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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
R P S A P K E L K F G D I T K D S V H L T W E P P D D D G G S P L T G Y V V E K R E V S R K T W T K V M D F V T D L E F T V P D L V Q G K E Y L F K V C A R N K C G P G E P A Y V D E P V N M S T P A T V P D P P E N V K W R D R T A N S I F L T W D P P K N D G G S R I K G Y I V E R C P R G S D K W V A C G E P V A E T K M E V T G L E E G K W Y A Y R V K A L N R Q G A S K P S R P T E E I Q A V D T
R P S A P K E L K F G D I T K D S V H L T W E P P D D D G G S P L T G Y V V E K R E V S R K T W T K V M D F V T D L E F T V P D L V Q G K E Y L F K V C A R N K C G P G E P A Y V D E P V N M S - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - T

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16055 1 R/C 1 rs1012450335 0.5836 None gnomAD-2.1.1 7.2E-06
16055 1 R/C 1 rs1012450335 0.5836 None gnomAD-3.1.2 6.6E-06
16055 1 R/C 1 rs1012450335 0.5836 None gnomAD-4.0.0 7.44848E-06
16055 1 R/H 1 rs72677238 0.5836 None gnomAD-2.1.1 1.21551E-04
16055 1 R/H 1 rs72677238 0.5836 None gnomAD-3.1.2 3.3E-05
16055 1 R/H 1 rs72677238 0.5836 None gnomAD-4.0.0 1.07402E-04
16056 2 P/L 2 rs752993848 0.1180 None gnomAD-2.1.1 8.25E-05
16056 2 P/L 2 rs752993848 0.1180 None gnomAD-3.1.2 6.59E-06
16056 2 P/L 2 rs752993848 0.1180 None gnomAD-4.0.0 2.29556E-05
16056 2 P/S 2 rs2057390140 0.1180 None gnomAD-4.0.0 1.59508E-06
16057 3 S/G 3 rs886042119 0.2336 None gnomAD-4.0.0 2.73938E-06
16057 3 S/R 3 rs886042119 0.2336 None gnomAD-3.1.2 6.59E-06
16057 3 S/R 3 rs886042119 0.2336 None gnomAD-4.0.0 2.56759E-06
16057 3 S/T 3 rs548796322 0.2336 None gnomAD-3.1.2 6.59E-06
16057 3 S/T 3 rs548796322 0.2336 None 1000 genomes 1.99681E-04
16057 3 S/T 3 rs548796322 0.2336 None gnomAD-4.0.0 2.03042E-06
16058 4 A/V 4 rs767579172 0.2122 None gnomAD-4.0.0 2.05454E-06
16059 5 P/H 5 None 0.1427 None gnomAD-4.0.0 1.59465E-06
16059 5 P/L 5 rs2057387572 0.1427 None gnomAD-3.1.2 6.6E-06
16059 5 P/L 5 rs2057387572 0.1427 None gnomAD-4.0.0 6.5957E-06
16059 5 P/S 5 None 0.1427 None gnomAD-4.0.0 1.36966E-06
16059 5 P/T 5 None 0.1427 None gnomAD-4.0.0 6.84832E-07
16060 6 K/E 6 rs2057387280 0.2992 None gnomAD-4.0.0 1.20032E-06
16062 8 L/F 9 None 0.1660 None gnomAD-4.0.0 1.20032E-06
16064 10 F/C 12 None 0.3785 None gnomAD-4.0.0 1.59429E-06
16065 11 G/D 13 rs1490446261 0.3595 None gnomAD-4.0.0 6.00162E-06
16067 13 I/K 15 None 0.3490 None gnomAD-4.0.0 1.36952E-06
16067 13 I/R 15 rs2057385323 0.3490 None gnomAD-3.1.2 6.58E-06
