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D | V | A | L | R | T | S | V | I | A | K | A | G | E | D | V | Q | V | L | I | P | F | K | G | R | P | P | P | T | V | T | W | R | K | D | E | K | N | L | G | S | D | A | R | Y | S | I | E | N | T | D | S | S | S | L | L | T | I | P | Q | V | T | R | N | D | T | G | K | Y | I | L | T | I | E | N | G | V | G | E | P | K | S | S | T | V | S | V | K | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
29843 | 2 | V/A | 2 | None | 0.7488 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29843 | 2 | V/E | 2 | None | 0.7488 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29843 | 2 | V/M | 2 | rs376014865 | 0.7488 | None | gnomAD-4.0.0 | 1.38498E-06 | |
29845 | 4 | L/V | 4 | None | 0.3596 | None | gnomAD-4.0.0 | 1.63021E-06 | |
29847 | 6 | T/I | 9 | rs760372724 | 0.4606 | None | gnomAD-2.1.1 | 8.3E-06 | |
29847 | 6 | T/I | 9 | rs760372724 | 0.4606 | None | gnomAD-4.0.0 | 1.38176E-06 | |
29847 | 6 | T/N | 9 | None | 0.4606 | None | gnomAD-4.0.0 | 6.90878E-07 | |
29848 | 7 | S/T | 11 | None | 0.3713 | None | gnomAD-4.0.0 | 2.40065E-06 | |
29849 | 8 | V/F | 13 | rs727504493 | 0.2924 | None | gnomAD-4.0.0 | 4.14362E-06 | |
29849 | 8 | V/L | 13 | None | 0.2924 | None | gnomAD-4.0.0 | 6.90603E-07 | |
29851 | 10 | A/D | 16 | rs774885355 | 0.1708 | None | gnomAD-2.1.1 | 8.27E-06 | |
29851 | 10 | A/D | 16 | rs774885355 | 0.1708 | None | gnomAD-3.1.2 | 6.57E-06 | |
29851 | 10 | A/D | 16 | rs774885355 | 0.1708 | None | gnomAD-4.0.0 | 8.74292E-06 | |
29851 | 10 | A/V | 16 | rs774885355 | 0.1708 | None | gnomAD-4.0.0 | 5.52057E-06 | |
29852 | 11 | K/R | 18 | rs771570602 | 0.4929 | None | gnomAD-2.1.1 | 4.13E-06 | |
29852 | 11 | K/R | 18 | rs771570602 | 0.4929 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29853 | 12 | A/T | 23 | rs1337052263 | 0.3877 | None | gnomAD-3.1.2 | 6.57E-06 | |
29853 | 12 | A/T | 23 | rs1337052263 | 0.3877 | None | gnomAD-4.0.0 | 6.57142E-06 | |
29854 | 13 | G/D | 24 | rs1307295832 | 0.3099 | None | gnomAD-2.1.1 | 4.13E-06 | |
29854 | 13 | G/D | 24 | rs1307295832 | 0.3099 | None | gnomAD-3.1.2 | 6.57E-06 | |
29854 | 13 | G/D | 24 | rs1307295832 | 0.3099 | None | gnomAD-4.0.0 | 6.2402E-06 | |
29856 | 15 | D/E | 26 | None | 0.5033 | None | gnomAD-4.0.0 | 6.88879E-07 | |
29856 | 15 | D/Y | 26 | rs1244755099 | 0.5033 | None | gnomAD-2.1.1 | 4.13E-06 | |
29856 | 15 | D/Y | 26 | rs1244755099 | 0.5033 | None | gnomAD-4.0.0 | 1.61856E-06 | |
29858 | 17 | Q/E | 29 | None | 0.6709 | None | gnomAD-4.0.0 | 1.37714E-06 | |
