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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
I P S P P G I P E E V G T G K E H I I I Q W T K P E S D G G N E I S N Y L V D K R E K K S L R W T R V N K D Y V V Y D T R L K V T S L M E G C D Y Q F R V T A V N A A G N S E P S E A S N F I S C R E P
I P S P P G I P E E V G T G K E H I I I Q W T K P E S D G G N E I S N Y L V D K R E K K S L R W T R V N K D Y V V Y D T R L K V T S L M E G C D Y Q F R V T A V N A A G N S E P S E A S N F I S C R E -

Map SAVs to Structure

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
31808 2 P/Q 2 None 0.1123 None gnomAD-4.0.0 1.20033E-06
31809 3 S/P 3 None 0.1906 None gnomAD-4.0.0 3.42417E-06
31810 4 P/T 4 None 0.3487 None gnomAD-4.0.0 1.59393E-06
31811 5 P/A 5 rs373291051 0.1368 None gnomAD-2.1.1 7.15E-06
31811 5 P/A 5 rs373291051 0.1368 None gnomAD-4.0.0 2.73856E-06
31811 5 P/S 5 rs373291051 0.1368 None gnomAD-3.1.2 6.57E-06
31811 5 P/S 5 rs373291051 0.1368 None gnomAD-4.0.0 1.86013E-06
31812 6 G/S 6 rs754416007 0.2211 None gnomAD-2.1.1 1.61E-05
31812 6 G/S 6 rs754416007 0.2211 None gnomAD-4.0.0 1.64306E-05
31814 8 P/A 9 rs370079368 0.1424 None gnomAD-2.1.1 4.02E-06
31814 8 P/R 9 None 0.1424 None gnomAD-4.0.0 1.59243E-06
31815 9 E/K 11 rs779953291 0.7533 None gnomAD-2.1.1 4.02E-06
31815 9 E/K 11 rs779953291 0.7533 None gnomAD-4.0.0 2.05303E-06
31816 10 E/K 12 None 0.3790 None gnomAD-4.0.0 1.20032E-06
31816 10 E/V 12 rs1226499081 0.3790 None gnomAD-2.1.1 4.02E-06
31816 10 E/V 12 rs1226499081 0.3790 None gnomAD-4.0.0 1.59188E-06
31817 11 V/A 13 rs758207460 0.4296 None gnomAD-2.1.1 8.44E-05
31817 11 V/A 13 rs758207460 0.4296 None gnomAD-3.1.2 1.7748E-04
31817 11 V/A 13 rs758207460 0.4296 None gnomAD-4.0.0 3.78062E-05
31817 11 V/L 13 rs1322909513 0.4296 None gnomAD-3.1.2 6.57E-06
31817 11 V/L 13 rs1322909513 0.4296 None gnomAD-4.0.0 6.57047E-06
31819 13 T/P 15 None 0.2434 None gnomAD-4.0.0 1.59158E-06
31821 15 K/R 17 rs372388579 0.3490 None gnomAD-2.1.1 2.5E-05
31821 15 K/R 17 rs372388579 0.3490 None gnomAD-3.1.2 6.57E-05
31821 15 K/R 17 rs372388579 0.3490 None gnomAD-4.0.0 1.17745E-05
31822 16 E/A 18 None 0.6731 None gnomAD-4.0.0 4.77426E-06
31822 16 E/D 18 rs1302716458 0.6731 None gnomAD-2.1.1 4.02E-06
31822 16 E/D 18 rs1302716458 0.6731 None gnomAD-4.0.0 1.59143E-06
31822 16 E/K 18 rs986919717 0.6731 None gnomAD-4.0.0 1.59144E-06
31823 17 H/R 19 rs794729539 0.2644 None gnomAD-2.1.1 8.04E-06
31823 17 H/R 19 rs794729539 0.2644 None gnomAD-3.1.2 1.97E-05
31823 17 H/R 19 rs794729539 0.2644 None gnomAD-4.0.0 2.04499E-05
31825 19 I/L 21 None 0.2082 None gnomAD-4.0.0 1.59137E-06
31825 19 I/V 21 rs1393236297 0.2082 None gnomAD-2.1.1 1.21E-05
