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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
10079 | 2 | Q/R | 2 | rs752672136 | 0.5647 | None | gnomAD-2.1.1 | 4.02E-06 | |
10079 | 2 | Q/R | 2 | rs752672136 | 0.5647 | None | gnomAD-4.0.0 | 1.59282E-06 | |
10081 | 4 | T/R | 4 | rs1306890743 | 0.3950 | None | gnomAD-3.1.2 | 6.57E-06 | |
10081 | 4 | T/R | 4 | rs1306890743 | 0.3950 | None | gnomAD-4.0.0 | 2.02986E-06 | |
10082 | 5 | K/T | 5 | rs2075208868 | 0.3312 | None | gnomAD-3.1.2 | 6.57E-06 | |
10082 | 5 | K/T | 5 | rs2075208868 | 0.3312 | None | gnomAD-4.0.0 | 6.57004E-06 | |
10083 | 6 | R/C | 7 | rs377714947 | 0.4608 | None | gnomAD-2.1.1 | 2.86E-05 | |
10083 | 6 | R/C | 7 | rs377714947 | 0.4608 | None | gnomAD-3.1.2 | 2.63E-05 | |
10083 | 6 | R/C | 7 | rs377714947 | 0.4608 | None | 1000 genomes | 1.99681E-04 | |
10083 | 6 | R/C | 7 | rs377714947 | 0.4608 | None | gnomAD-4.0.0 | 1.36336E-05 | |
10083 | 6 | R/H | 7 | rs759347532 | 0.4608 | None | gnomAD-2.1.1 | 7.14E-06 | |
10083 | 6 | R/H | 7 | rs759347532 | 0.4608 | None | gnomAD-3.1.2 | 1.97E-05 | |
10083 | 6 | R/H | 7 | rs759347532 | 0.4608 | None | gnomAD-4.0.0 | 2.41697E-05 | |
10083 | 6 | R/L | 7 | rs759347532 | 0.4608 | None | gnomAD-2.1.1 | 4.02E-06 | |
10083 | 6 | R/L | 7 | rs759347532 | 0.4608 | None | gnomAD-4.0.0 | 1.36852E-06 | |
10084 | 7 | I/M | 8 | None | 0.1080 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10084 | 7 | I/V | 8 | None | 0.1080 | None | gnomAD-4.0.0 | 3.42109E-06 | |
10085 | 8 | Q/E | 9 | rs1057519237 | 0.7801 | None | gnomAD-2.1.1 | 4.02E-06 | |
10085 | 8 | Q/E | 9 | rs1057519237 | 0.7801 | None | gnomAD-4.0.0 | 1.59124E-06 | |
10085 | 8 | Q/H | 9 | rs1207728802 | 0.7801 | None | gnomAD-2.1.1 | 3.19E-05 | |
10085 | 8 | Q/H | 9 | rs1207728802 | 0.7801 | None | gnomAD-3.1.2 | 6.57E-06 | |
10085 | 8 | Q/H | 9 | rs1207728802 | 0.7801 | None | gnomAD-4.0.0 | 2.47864E-06 | |
10086 | 9 | N/D | 11 | rs1188623443 | 0.3831 | None | gnomAD-2.1.1 | 4.01E-06 | |
10086 | 9 | N/D | 11 | rs1188623443 | 0.3831 | None | gnomAD-4.0.0 | 1.59091E-06 | |
10086 | 9 | N/K | 11 | rs2075205547 | 0.3831 | None | gnomAD-4.0.0 | 1.59088E-06 | |
10088 | 11 | V/A | 14 | None | 0.5060 | None | gnomAD-4.0.0 | 6.84142E-06 | |
10088 | 11 | V/M | 14 | rs771073631 | 0.5060 | None | gnomAD-2.1.1 | 8.03E-06 | |
10088 | 11 | V/M | 14 | rs771073631 | 0.5060 | None | gnomAD-3.1.2 | 6.57E-06 | |
10088 | 11 | V/M | 14 | rs771073631 | 0.5060 | None | gnomAD-4.0.0 | 1.11538E-05 | |
10090 | 13 | S/N | 18 | rs2075204317 | 0.3345 | None | gnomAD-3.1.2 | 6.57E-06 | |
10090 | 13 | S/N | 18 | rs2075204317 | 0.3345 | None | gnomAD-4.0.0 | 7.68494E-06 | |
10091 | 14 | E/D | 23 | rs2075203632 | 0.4094 | None | gnomAD-3.1.2 | 6.57E-06 | |
10091 | 14 | E/D | 23 | rs2075203632 | 0.4094 | None | gnomAD-4.0.0 | 3.84252E-06 | |