16067 13 I/R 15 rs2057385323 0.3490 None gnomAD-4.0.0 6.58458E-06
16067 13 I/T 15 rs2057385323 0.3490 None gnomAD-4.0.0 1.36952E-06
16067 13 I/V 15 rs1272100018 0.3490 None gnomAD-2.1.1 4.04E-06
16067 13 I/V 15 rs1272100018 0.3490 None gnomAD-4.0.0 1.59426E-06
16069 15 K/E 17 rs752099554 0.6138 None gnomAD-2.1.1 4.04E-06
16069 15 K/E 17 rs752099554 0.6138 None gnomAD-4.0.0 1.59419E-06
16070 16 D/A 18 rs2057384107 0.3417 None gnomAD-3.1.2 6.59E-06
16070 16 D/A 18 rs2057384107 0.3417 None gnomAD-4.0.0 2.56708E-06
16070 16 D/E 18 None 0.3417 None gnomAD-4.0.0 1.59418E-06
16071 17 S/L 19 rs794727332 0.1721 None gnomAD-2.1.1 8.07E-06
16071 17 S/L 19 rs794727332 0.1721 None gnomAD-4.0.0 2.19121E-05
16072 18 V/I 20 rs1259814759 0.0979 None gnomAD-2.1.1 6.38E-05
16072 18 V/I 20 rs1259814759 0.0979 None gnomAD-3.1.2 6.59E-06
16072 18 V/I 20 rs1259814759 0.0979 None gnomAD-4.0.0 1.2405E-06
16072 18 V/L 20 None 0.0979 None gnomAD-4.0.0 6.84744E-07
16073 19 H/R 21 None 0.2976 None gnomAD-4.0.0 1.59406E-06
16073 19 H/Y 21 rs1343135130 0.2976 None gnomAD-2.1.1 4.03E-06
16073 19 H/Y 21 rs1343135130 0.2976 None gnomAD-4.0.0 1.59414E-06
16074 20 L/F 22 rs1285719180 0.1041 None gnomAD-2.1.1 4.03E-06
16074 20 L/F 22 rs1285719180 0.1041 None gnomAD-4.0.0 6.84733E-07
16075 21 T/S 23 rs773602170 0.3384 None gnomAD-2.1.1 4.03E-06
16075 21 T/S 23 rs773602170 0.3384 None gnomAD-4.0.0 1.59408E-06
16079 25 P/H 27 None 0.1625 None gnomAD-4.0.0 6.84724E-07
16079 25 P/R 27 None 0.1625 None gnomAD-4.0.0 6.84724E-07
16079 25 P/S 27 rs760271431 0.1625 None gnomAD-2.1.1 1.21E-05
16079 25 P/S 27 rs760271431 0.1625 None gnomAD-4.0.0 4.78197E-06
16080 26 D/G 28 rs775135961 0.8570 None gnomAD-2.1.1 4.03E-06
16080 26 D/G 28 rs775135961 0.8570 None gnomAD-3.1.2 6.58E-06
16080 26 D/G 28 rs775135961 0.8570 None gnomAD-4.0.0 5.13317E-06
16080 26 D/N 28 rs1397418209 0.8570 None gnomAD-2.1.1 4.03E-06
16080 26 D/N 28 rs1397418209 0.8570 None gnomAD-4.0.0 1.59397E-06
16081 27 D/G 29 None 0.5605 None gnomAD-4.0.0 1.59394E-06
16081 27 D/N 29 None 0.5605 None gnomAD-4.0.0 4.8013E-06
16082 28 D/E 30 None 0.2542 None gnomAD-4.0.0 6.84712E-07
16082 28 D/G 30 rs1468269495 0.2542 None gnomAD-2.1.1 4.03E-06
16082 28 D/G 30 rs1468269495 0.2542 None gnomAD-4.0.0 3.18795E-06
16083 29 G/E 31 rs778888847 0.3377 None gnomAD-2.1.1 8.07E-06
16083 29 G/E 31 rs778888847 0.3377 None gnomAD-4.0.0 4.78191E-06
16083 29 G/R 31 rs745429154 0.3377 None gnomAD-2.1.1 4.03E-06
16083 29 G/R 31 rs745429154 0.3377 None gnomAD-4.0.0 1.594E-06