29858 | 17 | Q/K | 29 | rs1316523481 | 0.6709 | None | gnomAD-2.1.1 | 4.12E-06 | |
29858 | 17 | Q/K | 29 | rs1316523481 | 0.6709 | None | gnomAD-3.1.2 | 6.57E-06 | |
29858 | 17 | Q/K | 29 | rs1316523481 | 0.6709 | None | gnomAD-4.0.0 | 9.97241E-06 | |
29859 | 18 | V/L | 30 | rs774284668 | 0.1814 | None | gnomAD-2.1.1 | 1.82E-05 | |
29859 | 18 | V/L | 30 | rs774284668 | 0.1814 | None | gnomAD-3.1.2 | 1.97E-05 | |
29859 | 18 | V/L | 30 | rs774284668 | 0.1814 | None | gnomAD-4.0.0 | 5.60907E-06 | |
29859 | 18 | V/M | 30 | None | 0.1814 | None | gnomAD-4.0.0 | 1.37707E-06 | |
29861 | 20 | I/F | 33 | rs1384879576 | 0.1935 | None | gnomAD-2.1.1 | 4.12E-06 | |
29861 | 20 | I/F | 33 | rs1384879576 | 0.1935 | None | gnomAD-4.0.0 | 1.37576E-06 | |
29863 | 22 | F/S | 35 | None | 0.1620 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29864 | 23 | K/E | 38 | rs770839822 | 0.9931 | None | gnomAD-2.1.1 | 8.21E-06 | |
29864 | 23 | K/E | 38 | rs770839822 | 0.9931 | None | gnomAD-4.0.0 | 1.76963E-05 | |
29865 | 24 | G/R | 40 | None | 0.3538 | None | gnomAD-4.0.0 | 1.37457E-06 | |
29865 | 24 | G/S | 40 | None | 0.3538 | None | gnomAD-4.0.0 | 1.37457E-06 | |
29866 | 25 | R/G | 41 | rs1346127107 | 0.9445 | None | gnomAD-2.1.1 | 4.09E-06 | |
29866 | 25 | R/G | 41 | rs1346127107 | 0.9445 | None | gnomAD-4.0.0 | 1.60673E-06 | |
29866 | 25 | R/K | 41 | None | 0.9445 | None | gnomAD-4.0.0 | 1.60661E-06 | |
29867 | 26 | P/L | 42 | rs1163231523 | 0.4300 | None | gnomAD-2.1.1 | 4.09E-06 | |
29867 | 26 | P/L | 42 | rs1163231523 | 0.4300 | None | gnomAD-4.0.0 | 1.60561E-06 | |
29867 | 26 | P/R | 42 | rs1163231523 | 0.4300 | None | gnomAD-2.1.1 | 3.18E-05 | |
29867 | 26 | P/R | 42 | rs1163231523 | 0.4300 | None | gnomAD-3.1.2 | 6.57E-06 | |
29867 | 26 | P/R | 42 | rs1163231523 | 0.4300 | None | gnomAD-4.0.0 | 6.5697E-06 | |
29869 | 28 | P/R | 44 | rs770203238 | 0.1704 | None | gnomAD-3.1.2 | 6.57E-06 | |
29869 | 28 | P/R | 44 | rs770203238 | 0.1704 | None | gnomAD-4.0.0 | 6.56953E-06 | |
29870 | 29 | T/A | 45 | rs372796632 | 0.5199 | None | gnomAD-2.1.1 | 4.08E-06 | |
29870 | 29 | T/A | 45 | rs372796632 | 0.5199 | None | gnomAD-4.0.0 | 6.86391E-07 | |
29870 | 29 | T/P | 45 | None | 0.5199 | None | gnomAD-4.0.0 | 6.86391E-07 | |
29871 | 30 | V/A | 46 | None | 0.2534 | None | gnomAD-4.0.0 | 2.40066E-06 | |
29872 | 31 | T/K | 47 | None | 0.4236 | None | gnomAD-4.0.0 | 6.8614E-07 | |
29873 | 32 | W/G | 48 | None | 0.1404 | None | gnomAD-4.0.0 | 2.05765E-06 | |
29873 | 32 | W/R | 48 | None | 0.1404 | None | gnomAD-4.0.0 | 1.37177E-06 | |
