345 | None | gnomAD-2.1.1 | 3.58E-05 | |
30741 | 23 | A/V | 25 | rs202090888 | 0.4345 | None | gnomAD-3.1.2 | 3.94E-05 | |
30741 | 23 | A/V | 25 | rs202090888 | 0.4345 | None | gnomAD-4.0.0 | 5.08192E-05 | |
30742 | 24 | R/K | 26 | rs1698436310 | 0.7329 | None | gnomAD-4.0.0 | 3.18285E-06 | |
30742 | 24 | R/W | 26 | rs1698437169 | 0.7329 | None | gnomAD-4.0.0 | 3.18296E-06 | |
30743 | 25 | P/R | 27 | rs771621337 | 0.1695 | None | gnomAD-2.1.1 | 4.03E-06 | |
30743 | 25 | P/R | 27 | rs771621337 | 0.1695 | None | gnomAD-4.0.0 | 3.18291E-06 | |
30747 | 29 | G/C | 31 | rs759160905 | 0.4121 | None | gnomAD-2.1.1 | 8.05E-06 | |
30747 | 29 | G/C | 31 | rs759160905 | 0.4121 | None | gnomAD-4.0.0 | 6.15793E-06 | |
30747 | 29 | G/S | 31 | rs759160905 | 0.4121 | None | gnomAD-2.1.1 | 4.03E-06 | |
30747 | 29 | G/S | 31 | rs759160905 | 0.4121 | None | gnomAD-4.0.0 | 6.84214E-07 | |
30750 | 32 | E/G | 34 | None | 0.8161 | None | gnomAD-4.0.0 | 6.84205E-07 | |
30750 | 32 | E/V | 34 | None | 0.8161 | None | gnomAD-4.0.0 | 6.84205E-07 | |
30751 | 33 | I/M | 35 | None | 0.2063 | None | gnomAD-4.0.0 | 1.59125E-06 | |
30752 | 34 | Q/E | 36 | rs1466048751 | 0.5111 | None | gnomAD-4.0.0 | 2.05263E-06 | |
30752 | 34 | Q/H | 36 | rs1485098760 | 0.5111 | None | gnomAD-2.1.1 | 4.02E-06 | |
30752 | 34 | Q/K | 36 | rs1466048751 | 0.5111 | None | gnomAD-4.0.0 | 6.84211E-07 | |
30754 | 36 | Y/C | 38 | None | 0.1363 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30754 | 36 | Y/D | 38 | rs369857502 | 0.1363 | None | gnomAD-4.0.0 | 2.05259E-06 | |
30754 | 36 | Y/H | 38 | rs369857502 | 0.1363 | None | gnomAD-2.1.1 | 4.02E-06 | |
30754 | 36 | Y/H | 38 | rs369857502 | 0.1363 | None | gnomAD-4.0.0 | 6.84198E-07 | |
30757 | 39 | E/Q | 41 | None | 0.1503 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30758 | 40 | R/K | 42 | None | 0.3021 | None | gnomAD-4.0.0 | 3.42095E-06 | |
30758 | 40 | R/S | 42 | None | 0.3021 | None | gnomAD-4.0.0 | 6.84182E-07 | |
30759 | 41 | R/K | 43 | rs769687279 | 0.1851 | None | gnomAD-2.1.1 | 4.02E-06 | |
30759 | 41 | R/K | 43 | rs769687279 | 0.1851 | None | gnomAD-4.0.0 | 1.59115E-06 | |
30760 | 42 | E/Q | 44 | rs936029222 | 0.3357 | None | gnomAD-2.1.1 | 4.02E-06 | |
30760 | 42 | E/Q | 44 | rs936029222 | 0.3357 | None | gnomAD-4.0.0 | 1.59116E-06 | |
30762 | 44 | K/Q | 54 | rs747890554 | 1.0272 | None | gnomAD-2.1.1 | 4.02E-06 | |
30762 | 44 | K/Q | 54 | rs747890554 | 1.0272 | None | gnomAD-4.0.0 | 2.73672E-06 | |