16084 30 G/A 32 None 0.5821 None gnomAD-4.0.0 6.84696E-07
16084 30 G/E 32 None 0.5821 None gnomAD-4.0.0 6.84696E-07
16084 30 G/R 32 rs1331594861 0.5821 None gnomAD-3.1.2 6.59E-06
16084 30 G/R 32 rs1331594861 0.5821 None gnomAD-4.0.0 6.58683E-06
16086 32 P/L 34 rs567496224 0.6948 None gnomAD-2.1.1 8.07E-06
16086 32 P/L 34 rs567496224 0.6948 None gnomAD-3.1.2 6.59E-06
16086 32 P/L 34 rs567496224 0.6948 None 1000 genomes 1.99681E-04
16086 32 P/L 34 rs567496224 0.6948 None gnomAD-4.0.0 2.17098E-05
16089 35 G/E 37 None 0.1272 None gnomAD-4.0.0 1.59398E-06
16089 35 G/R 37 rs2057375526 0.1272 None gnomAD-3.1.2 6.59E-06
16089 35 G/R 37 rs2057375526 0.1272 None gnomAD-4.0.0 6.5864E-06
16090 36 Y/C 38 rs752903826 0.1309 None gnomAD-4.0.0 1.59404E-06
16091 37 V/I 39 rs369143612 0.1705 None gnomAD-2.1.1 3.94E-05
16091 37 V/I 39 rs369143612 0.1705 None gnomAD-3.1.2 5.93E-05
16091 37 V/I 39 rs369143612 0.1705 None gnomAD-4.0.0 1.05436E-05
16091 37 V/L 39 rs369143612 0.1705 None gnomAD-3.1.2 6.59E-06
16091 37 V/L 39 rs369143612 0.1705 None gnomAD-4.0.0 6.58692E-06
16092 38 V/I 40 None 0.1075 None gnomAD-4.0.0 3.18841E-06
16093 39 E/Q 41 rs1320775896 0.1826 None gnomAD-2.1.1 4.04E-06
16093 39 E/Q 41 rs1320775896 0.1826 None gnomAD-4.0.0 1.59429E-06
16095 41 R/Q 43 rs369453963 0.2623 None gnomAD-2.1.1 2.87E-05
16095 41 R/Q 43 rs369453963 0.2623 None gnomAD-3.1.2 1.98E-05
16095 41 R/Q 43 rs369453963 0.2623 None gnomAD-4.0.0 8.68408E-06
16097 43 V/I 50 rs550894260 0.4243 None gnomAD-2.1.1 8.08E-06
16097 43 V/I 50 rs550894260 0.4243 None gnomAD-3.1.2 1.32E-05
16097 43 V/I 50 rs550894260 0.4243 None 1000 genomes 3.99361E-04
16097 43 V/I 50 rs550894260 0.4243 None gnomAD-4.0.0 3.10125E-06
16098 44 S/G 54 rs750949782 0.4953 None gnomAD-2.1.1 4.04E-06
16098 44 S/G 54 rs750949782 0.4953 None gnomAD-4.0.0 3.18902E-06
16099 45 R/Q 60 rs376747673 0.6351 None gnomAD-2.1.1 3.23E-05
16099 45 R/Q 60 rs376747673 0.6351 None gnomAD-3.1.2 4.61E-05
16099 45 R/Q 60 rs376747673 0.6351 None gnomAD-4.0.0 6.82414E-05
16099 45 R/W 60 rs765526529 0.6351 None gnomAD-2.1.1 1.21E-05
16099 45 R/W 60 rs765526529 0.6351 None gnomAD-3.1.2 6.59E-06
16099 45 R/W 60 rs765526529 0.6351 None gnomAD-4.0.0 1.61313E-05
16100 46 K/E 63 None 1.0301 None gnomAD-4.0.0 1.59465E-06
16101 47 T/I 64 None 0.7064 None gnomAD-4.0.0 1.59478E-06
16101 47 T/S 64 rs1450802850 0.7064 None gnomAD-2.1.1 4.04E-06
16101 47 T/S 64 rs1450802850 0.7064 None gnomAD-4.0.0 1.59473E-06
16102 48 W/R 65 rs1177161673 0.2612 None gnomAD-2.1.1 4.04E-06