10091 | 14 | E/G | 23 | None | 0.4094 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10091 | 14 | E/K | 23 | rs2075203983 | 0.4094 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10092 | 15 | H/L | 24 | None | 0.5535 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10092 | 15 | H/R | 24 | rs1311702740 | 0.5535 | None | gnomAD-4.0.0 | 3.18172E-06 | |
10092 | 15 | H/Y | 24 | rs72650011 | 0.5535 | None | gnomAD-2.1.1 | 4.04131E-03 | |
10092 | 15 | H/Y | 24 | rs72650011 | 0.5535 | None | gnomAD-3.1.2 | 3.6088E-03 | |
10092 | 15 | H/Y | 24 | rs72650011 | 0.5535 | None | 1000 genomes | 1.19808E-03 | |
10092 | 15 | H/Y | 24 | rs72650011 | 0.5535 |
ARVC |
Literature | None | |
10092 | 15 | H/Y | 24 | rs72650011 | 0.5535 | None | gnomAD-4.0.0 | 3.48525E-03 | |
10094 | 17 | S/P | 26 | rs773164933 | 0.3664 | None | gnomAD-2.1.1 | 1.2E-05 | |
10094 | 17 | S/P | 26 | rs773164933 | 0.3664 | None | gnomAD-4.0.0 | 6.36345E-06 | |
10095 | 18 | A/T | 28 | rs201635835 | 0.1429 | None | gnomAD-2.1.1 | 6.06E-05 | |
10095 | 18 | A/T | 28 | rs201635835 | 0.1429 | None | gnomAD-3.1.2 | 4.6E-05 | |
10095 | 18 | A/T | 28 | rs201635835 | 0.1429 | None | gnomAD-4.0.0 | 8.73615E-05 | |
10097 | 20 | F/S | 30 | None | 0.1040 | None | gnomAD-4.0.0 | 3.60097E-06 | |
10099 | 22 | C/R | 33 | rs2075201214 | 0.0811 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10099 | 22 | C/S | 33 | None | 0.0811 | None | gnomAD-4.0.0 | 2.40064E-06 | |
10100 | 23 | E/K | 34 | rs748645732 | 0.2283 | None | gnomAD-2.1.1 | 4.01E-06 | |
10100 | 23 | E/K | 34 | rs748645732 | 0.2283 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10101 | 24 | V/L | 35 | None | 0.1044 | None | gnomAD-4.0.0 | 6.84133E-07 | |
10101 | 24 | V/M | 35 | None | 0.1044 | None | gnomAD-4.0.0 | 6.84133E-07 | |
10103 | 26 | F/L | 40 | None | 0.2063 | None | gnomAD-4.0.0 | 6.84132E-07 | |
10106 | 29 | A/S | 44 | None | 0.1621 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10107 | 30 | I/T | 45 | None | 0.7710 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10109 | 32 | T/A | 47 | rs2075197256 | 0.2137 | None | gnomAD-4.0.0 | 1.20033E-06 | |
10114 | 37 | P/A | 52 | None | 0.8136 | None | gnomAD-4.0.0 | 1.36827E-06 | |
10114 | 37 | P/S | 52 | None | 0.8136 | None | gnomAD-4.0.0 | 4.1048E-06 | |
10115 | 38 | T/A | 55 | rs769099418 | 0.5330 | None | gnomAD-2.1.1 | 1.78E-05 | |
10115 | 38 | T/A | 55 | rs769099418 | 0.5330 | None | gnomAD-3.1.2 | 1.97E-05 | |
10115 | 38 | T/A | 55 | rs769099418 | 0.5330 | None | gnomAD-4.0.0 | 1.42514E-05 | |
10115 | 38 | T/K | 55 | rs747337002 | 0.5330 | None | gnomAD-2.1.1 | 4.01E-06 | |
10118 | 41 | T/K | 59 | None | 0.7200 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10119 | 42 | E/Q | 70 | rs778565859 | 0.3602 | None | gnomAD-2.1.1 | 9.23E-05 | |