30762 | 44 | K/R | 54 | None | 1.0272 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30764 | 46 | T/K | 63 | rs376537509 | 1.0162 | None | gnomAD-2.1.1 | 1.61E-05 | |
30764 | 46 | T/K | 63 | rs376537509 | 1.0162 | None | gnomAD-3.1.2 | 1.31E-05 | |
30764 | 46 | T/K | 63 | rs376537509 | 1.0162 | None | gnomAD-4.0.0 | 1.92099E-05 | |
30764 | 46 | T/S | 63 | None | 1.0162 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30765 | 47 | R/G | 64 | None | 0.7417 | None | gnomAD-4.0.0 | 1.59105E-06 | |
30765 | 47 | R/K | 64 | rs373099440 | 0.7417 | None | gnomAD-2.1.1 | 4.01E-06 | |
30765 | 47 | R/K | 64 | rs373099440 | 0.7417 | None | gnomAD-4.0.0 | 1.36836E-06 | |
30765 | 47 | R/T | 64 | rs373099440 | 0.7417 | None | gnomAD-2.1.1 | 1.31908E-04 | |
30765 | 47 | R/T | 64 | rs373099440 | 0.7417 | None | gnomAD-3.1.2 | 5.71624E-04 | |
30765 | 47 | R/T | 64 | rs373099440 | 0.7417 | None | 1000 genomes | 1.99681E-04 | |
30765 | 47 | R/T | 64 | rs373099440 | 0.7417 | None | gnomAD-4.0.0 | 8.92235E-05 | |
30766 | 48 | W/R | 65 | rs780067852 | 0.2487 | None | gnomAD-2.1.1 | 4.42E-05 | |
30766 | 48 | W/R | 65 | rs780067852 | 0.2487 | None | gnomAD-4.0.0 | 2.94196E-05 | |
30767 | 49 | V/A | 66 | rs1698403843 | 0.3999 | None | gnomAD-4.0.0 | 4.77318E-06 | |
30768 | 50 | K/N | 67 | None | 0.4627 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30768 | 50 | K/T | 67 | None | 0.4627 | None | gnomAD-4.0.0 | 1.36834E-06 | |
30770 | 52 | I/T | 69 | None | 1.0545 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30771 | 53 | S/G | 70 | rs565582571 | 0.3388 | None | gnomAD-2.1.1 | 6.37E-05 | |
30771 | 53 | S/G | 70 | rs565582571 | 0.3388 | None | gnomAD-3.1.2 | 1.97E-05 | |
30771 | 53 | S/G | 70 | rs565582571 | 0.3388 | None | 1000 genomes | 1.99681E-04 | |
30771 | 53 | S/G | 70 | rs565582571 | 0.3388 | None | gnomAD-4.0.0 | 4.05911E-06 | |
30771 | 53 | S/R | 70 | None | 0.3388 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30773 | 55 | R/Q | 72 | rs776649477 | 0.8614 | None | gnomAD-2.1.1 | 8.03E-06 | |
30773 | 55 | R/Q | 72 | rs776649477 | 0.8614 | None | gnomAD-3.1.2 | 6.57E-06 | |
30773 | 55 | R/Q | 72 | rs776649477 | 0.8614 | None | gnomAD-4.0.0 | 6.19659E-06 | |
30774 | 56 | P/A | 75 | rs1158503839 | 0.6362 | None | gnomAD-2.1.1 | 4.01E-06 | |
30774 | 56 | P/R | 75 | rs1399114641 | 0.6362 | None | gnomAD-2.1.1 | 4.01E-06 | |
30774 | 56 | P/R | 75 | rs1399114641 | 0.6362 | None | gnomAD-4.0.0 | 1.59103E-06 | |
30774 | 56 | P/T | 75 | None | 0.6362 | None | gnomAD-4.0.0 | 6.8417E-07 | |
30775 | 57 | I/V | 77 | rs1410441906 | 0.1361 | None | gnomAD-2.1.1 | 4.01E-06 | |