16102 48 W/R 65 rs1177161673 0.2612 None gnomAD-4.0.0 1.36972E-06
16103 49 T/I 66 None 0.5275 None gnomAD-4.0.0 6.84876E-07
16103 49 T/S 66 rs1411572700 0.5275 None gnomAD-3.1.2 6.59E-06
16103 49 T/S 66 rs1411572700 0.5275 None gnomAD-4.0.0 6.58553E-06
16104 50 K/E 67 rs1399165116 0.4122 None gnomAD-3.1.2 1.32E-05
16104 50 K/E 67 rs1399165116 0.4122 None gnomAD-4.0.0 3.10166E-06
16104 50 K/T 67 rs1060500396 0.4122 None gnomAD-4.0.0 1.20032E-06
16105 51 V/I 68 None 0.2239 None gnomAD-4.0.0 1.37488E-06
16106 52 M/I 69 rs762621076 0.3412 None gnomAD-2.1.1 8.15E-06
16106 52 M/I 69 rs762621076 0.3412 None gnomAD-3.1.2 6.59E-06
16106 52 M/I 69 rs762621076 0.3412 None gnomAD-4.0.0 1.03064E-05
16106 52 M/T 69 None 0.3412 None gnomAD-4.0.0 1.20032E-06
16107 53 D/G 70 rs775805942 0.4917 None gnomAD-3.1.2 1.98E-05
16107 53 D/G 70 rs775805942 0.4917 None gnomAD-4.0.0 2.79629E-05
16109 55 V/M 77 None 0.1372 None gnomAD-4.0.0 1.59682E-06
16110 56 T/S 83 None 0.6063 None gnomAD-4.0.0 1.59685E-06
16111 57 D/E 88 None 0.6747 None gnomAD-4.0.0 1.59582E-06
16111 57 D/N 88 rs769898196 0.6747 None gnomAD-2.1.1 1.21E-05
16111 57 D/N 88 rs769898196 0.6747 None gnomAD-4.0.0 3.42542E-06
16112 58 L/V 89 rs747917712 0.3073 None gnomAD-2.1.1 4.04E-06
16112 58 L/V 89 rs747917712 0.3073 None gnomAD-4.0.0 3.42527E-06
16113 59 E/D 90 None 0.5393 None gnomAD-4.0.0 1.59558E-06
16113 59 E/K 90 rs548275593 0.5393 None gnomAD-2.1.1 6.86E-05
16113 59 E/K 90 rs548275593 0.5393 None gnomAD-3.1.2 2.63E-05
16113 59 E/K 90 rs548275593 0.5393 None gnomAD-4.0.0 3.72259E-05
16115 61 T/I 92 rs1361995359 0.3211 None gnomAD-2.1.1 4.03E-06
16115 61 T/I 92 rs1361995359 0.3211 None gnomAD-4.0.0 4.10984E-06
16115 61 T/R 92 None 0.3211 None gnomAD-4.0.0 6.84974E-07
16116 62 V/A 93 None 0.1050 None gnomAD-4.0.0 2.40065E-06
16116 62 V/D 93 rs747142700 0.1050 None gnomAD-2.1.1 4.03E-06
16116 62 V/D 93 rs747142700 0.1050 None gnomAD-3.1.2 1.97E-05
16116 62 V/D 93 rs747142700 0.1050 None gnomAD-4.0.0 1.97431E-05
16116 62 V/I 93 rs367769671 0.1050 None gnomAD-2.1.1 1.61E-05
16116 62 V/I 93 rs367769671 0.1050 None gnomAD-3.1.2 1.97E-05
16116 62 V/I 93 rs367769671 0.1050 None gnomAD-4.0.0 5.21137E-05
16117 63 P/A 94 None 0.4092 None gnomAD-4.0.0 2.40064E-06
16117 63 P/L 94 None 0.4092 None gnomAD-4.0.0 1.59514E-06
16118 64 D/G 96 rs376273101 0.7998 None gnomAD-2.1.1 2.2911E-04
16118 64 D/G 96 rs376273101 0.7998 None gnomAD-3.1.2 1.58007E-04
16118 64 D/G 96 rs376273101 0.7998 None 1000 genomes 3.99361E-04
16118 64 D/G 96 rs376273101 0.7998 None gnomAD-4.0.0 8.18837E-05