29875 | 34 | K/E | 50 | None | 0.1517 | None | gnomAD-4.0.0 | 2.40065E-06 | |
29875 | 34 | K/Q | 50 | rs1700097598 | 0.1517 | None | gnomAD-3.1.2 | 6.57E-06 | |
29875 | 34 | K/Q | 50 | rs1700097598 | 0.1517 | None | gnomAD-4.0.0 | 6.56866E-06 | |
29876 | 35 | D/E | 51 | rs397517743 | 0.7082 | None | gnomAD-2.1.1 | 1.44E-05 | |
29876 | 35 | D/E | 51 | rs397517743 | 0.7082 | None | gnomAD-3.1.2 | 6.57E-06 | |
29876 | 35 | D/E | 51 | rs397517743 | 0.7082 | None | gnomAD-4.0.0 | 1.67543E-05 | |
29877 | 36 | E/D | 52 | rs767080000 | 0.8076 | None | gnomAD-2.1.1 | 3.19E-05 | |
29877 | 36 | E/D | 52 | rs767080000 | 0.8076 | None | gnomAD-3.1.2 | 6.57E-06 | |
29877 | 36 | E/D | 52 | rs767080000 | 0.8076 | None | gnomAD-4.0.0 | 6.57091E-06 | |
29878 | 37 | K/E | 55 | None | 0.4772 | None | gnomAD-4.0.0 | 3.60097E-06 | |
29878 | 37 | K/N | 55 | rs748356210 | 0.4772 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29879 | 38 | N/K | 56 | rs756747766 | 0.4666 | None | gnomAD-4.0.0 | 6.86599E-07 | |
29879 | 38 | N/T | 56 | None | 0.4666 | None | gnomAD-4.0.0 | 1.59533E-06 | |
29880 | 39 | L/F | 58 | None | 0.0928 | None | gnomAD-4.0.0 | 6.84934E-07 | |
29880 | 39 | L/R | 58 | rs781165041 | 0.0928 | None | gnomAD-2.1.1 | 4.04E-06 | |
29880 | 39 | L/R | 58 | rs781165041 | 0.0928 | None | gnomAD-3.1.2 | 6.57E-06 | |
29880 | 39 | L/R | 58 | rs781165041 | 0.0928 | None | gnomAD-4.0.0 | 1.17841E-05 | |
29881 | 40 | G/S | 69 | None | 0.5269 | None | gnomAD-4.0.0 | 1.59486E-06 | |
29882 | 41 | S/N | 70 | rs755022770 | 0.6444 | None | gnomAD-2.1.1 | 2.42E-05 | |
29882 | 41 | S/N | 70 | rs755022770 | 0.6444 | None | gnomAD-3.1.2 | 1.31E-05 | |
29882 | 41 | S/N | 70 | rs755022770 | 0.6444 | None | gnomAD-4.0.0 | 2.10834E-05 | |
29882 | 41 | S/R | 70 | None | 0.6444 | None | gnomAD-4.0.0 | 2.40068E-06 | |
29884 | 43 | A/D | 102 | None | 0.7914 | None | gnomAD-4.0.0 | 1.36918E-06 | |
29884 | 43 | A/G | 102 | None | 0.7914 | None | gnomAD-4.0.0 | 6.84592E-07 | |
29884 | 43 | A/T | 102 | None | 0.7914 | None | gnomAD-4.0.0 | 1.59346E-06 | |
29884 | 43 | A/V | 102 | rs1486750909 | 0.7914 | None | gnomAD-4.0.0 | 6.84592E-07 | |
29885 | 44 | R/G | 115 | rs368173790 | 0.2732 | None | gnomAD-2.1.1 | 4.03E-06 | |
29885 | 44 | R/G | 115 | rs368173790 | 0.2732 | None | gnomAD-4.0.0 | 1.59301E-06 | |
29887 | 46 | S/G | 122 | None | 0.4919 | None | gnomAD-4.0.0 | 1.59251E-06 | |
29888 | 47 | I/M | 123 | rs1221359363 | 0.2756 | None | gnomAD-2.1.1 | 4.02E-06 | |
29888 | 47 | I/M | 123 | rs1221359363 | 0.2756 | None | gnomAD-3.1.2 | 6.57E-06 | |