10119 | 42 | E/Q | 70 | rs778565859 | 0.3602 | None | gnomAD-4.0.0 | 1.64192E-05 | |
10120 | 43 | S/G | 73 | rs1577676588 | 0.2514 | None | gnomAD-4.0.0 | 1.20033E-06 | |
10120 | 43 | S/R | 73 | rs1292517657 | 0.2514 | None | gnomAD-2.1.1 | 4.01E-06 | |
10120 | 43 | S/R | 73 | rs1292517657 | 0.2514 | None | gnomAD-4.0.0 | 6.84134E-07 | |
10121 | 44 | Q/E | 111 | rs1433870889 | 1.0627 | None | gnomAD-2.1.1 | 4.01E-06 | |
10121 | 44 | Q/E | 111 | rs1433870889 | 1.0627 | None | gnomAD-4.0.0 | 4.77259E-06 | |
10121 | 44 | Q/H | 111 | rs1366841002 | 1.0627 | None | gnomAD-2.1.1 | 4.01E-06 | |
10121 | 44 | Q/H | 111 | rs1366841002 | 1.0627 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10123 | 46 | Y/C | 121 | None | 0.1749 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10124 | 47 | N/K | 122 | rs1163704372 | 0.3654 | None | gnomAD-2.1.1 | 4.01E-06 | |
10124 | 47 | N/K | 122 | rs1163704372 | 0.3654 | None | gnomAD-3.1.2 | 6.57E-06 | |
10124 | 47 | N/K | 122 | rs1163704372 | 0.3654 | None | gnomAD-4.0.0 | 2.56176E-06 | |
10124 | 47 | N/T | 122 | None | 0.3654 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10124 | 47 | N/Y | 122 | rs2075188829 | 0.3654 | None | gnomAD-3.1.2 | 6.57E-06 | |
10124 | 47 | N/Y | 122 | rs2075188829 | 0.3654 | None | gnomAD-4.0.0 | 6.57289E-06 | |
10125 | 48 | F/I | 123 | None | 0.2170 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10127 | 50 | N/I | 127 | rs756843499 | 0.6602 | None | gnomAD-2.1.1 | 4.01E-06 | |
10127 | 50 | N/I | 127 | rs756843499 | 0.6602 | None | gnomAD-3.1.2 | 6.57E-06 | |
10127 | 50 | N/I | 127 | rs756843499 | 0.6602 | None | gnomAD-4.0.0 | 3.04491E-06 | |
10127 | 50 | N/K | 127 | rs2075185543 | 0.6602 | None | gnomAD-3.1.2 | 6.57E-06 | |
10127 | 50 | N/K | 127 | rs2075185543 | 0.6602 | None | gnomAD-4.0.0 | 2.02995E-06 | |
10127 | 50 | N/T | 127 | None | 0.6602 | None | gnomAD-4.0.0 | 4.80129E-06 | |
10128 | 51 | D/Y | 130 | None | 0.8665 | None | gnomAD-4.0.0 | 1.36826E-06 | |
10130 | 53 | R/H | 134 | rs373355159 | 0.3493 | None | gnomAD-2.1.1 | 1.99525E-04 | |
10130 | 53 | R/H | 134 | rs373355159 | 0.3493 | None | gnomAD-3.1.2 | 1.90634E-04 | |
10130 | 53 | R/H | 134 | rs373355159 | 0.3493 | None | gnomAD-4.0.0 | 3.12305E-04 | |
10131 | 54 | C/W | 135 | rs913255032 | 0.2040 | None | gnomAD-4.0.0 | 1.59087E-06 | |
10132 | 55 | H/L | 136 | None | 0.1951 | None | gnomAD-4.0.0 | 3.42068E-06 | |
10132 | 55 | H/R | 136 | rs1057518758 | 0.1951 | None | gnomAD-2.1.1 | 3.19E-05 | |
10132 | 55 | H/R | 136 | rs1057518758 | 0.1951 | None | gnomAD-4.0.0 | 6.84137E-07 | |
10134 | 57 | M/I | 138 | None | 0.0532 | None | gnomAD-4.0.0 | 3.18188E-06 | |
10134 | 57 | M/T | 138 | rs755668668 | 0.0532 | None | gnomAD-2.1.1 | 4.01E-06 | |