16118 64 D/V 96 None 0.7998 None gnomAD-4.0.0 6.84916E-07
16119 65 L/I 97 rs1576477522 0.1077 None gnomAD-4.0.0 1.595E-06
16120 66 V/A 98 rs745999025 0.5029 None gnomAD-2.1.1 7.16E-06
16120 66 V/A 98 rs745999025 0.5029 None gnomAD-3.1.2 2.63E-05
16120 66 V/A 98 rs745999025 0.5029 None gnomAD-4.0.0 5.07592E-06
16121 67 Q/E 99 rs779364355 0.6256 None gnomAD-2.1.1 1.21E-05
16121 67 Q/E 99 rs779364355 0.6256 None gnomAD-3.1.2 6.59E-06
16121 67 Q/E 99 rs779364355 0.6256 None gnomAD-4.0.0 1.79758E-05
16121 67 Q/H 99 None 0.6256 None gnomAD-4.0.0 1.59477E-06
16123 69 K/N 102 rs374696964 0.3464 None gnomAD-2.1.1 1.21E-05
16123 69 K/N 102 rs374696964 0.3464 None gnomAD-3.1.2 6.58E-06
16123 69 K/N 102 rs374696964 0.3464 None gnomAD-4.0.0 3.85076E-06
16124 70 E/K 103 rs754392831 0.3438 None gnomAD-2.1.1 1.21E-05
16126 72 L/S 105 rs764312225 0.1991 None gnomAD-2.1.1 4.03E-06
16126 72 L/S 105 rs764312225 0.1991 None gnomAD-4.0.0 3.18862E-06
16127 73 F/C 106 None 0.1286 None gnomAD-4.0.0 1.5945E-06
16128 74 K/E 107 None 0.1069 None gnomAD-4.0.0 1.59428E-06
16128 74 K/T 107 None 0.1069 None gnomAD-4.0.0 3.18852E-06
16129 75 V/I 108 rs756510403 0.0893 None gnomAD-2.1.1 4.03E-06
16129 75 V/I 108 rs756510403 0.0893 None gnomAD-3.1.2 6.58E-06
16129 75 V/I 108 rs756510403 0.0893 None gnomAD-4.0.0 2.56674E-06
16131 77 A/G 110 None 0.0941 None gnomAD-4.0.0 1.20032E-06
16131 77 A/P 110 None 0.0941 None gnomAD-4.0.0 6.84742E-07
16131 77 A/S 110 rs571868215 0.0941 None gnomAD-2.1.1 4.03E-06
16131 77 A/S 110 rs571868215 0.0941 None gnomAD-3.1.2 6.58E-06
16131 77 A/S 110 rs571868215 0.0941 None 1000 genomes 1.99681E-04
16131 77 A/S 110 rs571868215 0.0941 None gnomAD-4.0.0 6.82197E-06
16132 78 R/C 111 rs2303830 0.3851 None gnomAD-2.1.1 1.60964E-04
16132 78 R/C 111 rs2303830 0.3851 None gnomAD-3.1.2 2.43674E-04
16132 78 R/C 111 rs2303830 0.3851 None 1000 genomes 5.99042E-04
16132 78 R/C 111 rs2303830 0.3851 None gnomAD-4.0.0 3.15067E-04
16132 78 R/H 111 rs397517593 0.3851 None gnomAD-2.1.1 5.37E-05
16132 78 R/H 111 rs397517593 0.3851 None gnomAD-3.1.2 1.98E-05
16132 78 R/H 111 rs397517593 0.3851 None gnomAD-4.0.0 5.21002E-05
16133 79 N/K 112 rs1060500470 0.1072 MmD
Literature None
16134 80 K/N 113 rs772886163 0.7088 None gnomAD-2.1.1 4.03E-06
16134 80 K/N 113 rs772886163 0.7088 None gnomAD-3.1.2 1.32E-05
16134 80 K/N 113 rs772886163 0.7088 None gnomAD-4.0.0 1.31614E-05
16134 80 K/R 113 rs1197839427 0.7088 None gnomAD-2.1.1 4.03E-06
16134 80 K/R 113 rs1197839427 0.7088 None gnomAD-4.0.0 1.59398E-06