29888 | 47 | I/M | 123 | rs1221359363 | 0.2756 | None | gnomAD-4.0.0 | 4.33868E-06 | |
29888 | 47 | I/T | 123 | rs1700084788 | 0.2756 | None | gnomAD-3.1.2 | 6.57E-06 | |
29888 | 47 | I/T | 123 | rs1700084788 | 0.2756 | None | gnomAD-4.0.0 | 4.33865E-06 | |
29888 | 47 | I/V | 123 | rs1301171033 | 0.2756 | None | gnomAD-3.1.2 | 6.57E-06 | |
29888 | 47 | I/V | 123 | rs1301171033 | 0.2756 | None | gnomAD-4.0.0 | 2.56337E-06 | |
29889 | 48 | E/D | 125 | rs1293413587 | 0.6421 | None | gnomAD-2.1.1 | 1.61E-05 | |
29889 | 48 | E/D | 125 | rs1293413587 | 0.6421 | None | gnomAD-4.0.0 | 5.47479E-06 | |
29889 | 48 | E/K | 125 | rs1356821044 | 0.6421 | None | gnomAD-2.1.1 | 4.02E-06 | |
29889 | 48 | E/K | 125 | rs1356821044 | 0.6421 | None | gnomAD-4.0.0 | 2.0531E-06 | |
29890 | 49 | N/D | 127 | None | 0.5176 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29891 | 50 | T/I | 130 | rs758970991 | 0.4278 | None | gnomAD-2.1.1 | 8.04E-06 | |
29891 | 50 | T/I | 130 | rs758970991 | 0.4278 | None | gnomAD-4.0.0 | 1.36863E-06 | |
29891 | 50 | T/N | 130 | None | 0.4278 | None | gnomAD-4.0.0 | 6.84313E-07 | |
29891 | 50 | T/S | 130 | rs758970991 | 0.4278 | None | gnomAD-4.0.0 | 1.36863E-06 | |
29893 | 52 | S/A | 134 | rs1382237741 | 0.3693 | None | gnomAD-3.1.2 | 6.57E-06 | |
29893 | 52 | S/A | 134 | rs1382237741 | 0.3693 | None | gnomAD-4.0.0 | 3.09866E-06 | |
29894 | 53 | S/A | 135 | None | 0.1602 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29897 | 56 | L/F | 138 | rs180798672 | 0.0831 | None | gnomAD-2.1.1 | 2.01E-05 | |
29897 | 56 | L/F | 138 | rs180798672 | 0.0831 | None | gnomAD-3.1.2 | 1.97E-05 | |
29897 | 56 | L/F | 138 | rs180798672 | 0.0831 | None | 1000 genomes | 1.99681E-04 | |
29897 | 56 | L/F | 138 | rs180798672 | 0.0831 | None | gnomAD-4.0.0 | 1.11535E-05 | |
29900 | 59 | P/L | 141 | rs1302918553 | 0.3287 | None | gnomAD-2.1.1 | 1.21E-05 | |
29900 | 59 | P/L | 141 | rs1302918553 | 0.3287 | None | gnomAD-4.0.0 | 8.21064E-06 | |
29900 | 59 | P/R | 141 | None | 0.3287 | None | gnomAD-4.0.0 | 6.8422E-07 | |
29903 | 62 | T/I | 145 | rs72648240 | 0.3539 | None | gnomAD-2.1.1 | 8.04E-06 | |
29903 | 62 | T/I | 145 | rs72648240 | 0.3539 | None | gnomAD-3.1.2 | 1.31E-05 | |
29903 | 62 | T/I | 145 | rs72648240 | 0.3539 | None | gnomAD-4.0.0 | 6.81657E-06 | |
29903 | 62 | T/S | 145 | rs72648240 | 0.3539 | None | gnomAD-2.1.1 | 3.06959E-04 | |
29903 | 62 | T/S | 145 | rs72648240 | 0.3539 | None | gnomAD-3.1.2 | 2.43117E-04 | |
29903 | 62 | T/S | 145 | rs72648240 | 0.3539 | None | gnomAD-4.0.0 | 2.9931E-04 | |