10135 | 58 | T/I | 139 | rs138493804 | 0.1861 | None | gnomAD-2.1.1 | 4.01E-06 | |
10135 | 58 | T/I | 139 | rs138493804 | 0.1861 | None | gnomAD-3.1.2 | 6.57E-06 | |
10135 | 58 | T/I | 139 | rs138493804 | 0.1861 | None | 1000 genomes | 1.99681E-04 | |
10135 | 58 | T/I | 139 | rs138493804 | 0.1861 | None | gnomAD-4.0.0 | 1.30117E-05 | |
10137 | 60 | H/N | 141 | rs2075178264 | 0.4180 | None | gnomAD-3.1.2 | 6.57E-06 | |
10137 | 60 | H/N | 141 | rs2075178264 | 0.4180 | None | gnomAD-4.0.0 | 2.56188E-06 | |
10138 | 61 | N/D | 143 | None | 0.5229 | None | gnomAD-4.0.0 | 2.05243E-06 | |
10138 | 61 | N/H | 143 | rs539637860 | 0.5229 | None | gnomAD-2.1.1 | 4.01E-05 | |
10138 | 61 | N/H | 143 | rs539637860 | 0.5229 | None | gnomAD-3.1.2 | 4.6E-05 | |
10138 | 61 | N/H | 143 | rs539637860 | 0.5229 | None | 1000 genomes | 1.99681E-04 | |
10138 | 61 | N/H | 143 | rs539637860 | 0.5229 | None | gnomAD-4.0.0 | 2.04471E-05 | |
10138 | 61 | N/S | 143 | None | 0.5229 | None | gnomAD-4.0.0 | 1.5909E-06 | |
10141 | 64 | P/A | 146 | None | 0.4724 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10142 | 65 | D/N | 148 | rs1577675584 | 0.8638 | None | gnomAD-4.0.0 | 2.73666E-06 | |
10142 | 65 | D/Y | 148 | None | 0.8638 | None | gnomAD-4.0.0 | 2.05249E-06 | |
10143 | 66 | D/A | 149 | rs766264907 | 0.1534 | None | gnomAD-4.0.0 | 1.11375E-05 | |
10143 | 66 | D/G | 149 | rs766264907 | 0.1534 | None | gnomAD-2.1.1 | 4.01E-06 | |
10143 | 66 | D/G | 149 | rs766264907 | 0.1534 | None | gnomAD-3.1.2 | 6.58E-06 | |
10143 | 66 | D/G | 149 | rs766264907 | 0.1534 | None | gnomAD-4.0.0 | 6.57531E-06 | |
10143 | 66 | D/N | 149 | rs1553875406 | 0.1534 | None | gnomAD-4.0.0 | 1.20033E-06 | |
10144 | 67 | E/K | 151 | None | 0.3410 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10146 | 69 | V/D | 153 | rs372185371 | 0.4450 | None | gnomAD-2.1.1 | 1.43E-05 | |
10146 | 69 | V/D | 153 | rs372185371 | 0.4450 | None | gnomAD-3.1.2 | 6.57E-05 | |
10146 | 69 | V/D | 153 | rs372185371 | 0.4450 | None | gnomAD-4.0.0 | 9.91425E-06 | |
10146 | 69 | V/G | 153 | rs372185371 | 0.4450 | None | gnomAD-3.1.2 | 6.57E-06 | |
10146 | 69 | V/G | 153 | rs372185371 | 0.4450 | None | gnomAD-4.0.0 | 6.57272E-06 | |
10146 | 69 | V/I | 153 | rs1553875094 | 0.4450 | None | gnomAD-4.0.0 | 1.59088E-06 | |
10147 | 70 | Y/H | 154 | None | 0.0949 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10148 | 71 | S/L | 155 | rs766069724 | 0.1837 | None | gnomAD-2.1.1 | 3.21E-05 | |
10148 | 71 | S/L | 155 | rs766069724 | 0.1837 | None | gnomAD-3.1.2 | 1.31E-05 | |
10148 | 71 | S/L | 155 | rs766069724 | 0.1837 | None | gnomAD-4.0.0 | 1.4252E-05 | |
10150 | 73 | I/M | 157 | rs761922521 | 0.1039 | None | gnomAD-2.1.1 | 4.01E-06 | |
10150 | 73 | I/M | 157 | rs761922521 | 0.1039 | None | gnomAD-4.0.0 | 6.84136E-07 | |