30775 | 57 | I/V | 77 | rs1410441906 | 0.1361 | None | gnomAD-4.0.0 | 3.42082E-06 | |
30776 | 58 | S/A | 83 | None | 0.6176 | None | gnomAD-4.0.0 | 1.59101E-06 | |
30777 | 59 | E/A | 88 | None | 0.7333 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30777 | 59 | E/K | 88 | None | 0.7333 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30778 | 60 | T/R | 89 | rs201019681 | 0.2201 | None | gnomAD-2.1.1 | 8.55E-05 | |
30778 | 60 | T/R | 89 | rs201019681 | 0.2201 | None | gnomAD-3.1.2 | 1.18307E-04 | |
30778 | 60 | T/R | 89 | rs201019681 | 0.2201 | None | gnomAD-4.0.0 | 2.29277E-04 | |
30779 | 61 | R/T | 90 | rs1289817129 | 0.5498 | None | gnomAD-4.0.0 | 3.18207E-06 | |
30780 | 62 | F/L | 91 | rs1698389479 | 0.2419 | None | gnomAD-4.0.0 | 1.36834E-06 | |
30783 | 65 | T/P | 94 | None | 0.5758 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30784 | 66 | G/C | 96 | rs979303656 | 0.5366 | None | gnomAD-2.1.1 | 6.37E-05 | |
30784 | 66 | G/C | 96 | rs979303656 | 0.5366 | None | gnomAD-3.1.2 | 1.31E-05 | |
30784 | 66 | G/C | 96 | rs979303656 | 0.5366 | None | gnomAD-4.0.0 | 1.31427E-05 | |
30784 | 66 | G/R | 96 | rs979303656 | 0.5366 | None | gnomAD-2.1.1 | 1.07E-05 | |
30784 | 66 | G/R | 96 | rs979303656 | 0.5366 | None | gnomAD-3.1.2 | 3.29E-05 | |
30784 | 66 | G/R | 96 | rs979303656 | 0.5366 | None | gnomAD-4.0.0 | 4.33758E-06 | |
30786 | 68 | T/R | 98 | None | 0.4758 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30788 | 70 | G/D | 100 | rs754125601 | 0.3007 | None | gnomAD-2.1.1 | 2.81E-05 | |
30788 | 70 | G/D | 100 | rs754125601 | 0.3007 | None | gnomAD-3.1.2 | 3.94E-05 | |
30788 | 70 | G/D | 100 | rs754125601 | 0.3007 | None | gnomAD-4.0.0 | 2.17765E-05 | |
30788 | 70 | G/S | 100 | rs199891245 | 0.3007 | None | gnomAD-2.1.1 | 6.88013E-04 | |
30788 | 70 | G/S | 100 | rs199891245 | 0.3007 | None | gnomAD-3.1.2 | 4.99415E-04 | |
30788 | 70 | G/S | 100 | rs199891245 | 0.3007 | None | gnomAD-4.0.0 | 3.66837E-04 | |
30789 | 71 | N/S | 102 | rs767252340 | 0.3637 | None | gnomAD-2.1.1 | 8.03E-06 | |
30789 | 71 | N/S | 102 | rs767252340 | 0.3637 | None | gnomAD-4.0.0 | 2.73669E-06 | |
30789 | 71 | N/T | 102 | rs767252340 | 0.3637 | None | gnomAD-2.1.1 | 4.01E-06 | |
30789 | 71 | N/T | 102 | rs767252340 | 0.3637 | None | gnomAD-4.0.0 | 8.21008E-06 | |
30790 | 72 | E/K | 103 | rs371765494 | 0.2631 | None | gnomAD-2.1.1 | 8.03E-06 | |
30790 | 72 | E/K | 103 | rs371765494 | 0.2631 | None | gnomAD-3.1.2 | 6.57E-06 | |
30790 | 72 | E/K | 103 | rs371765494 | 0.2631 | None | gnomAD-4.0.0 | 4.33763E-06 | |