29904 | 63 | R/C | 146 | rs1222259013 | 0.5640 | None | gnomAD-3.1.2 | 6.57E-06 | |
29904 | 63 | R/C | 146 | rs1222259013 | 0.5640 | None | gnomAD-4.0.0 | 3.71825E-06 | |
29904 | 63 | R/H | 146 | None | 0.5640 | None | gnomAD-2.1.1 | 6.78E-05 | |
29904 | 63 | R/H | 146 | None | 0.5640 | None | gnomAD-3.1.2 | 3.94E-05 | |
29904 | 63 | R/H | 146 | None | 0.5640 | None | gnomAD-4.0.0 | 2.10697E-05 | |
29904 | 63 | R/L | 146 | rs397517744 | 0.5640 | None | gnomAD-2.1.1 | 4.02E-06 | |
29904 | 63 | R/L | 146 | rs397517744 | 0.5640 | None | gnomAD-4.0.0 | 1.36843E-06 | |
29905 | 64 | N/S | 148 | rs773727575 | 0.7963 | None | gnomAD-2.1.1 | 4.02E-06 | |
29905 | 64 | N/S | 148 | rs773727575 | 0.7963 | None | gnomAD-3.1.2 | 6.57E-06 | |
29905 | 64 | N/S | 148 | rs773727575 | 0.7963 | None | gnomAD-4.0.0 | 5.12376E-06 | |
29906 | 65 | D/N | 149 | rs770892973 | 0.1560 | None | gnomAD-2.1.1 | 4.02E-06 | |
29906 | 65 | D/N | 149 | rs770892973 | 0.1560 | None | gnomAD-4.0.0 | 4.78952E-06 | |
29907 | 66 | T/I | 151 | rs762852359 | 0.3443 | None | gnomAD-2.1.1 | 1.21E-05 | |
29907 | 66 | T/I | 151 | rs762852359 | 0.3443 | None | gnomAD-4.0.0 | 7.95626E-06 | |
29908 | 67 | G/R | 152 | rs765712246 | 0.2185 | None | gnomAD-4.0.0 | 6.84228E-07 | |
29909 | 68 | K/E | 153 | rs769543331 | 0.6779 | None | gnomAD-2.1.1 | 8.04E-06 | |
29909 | 68 | K/E | 153 | rs769543331 | 0.6779 | None | gnomAD-4.0.0 | 1.11393E-05 | |
29911 | 70 | I/S | 155 | rs1261129308 | 0.3300 | None | gnomAD-3.1.2 | 6.57E-06 | |
29911 | 70 | I/S | 155 | rs1261129308 | 0.3300 | None | gnomAD-4.0.0 | 6.56901E-06 | |
29912 | 71 | L/F | 156 | None | 0.1050 | None | gnomAD-4.0.0 | 1.59168E-06 | |
29912 | 71 | L/P | 156 | rs748326514 | 0.1050 | None | gnomAD-2.1.1 | 2.41E-05 | |
29912 | 71 | L/P | 156 | rs748326514 | 0.1050 | None | gnomAD-4.0.0 | 9.58034E-06 | |
29913 | 72 | T/I | 157 | rs1222720970 | 0.2304 | None | gnomAD-2.1.1 | 1.21E-05 | |
29913 | 72 | T/I | 157 | rs1222720970 | 0.2304 | None | gnomAD-3.1.2 | 6.57E-06 | |
29913 | 72 | T/I | 157 | rs1222720970 | 0.2304 | None | gnomAD-4.0.0 | 8.67716E-06 | |
29913 | 72 | T/R | 157 | None | 0.2304 | None | gnomAD-4.0.0 | 1.36872E-06 | |
29914 | 73 | I/K | 158 | None | 0.1564 | None | gnomAD-4.0.0 | 6.84375E-07 | |
29914 | 73 | I/M | 158 | rs1230340692 | 0.1564 | None | gnomAD-2.1.1 | 4.02E-06 | |
29914 | 73 | I/M | 158 | rs1230340692 | 0.1564 | None | gnomAD-4.0.0 | 3.42198E-06 | |
29914 | 73 | I/T | 158 | rs952680348 | 0.1564 | None | gnomAD-2.1.1 | 4.02E-06 | |
29914 | 73 | I/T | 158 | rs952680348 | 0.1564 | None | gnomAD-3.1.2 | 6.57E-06 | |