16135 81 C/R 114 rs1266340994 0.4769 None gnomAD-2.1.1 4.03E-06
16135 81 C/R 114 rs1266340994 0.4769 None gnomAD-4.0.0 1.59396E-06
16135 81 C/Y 114 None 0.4769 None gnomAD-4.0.0 1.20033E-06
16137 83 P/R 117 rs982994931 0.4574 None gnomAD-2.1.1 4.03E-06
16137 83 P/R 117 rs982994931 0.4574 None gnomAD-4.0.0 1.59387E-06
16137 83 P/S 117 rs879009898 0.4574 None gnomAD-3.1.2 6.59E-06
16137 83 P/S 117 rs879009898 0.4574 None gnomAD-4.0.0 1.17846E-05
16140 86 P/L 120 None 0.2625 None gnomAD-4.0.0 1.59393E-06
16140 86 P/S 120 rs1219372837 0.2625 None gnomAD-2.1.1 4.03E-06
16140 86 P/S 120 rs1219372837 0.2625 None gnomAD-4.0.0 1.36939E-06
16141 87 A/V 121 None 0.1049 None gnomAD-4.0.0 2.7388E-06
16142 88 Y/C 122 rs761603067 0.3886 None gnomAD-2.1.1 4.03E-06
16142 88 Y/D 122 None 0.3886 None gnomAD-4.0.0 1.59393E-06
16143 89 V/I 123 rs2057207422 0.1815 None gnomAD-3.1.2 6.58E-06
16143 89 V/I 123 rs2057207422 0.1815 None gnomAD-4.0.0 6.58241E-06
16144 90 D/A 124 rs879133118 1.0196 None gnomAD-2.1.1 2.01E-05
16144 90 D/A 124 rs879133118 1.0196 None gnomAD-3.1.2 5.27E-05
16144 90 D/A 124 rs879133118 1.0196 None gnomAD-4.0.0 7.44259E-06
16144 90 D/E 124 rs776643336 1.0196 None gnomAD-4.0.0 6.84702E-07
16147 93 V/I 127 None 0.1352 None gnomAD-4.0.0 6.84739E-07
16147 93 V/L 127 rs768269007 0.1352 None gnomAD-2.1.1 4.03E-06
16147 93 V/L 127 rs768269007 0.1352 None gnomAD-4.0.0 1.36948E-06
16149 95 M/I 130 rs2057204111 0.1222 None gnomAD-4.0.0 2.05432E-06
16149 95 M/R 130 rs760582847 0.1222 None gnomAD-2.1.1 4.03E-06
16149 95 M/R 130 rs760582847 0.1222 None gnomAD-4.0.0 1.36952E-06
16149 95 M/T 130 rs760582847 0.1222 None gnomAD-2.1.1 1.79E-05
16149 95 M/T 130 rs760582847 0.1222 None gnomAD-3.1.2 6.58E-06
16149 95 M/T 130 rs760582847 0.1222 None gnomAD-4.0.0 8.06297E-06
16149 95 M/V 130 rs2057205184 0.1222 None gnomAD-4.0.0 6.84764E-07
16150 96 S/L 131 None 0.6614 None gnomAD-4.0.0 6.84768E-07
16151 97 T/A 132 rs186497293 0.9765 None gnomAD-2.1.1 2.64832E-04
16151 97 T/A 132 rs186497293 0.9765 None gnomAD-3.1.2 6.71866E-04
16151 97 T/A 132 rs186497293 0.9765 None 1000 genomes 1.19808E-03
16151 97 T/A 132 rs186497293 0.9765 None gnomAD-4.0.0 1.32734E-04
16151 97 T/N 132 rs1188604829 0.9765 None gnomAD-3.1.2 6.58E-06
16151 97 T/N 132 rs1188604829 0.9765 None gnomAD-4.0.0 6.58285E-06
16151 97 T/P 132 rs186497293 0.9765 None gnomAD-2.1.1 8.06E-06
16151 97 T/P 132 rs186497293 0.9765 None gnomAD-3.1.2 3.29E-05
16151 97 T/P 132 rs186497293 0.9765 None gnomAD-4.0.0 4.96239E-06