31825 19 I/V 21 rs1393236297 0.2082 None gnomAD-4.0.0 4.77411E-06
31826 20 I/F 22 rs1441494363 0.0876 None gnomAD-2.1.1 6.37E-05
31826 20 I/F 22 rs1441494363 0.0876 None gnomAD-3.1.2 2.63E-05
31826 20 I/F 22 rs1441494363 0.0876 None gnomAD-4.0.0 2.62784E-05
31826 20 I/V 22 rs1441494363 0.0876 None gnomAD-4.0.0 1.36846E-06
31829 23 T/R 25 rs762048345 0.6799 None gnomAD-2.1.1 8.03E-06
31829 23 T/R 25 rs762048345 0.6799 None gnomAD-3.1.2 6.57E-06
31829 23 T/R 25 rs762048345 0.6799 None gnomAD-4.0.0 6.40628E-06
31832 26 E/A 28 None 1.0239 None gnomAD-4.0.0 1.36847E-06
31832 26 E/K 28 rs753982218 1.0239 None gnomAD-2.1.1 8.03E-06
31832 26 E/K 28 rs753982218 1.0239 None gnomAD-3.1.2 6.57E-06
31832 26 E/K 28 rs753982218 1.0239 None gnomAD-4.0.0 6.40579E-06
31832 26 E/V 28 None 1.0239 None gnomAD-4.0.0 6.84233E-06
31833 27 S/T 29 rs764271138 0.3733 None gnomAD-2.1.1 1.61E-05
31833 27 S/T 29 rs764271138 0.3733 None gnomAD-3.1.2 6.57E-06
31833 27 S/T 29 rs764271138 0.3733 None gnomAD-4.0.0 5.57753E-06
31834 28 D/A 30 rs902706151 0.2936 None gnomAD-2.1.1 7.13E-06
31834 28 D/A 30 rs902706151 0.2936 None gnomAD-3.1.2 1.31E-05
31834 28 D/A 30 rs902706151 0.2936 None gnomAD-4.0.0 3.84336E-06
31834 28 D/H 30 None 0.2936 None gnomAD-4.0.0 1.5914E-06
31834 28 D/Y 30 rs1696707547 0.2936 None gnomAD-4.0.0 1.5914E-06
31835 29 G/D 31 rs760663349 0.3875 None gnomAD-2.1.1 4.02E-06
31835 29 G/R 31 None 0.3875 None gnomAD-4.0.0 1.20032E-06
31836 30 G/D 32 None 0.6004 None gnomAD-4.0.0 1.59139E-06
31837 31 N/S 33 None 0.3911 None gnomAD-4.0.0 1.20032E-06
31838 32 E/G 34 rs1196738790 0.7988 None gnomAD-2.1.1 4.02E-06
31838 32 E/G 34 rs1196738790 0.7988 None gnomAD-4.0.0 2.73693E-06
31838 32 E/V 34 None 0.7988 None gnomAD-4.0.0 1.36847E-06
31840 34 S/N 36 rs1696700303 0.3331 None gnomAD-3.1.2 6.57E-06
31840 34 S/N 36 rs1696700303 0.3331 None gnomAD-4.0.0 6.57194E-06
31841 35 N/D 37 rs794729540 0.1861 None gnomAD-2.1.1 3.19E-05
31841 35 N/D 37 rs794729540 0.1861 None gnomAD-3.1.2 1.97E-05
31841 35 N/D 37 rs794729540 0.1861 None gnomAD-4.0.0 1.6732E-05
31841 35 N/Y 37 None 0.1861 None gnomAD-4.0.0 6.84233E-07
31842 36 Y/D 38 rs1452962684 0.1128 None gnomAD-2.1.1 4.02E-06
31842 36 Y/D 38 rs1452962684 0.1128 None gnomAD-4.0.0 1.36847E-06
31843 37 L/P 39 rs1696696732 0.2061 None gnomAD-3.1.2 6.57E-06
31843 37 L/P 39 rs1696696732 0.2061 None gnomAD-4.0.0 6.57376E-06
31843 37 L/R 39 None 0.2061 None gnomAD-4.0.0 1.5914E-06
31844 38 V/A 40 rs776197188 0.1047 None gnomAD-2.1.1 1.07E-05
31844 38 V/A 40 rs776197188 0.1047 None gnomAD-3.1.2 1.32E-05
31844 38 V/A 40 rs776197188 0.1047 None gnomAD-4.0.0 4.33817E-06
31844 38 V/I 40 None 0.1047 None gnomAD-4.0.0 2.40064E-06