10150 | 73 | I/V | 157 | None | 0.1039 | None | gnomAD-4.0.0 | 2.73654E-06 | |
10151 | 74 | A/T | 158 | rs965765805 | 0.0882 | None | gnomAD-3.1.2 | 1.31E-05 | |
10151 | 74 | A/T | 158 | rs965765805 | 0.0882 | None | gnomAD-4.0.0 | 4.05992E-06 | |
10152 | 75 | R/L | 159 | rs375796685 | 0.2728 | None | gnomAD-2.1.1 | 1.6E-05 | |
10152 | 75 | R/L | 159 | rs375796685 | 0.2728 | None | gnomAD-3.1.2 | 6.57E-06 | |
10152 | 75 | R/L | 159 | rs375796685 | 0.2728 | None | gnomAD-4.0.0 | 6.19649E-06 | |
10152 | 75 | R/Q | 159 | rs375796685 | 0.2728 | None | gnomAD-2.1.1 | 2.01E-05 | |
10152 | 75 | R/Q | 159 | rs375796685 | 0.2728 | None | gnomAD-3.1.2 | 1.31E-05 | |
10152 | 75 | R/Q | 159 | rs375796685 | 0.2728 | None | gnomAD-4.0.0 | 1.42519E-05 | |
10152 | 75 | R/W | 159 | rs1005491217 | 0.2728 | None | gnomAD-2.1.1 | 4.01E-06 | |
10152 | 75 | R/W | 159 | rs1005491217 | 0.2728 | None | gnomAD-3.1.2 | 6.57E-06 | |
10152 | 75 | R/W | 159 | rs1005491217 | 0.2728 | None | gnomAD-4.0.0 | 9.29483E-06 | |
10154 | 77 | E/G | 161 | rs761055099 | 0.6724 | None | gnomAD-2.1.1 | 4.01E-06 | |
10154 | 77 | E/G | 161 | rs761055099 | 0.6724 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10155 | 78 | P/L | 162 | None | 0.7160 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10156 | 79 | R/G | 163 | rs2075131070 | 0.2163 | None | gnomAD-3.1.2 | 6.57E-06 | |
10156 | 79 | R/G | 163 | rs2075131070 | 0.2163 | None | gnomAD-4.0.0 | 6.57013E-06 | |
10156 | 79 | R/S | 163 | None | 0.2163 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10156 | 79 | R/T | 163 | rs794729403 | 0.2163 | None | gnomAD-4.0.0 | 3.1817E-06 | |
10157 | 80 | G/R | 164 | None | 0.2930 | None | gnomAD-4.0.0 | 3.60097E-06 | |
10159 | 82 | A/V | 166 | rs1468822039 | 0.1458 | None | gnomAD-2.1.1 | 7.13E-06 | |
10159 | 82 | A/V | 166 | rs1468822039 | 0.1458 | None | gnomAD-3.1.2 | 6.57E-06 | |
10159 | 82 | A/V | 166 | rs1468822039 | 0.1458 | None | gnomAD-4.0.0 | 2.56175E-06 | |
10160 | 83 | R/K | 168 | None | 0.4865 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10160 | 83 | R/S | 168 | None | 0.4865 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10162 | 85 | T/M | 171 | rs200593368 | 0.5374 | None | gnomAD-2.1.1 | 3.95463E-04 | |
10162 | 85 | T/M | 171 | rs200593368 | 0.5374 | None | gnomAD-3.1.2 | 2.8269E-04 | |
10162 | 85 | T/M | 171 | rs200593368 | 0.5374 | None | 1000 genomes | 1.99681E-04 | |
10162 | 85 | T/M | 171 | rs200593368 | 0.5374 | None | gnomAD-4.0.0 | 5.68179E-04 | |
10162 | 85 | T/R | 171 | None | 0.5374 | None | gnomAD-4.0.0 | 6.84135E-07 | |
10164 | 87 | E/D | 173 | rs1064797276 | 0.3138 | None | gnomAD-2.1.1 | 4.01E-06 | |
10164 | 87 | E/D | 173 | rs1064797276 | 0.3138 | None | gnomAD-3.1.2 | 6.57E-06 | |
10164 | 87 | E/D | 173 | rs1064797276 | 0.3138 | None | gnomAD-4.0.0 | 6.84134E-07 |