30791 | 73 | Y/C | 104 | None | 0.0982 | None | gnomAD-4.0.0 | 1.36837E-06 | |
30791 | 73 | Y/H | 104 | rs760556090 | 0.0982 | None | gnomAD-2.1.1 | 8.03E-06 | |
30791 | 73 | Y/H | 104 | rs760556090 | 0.0982 | None | gnomAD-3.1.2 | 6.57E-06 | |
30791 | 73 | Y/H | 104 | rs760556090 | 0.0982 | None | gnomAD-4.0.0 | 6.57255E-06 | |
30792 | 74 | E/G | 105 | None | 0.1768 | None | gnomAD-4.0.0 | 1.59113E-06 | |
30792 | 74 | E/K | 105 | rs759221234 | 0.1768 | None | gnomAD-2.1.1 | 4.02E-06 | |
30793 | 75 | F/L | 106 | None | 0.1085 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30794 | 76 | H/R | 107 | rs773998423 | 0.1546 | None | gnomAD-2.1.1 | 8.03E-06 | |
30794 | 76 | H/R | 107 | rs773998423 | 0.1546 | None | gnomAD-3.1.2 | 6.57E-06 | |
30794 | 76 | H/R | 107 | rs773998423 | 0.1546 | None | gnomAD-4.0.0 | 7.43576E-06 | |
30795 | 77 | V/A | 108 | rs1415270216 | 0.0690 | None | gnomAD-2.1.1 | 4.02E-06 | |
30795 | 77 | V/A | 108 | rs1415270216 | 0.0690 | None | gnomAD-4.0.0 | 1.36836E-06 | |
30795 | 77 | V/I | 108 | rs369025866 | 0.0690 | None | gnomAD-2.1.1 | 8.03E-06 | |
30795 | 77 | V/I | 108 | rs369025866 | 0.0690 | None | gnomAD-3.1.2 | 6.57E-06 | |
30795 | 77 | V/I | 108 | rs369025866 | 0.0690 | None | gnomAD-4.0.0 | 9.29489E-06 | |
30795 | 77 | V/L | 108 | rs369025866 | 0.0690 | None | gnomAD-3.1.2 | 6.57E-06 | |
30795 | 77 | V/L | 108 | rs369025866 | 0.0690 | None | gnomAD-4.0.0 | 1.23932E-06 | |
30796 | 78 | M/I | 109 | rs1698372447 | 0.1497 | None | gnomAD-4.0.0 | 4.77336E-06 | |
30796 | 78 | M/V | 109 | rs773266486 | 0.1497 | None | gnomAD-2.1.1 | 4.02E-06 | |
30797 | 79 | A/V | 110 | rs1428714908 | 0.1070 | None | gnomAD-2.1.1 | 4.02E-06 | |
30798 | 80 | E/Q | 111 | None | 0.2683 | None | gnomAD-4.0.0 | 1.59115E-06 | |
30801 | 83 | A/E | 114 | None | 0.5330 | None | gnomAD-4.0.0 | 6.84204E-07 | |
30801 | 83 | A/G | 114 | None | 0.5330 | None | gnomAD-4.0.0 | 1.36841E-06 | |
30801 | 83 | A/V | 114 | rs372570504 | 0.5330 | None | gnomAD-2.1.1 | 3.21E-05 | |
30801 | 83 | A/V | 114 | rs372570504 | 0.5330 | None | gnomAD-3.1.2 | 1.05143E-04 | |
30801 | 83 | A/V | 114 | rs372570504 | 0.5330 | None | gnomAD-4.0.0 | 2.5407E-05 | |
30802 | 84 | G/E | 115 | rs1698367521 | 0.1989 | None | gnomAD-3.1.2 | 6.57E-06 | |
30802 | 84 | G/E | 115 | rs1698367521 | 0.1989 | None | gnomAD-4.0.0 | 6.57237E-06 | |
30803 | 85 | V/A | 117 | None | 0.3904 | None | gnomAD-4.0.0 | 1.59123E-06 | |
30805 | 87 | P/S | 119 | rs1698365968 | 0.4778 | None | gnomAD-3.1.2 | 6.57E-06 | |