31845 39 D/N 41 rs772648821 0.1530 None gnomAD-2.1.1 4.02E-06
31846 40 K/R 42 rs759982252 0.1988 None gnomAD-2.1.1 1.2E-05
31846 40 K/R 42 rs759982252 0.1988 None gnomAD-3.1.2 2.63E-05
31846 40 K/R 42 rs759982252 0.1988 None gnomAD-4.0.0 8.96817E-06
31847 41 R/C 43 rs774814532 0.2357 None gnomAD-2.1.1 2.41E-05
31847 41 R/C 43 rs774814532 0.2357 None gnomAD-3.1.2 6.57E-06
31847 41 R/C 43 rs774814532 0.2357 None gnomAD-4.0.0 1.36341E-05
31847 41 R/H 43 rs771179752 0.2357 None gnomAD-2.1.1 4.02E-05
31847 41 R/H 43 rs771179752 0.2357 None gnomAD-3.1.2 1.31E-05
31847 41 R/H 43 rs771179752 0.2357 None gnomAD-4.0.0 4.46199E-05
31847 41 R/P 43 rs771179752 0.2357 MmD
Literature None
31847 41 R/P 43 rs771179752 0.2357 None gnomAD-4.0.0 6.84237E-07
31851 45 S/N 60 rs746468000 0.2805 None gnomAD-2.1.1 4.02E-06
31851 45 S/N 60 rs746468000 0.2805 None gnomAD-3.1.2 6.57E-06
31851 45 S/N 60 rs746468000 0.2805 None gnomAD-4.0.0 1.23945E-06
31852 46 L/P 63 rs62621206 1.2272 None gnomAD-2.1.1 1.08384E-02
31852 46 L/P 63 rs62621206 1.2272 None gnomAD-3.1.2 1.12135E-02
31852 46 L/P 63 rs62621206 1.2272 None 1000 genomes 5.59105E-03
31852 46 L/P 63 rs62621206 1.2272 None gnomAD-4.0.0 1.51072E-02
31852 46 L/Q 63 None 1.2272 None gnomAD-2.1.1 4.02E-06
31852 46 L/Q 63 None 1.2272 None gnomAD-4.0.0 1.36847E-06
31852 46 L/R 63 rs62621206 1.2272 None gnomAD-2.1.1 4.02E-06
31853 47 R/C 64 rs727503542 0.7595 None gnomAD-2.1.1 1.78E-05
31853 47 R/C 64 rs727503542 0.7595 None gnomAD-3.1.2 3.29E-05
31853 47 R/C 64 rs727503542 0.7595 None gnomAD-4.0.0 3.78017E-05
31853 47 R/H 64 rs754151944 0.7595 None gnomAD-2.1.1 8.2E-05
31853 47 R/H 64 rs754151944 0.7595 None gnomAD-3.1.2 1.05161E-04
31853 47 R/H 64 rs754151944 0.7595 None gnomAD-4.0.0 2.29298E-05
31853 47 R/S 64 rs727503542 0.7595 None gnomAD-4.0.0 6.84242E-07
31854 48 W/C 65 rs752756889 0.2637 None gnomAD-2.1.1 1.2E-05
31854 48 W/C 65 rs752756889 0.2637 None gnomAD-3.1.2 6.57E-06
31854 48 W/C 65 rs752756889 0.2637 None gnomAD-4.0.0 8.96879E-06
31855 49 T/I 66 rs1696674198 0.3851 None gnomAD-3.1.2 6.57E-06
31855 49 T/I 66 rs1696674198 0.3851 None gnomAD-4.0.0 2.56253E-06
31856 50 R/C 67 rs72648261 0.2361 None gnomAD-2.1.1 2.14E-05
31856 50 R/C 67 rs72648261 0.2361 None gnomAD-3.1.2 3.94E-05
31856 50 R/C 67 rs72648261 0.2361 None gnomAD-4.0.0 1.30146E-05
31856 50 R/G 67 rs72648261 0.2361 None gnomAD-3.1.2 6.57E-06
31856 50 R/G 67 rs72648261 0.2361 None gnomAD-4.0.0 1.23949E-06
31856 50 R/H 67 rs876658093 0.2361 None gnomAD-2.1.1 1.21E-05
31856 50 R/H 67 rs876658093 0.2361 None gnomAD-4.0.0 1.43691E-05
31856 50 R/L 67 None 0.2361 None gnomAD-4.0.0 6.84244E-07
31856 50 R/P 67 None 0.2361 None gnomAD-4.0.0 1.36849E-06