29914 | 73 | I/T | 158 | rs952680348 | 0.1564 | None | gnomAD-4.0.0 | 3.0991E-06 | |
29914 | 73 | I/V | 158 | None | 0.1564 | None | gnomAD-4.0.0 | 1.59212E-06 | |
29916 | 75 | N/D | 161 | rs1308602245 | 0.2358 | None | gnomAD-2.1.1 | 4.02E-06 | |
29916 | 75 | N/D | 161 | rs1308602245 | 0.2358 | None | gnomAD-4.0.0 | 6.84467E-07 | |
29916 | 75 | N/Y | 161 | rs1308602245 | 0.2358 | None | gnomAD-2.1.1 | 8.05E-06 | |
29916 | 75 | N/Y | 161 | rs1308602245 | 0.2358 | None | gnomAD-4.0.0 | 4.79127E-06 | |
29918 | 77 | V/A | 163 | rs768749427 | 0.6570 | None | gnomAD-2.1.1 | 3.22E-05 | |
29918 | 77 | V/A | 163 | rs768749427 | 0.6570 | None | gnomAD-4.0.0 | 1.91213E-05 | |
29919 | 78 | G/D | 164 | rs759930753 | 0.5607 | None | gnomAD-4.0.0 | 4.10828E-06 | |
29920 | 79 | E/D | 165 | rs747181293 | 0.7572 | None | gnomAD-2.1.1 | 8.06E-05 | |
29920 | 79 | E/D | 165 | rs747181293 | 0.7572 | None | gnomAD-3.1.2 | 5.26E-05 | |
29920 | 79 | E/D | 165 | rs747181293 | 0.7572 | None | gnomAD-4.0.0 | 4.09236E-05 | |
29920 | 79 | E/G | 165 | None | 0.7572 | None | gnomAD-4.0.0 | 1.59379E-06 | |
29922 | 81 | K/E | 167 | rs972775598 | 0.6555 | None | gnomAD-3.1.2 | 6.57E-06 | |
29922 | 81 | K/E | 167 | rs972775598 | 0.6555 | None | gnomAD-4.0.0 | 2.02979E-06 | |
29922 | 81 | K/N | 167 | rs397517745 | 0.6555 | None | gnomAD-4.0.0 | 6.84852E-07 | |
29924 | 83 | S/L | 169 | rs1391021761 | 0.4502 | None | gnomAD-2.1.1 | 4.03E-06 | |
29924 | 83 | S/L | 169 | rs1391021761 | 0.4502 | None | gnomAD-3.1.2 | 6.57E-06 | |
29924 | 83 | S/L | 169 | rs1391021761 | 0.4502 | None | gnomAD-4.0.0 | 2.56692E-06 | |
29925 | 84 | T/S | 171 | rs780250655 | 0.3598 | None | gnomAD-2.1.1 | 4.03E-06 | |
29925 | 84 | T/S | 171 | rs780250655 | 0.3598 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29926 | 85 | V/M | 172 | rs1553541468 | 0.2024 | None | gnomAD-4.0.0 | 1.59624E-06 | |
29927 | 86 | S/N | 173 | rs1462504715 | 0.3121 | None | gnomAD-2.1.1 | 4.03E-06 | |
29927 | 86 | S/N | 173 | rs1462504715 | 0.3121 | None | gnomAD-4.0.0 | 3.42566E-06 | |
29928 | 87 | V/I | 174 | rs746336106 | 0.1355 | None | gnomAD-2.1.1 | 4.04E-06 | |
29930 | 89 | V/L | 177 | None | 1.4339 | None | gnomAD-4.0.0 | 2.05531E-06 | |
29930 | 89 | V/M | 177 | rs546141047 | 1.4339 | None | gnomAD-2.1.1 | 4.03E-06 | |
29930 | 89 | V/M | 177 | rs546141047 | 1.4339 | None | gnomAD-3.1.2 | 1.31E-05 | |
29930 | 89 | V/M | 177 | rs546141047 | 1.4339 | None | 1000 genomes | 1.99681E-04 | |
29930 | 89 | V/M | 177 | rs546141047 | 1.4339 | None | gnomAD-4.0.0 | 1.31328E-05 |