30805 | 87 | P/S | 119 | rs1698365968 | 0.4778 | None | gnomAD-4.0.0 | 6.57289E-06 | |
30807 | 89 | S/N | 121 | rs1698363944 | 0.1366 | None | gnomAD-3.1.2 | 6.57E-06 | |
30807 | 89 | S/N | 121 | rs1698363944 | 0.1366 | None | gnomAD-4.0.0 | 6.57056E-06 | |
30807 | 89 | S/R | 121 | rs748024667 | 0.1366 | None | gnomAD-2.1.1 | 4.02E-06 | |
30807 | 89 | S/T | 121 | None | 0.1366 | None | gnomAD-4.0.0 | 6.00162E-06 | |
30808 | 90 | G/D | 122 | rs1698362464 | 0.3036 | None | gnomAD-3.1.2 | 6.57E-06 | |
30808 | 90 | G/D | 122 | rs1698362464 | 0.3036 | None | gnomAD-4.0.0 | 6.57246E-06 | |
30809 | 91 | I/T | 123 | rs976337472 | 0.3600 | None | gnomAD-2.1.1 | 4.02E-06 | |
30809 | 91 | I/T | 123 | rs976337472 | 0.3600 | None | gnomAD-4.0.0 | 1.59121E-06 | |
30810 | 92 | S/L | 124 | rs1021262891 | 0.1446 | None | gnomAD-3.1.2 | 6.57E-06 | |
30810 | 92 | S/L | 124 | rs1021262891 | 0.1446 | None | gnomAD-4.0.0 | 6.08976E-06 | |
30812 | 94 | L/F | 126 | rs776239659 | 0.3869 | None | gnomAD-2.1.1 | 4.02E-06 | |
30812 | 94 | L/F | 126 | rs776239659 | 0.3869 | None | gnomAD-4.0.0 | 3.18262E-06 | |
30813 | 95 | I/T | 127 | rs768897840 | 0.1254 | None | gnomAD-2.1.1 | 2.41E-05 | |
30813 | 95 | I/T | 127 | rs768897840 | 0.1254 | None | gnomAD-3.1.2 | 6.57E-06 | |
30813 | 95 | I/T | 127 | rs768897840 | 0.1254 | None | gnomAD-4.0.0 | 2.91268E-05 | |
30814 | 96 | K/T | 129 | None | 0.4422 | None | gnomAD-4.0.0 | 3.18253E-06 | |
30815 | 97 | C/R | 130 | rs1485333840 | 0.0868 | None | gnomAD-3.1.2 | 6.57E-06 | |
30815 | 97 | C/R | 130 | rs1485333840 | 0.0868 | None | gnomAD-4.0.0 | 6.57402E-06 | |
30815 | 97 | C/Y | 130 | rs1185347998 | 0.0868 | None | gnomAD-2.1.1 | 4.02E-06 | |
30815 | 97 | C/Y | 130 | rs1185347998 | 0.0868 | None | gnomAD-4.0.0 | 2.73687E-06 | |
30817 | 99 | E/D | 132 | rs397517755 | 0.4329 | None | gnomAD-2.1.1 | 3.57E-05 | |
30817 | 99 | E/D | 132 | rs397517755 | 0.4329 | None | gnomAD-3.1.2 | 4.6E-05 | |
30817 | 99 | E/D | 132 | rs397517755 | 0.4329 | None | gnomAD-4.0.0 | 7.12671E-05 | |
30817 | 99 | E/K | 132 | rs529196025 | 0.4329 | None | gnomAD-2.1.1 | 4.02E-06 | |
30817 | 99 | E/K | 132 | rs529196025 | 0.4329 | None | gnomAD-4.0.0 | 6.84219E-07 | |
30817 | 99 | E/Q | 132 | rs529196025 | 0.4329 | None | gnomAD-2.1.1 | 3.21E-05 | |
30817 | 99 | E/Q | 132 | rs529196025 | 0.4329 | None | gnomAD-3.1.2 | 1.97E-05 | |
30817 | 99 | E/Q | 132 | rs529196025 | 0.4329 | None | 1000 genomes | 1.99681E-04 | |
30817 | 99 | E/Q | 132 | rs529196025 | 0.4329 | None | gnomAD-4.0.0 | 1.17737E-05 |