31856 50 R/S 67 None 0.2361 None gnomAD-2.1.1 4.02E-06
31857 51 V/A 68 rs1696670937 0.1937 None gnomAD-3.1.2 6.57E-06
31857 51 V/A 68 rs1696670937 0.1937 None gnomAD-4.0.0 3.8438E-06
31857 51 V/I 68 None 0.1937 None gnomAD-4.0.0 1.59146E-06
31858 52 N/S 69 rs771395028 0.1251 None gnomAD-2.1.1 4.02E-05
31858 52 N/S 69 rs771395028 0.1251 None gnomAD-3.1.2 3.29E-05
31858 52 N/S 69 rs771395028 0.1251 None gnomAD-4.0.0 1.85912E-05
31860 54 D/E 72 None 0.8725 None gnomAD-4.0.0 6.84255E-07
31861 55 Y/C 73 rs59148238 0.3805 None gnomAD-2.1.1 2.8891E-04
31861 55 Y/C 73 rs59148238 0.3805 None gnomAD-3.1.2 8.28152E-04
31861 55 Y/C 73 rs59148238 0.3805 None 1000 genomes 1.19808E-03
31861 55 Y/C 73 rs59148238 0.3805 None gnomAD-4.0.0 1.87768E-04
31862 56 V/A 75 None 0.3475 None gnomAD-4.0.0 1.20032E-06
31863 57 V/A 77 None 0.1210 None gnomAD-4.0.0 1.20032E-06
31863 57 V/L 77 None 0.1210 None gnomAD-4.0.0 1.59153E-06
31863 57 V/M 77 rs1261237419 0.1210 None gnomAD-2.1.1 4.02E-06
31864 58 Y/C 83 None 0.6397 None gnomAD-4.0.0 5.47409E-06
31864 58 Y/F 83 None 0.6397 None gnomAD-4.0.0 6.84261E-07
31864 58 Y/H 83 None 0.6397 None gnomAD-4.0.0 3.18308E-06
31865 59 D/A 88 None 0.5761 None gnomAD-4.0.0 1.59155E-06
31865 59 D/E 88 rs745843064 0.5761 None gnomAD-2.1.1 4.02E-06
31865 59 D/H 88 rs1696661402 0.5761 None gnomAD-3.1.2 6.57E-06
31865 59 D/H 88 rs1696661402 0.5761 None gnomAD-4.0.0 3.84385E-06
31866 60 T/A 89 rs1559138864 0.1449 None gnomAD-2.1.1 4.02E-06
31866 60 T/A 89 rs1559138864 0.1449 None gnomAD-4.0.0 3.1831E-06
31867 61 R/G 90 rs778708400 0.4456 None gnomAD-4.0.0 3.42136E-06
31867 61 R/S 90 None 0.4456 None gnomAD-4.0.0 2.40064E-06
31868 62 L/M 91 None 0.1881 None gnomAD-4.0.0 1.20032E-06
31868 62 L/Q 91 rs1559138758 0.1881 None gnomAD-2.1.1 4.02E-06
31868 62 L/Q 91 rs1559138758 0.1881 None gnomAD-4.0.0 1.59163E-06
31872 66 S/G 96 None 0.6828 None gnomAD-4.0.0 1.59171E-06
31872 66 S/R 96 rs757129504 0.6828 None gnomAD-2.1.1 1.61E-05
31872 66 S/R 96 rs757129504 0.6828 None gnomAD-3.1.2 1.31E-05
31872 66 S/R 96 rs757129504 0.6828 None gnomAD-4.0.0 6.01193E-05
31872 66 S/T 96 rs1696652076 0.6828 None gnomAD-3.1.2 6.57E-06
31872 66 S/T 96 rs1696652076 0.6828 None gnomAD-4.0.0 6.57168E-06
31873 67 L/M 97 rs748974241 0.0948 None gnomAD-2.1.1 8.04E-06
31873 67 L/M 97 rs748974241 0.0948 None gnomAD-4.0.0 1.59174E-06
31873 67 L/R 97 rs778060662 0.0948 None gnomAD-2.1.1 2.01E-05
31873 67 L/R 97 rs778060662 0.0948 None gnomAD-3.1.2 1.31E-05
31873 67 L/R 97 rs778060662 0.0948 None gnomAD-4.0.0 1.23955E-05
31874 68 M/R 98 rs1405952396 0.4772 None gnomAD-2.1.1 4.02E-06
31874 68 M/T 98 None 0.4772 None gnomAD-4.0.0 1.59179E-06
31875 69 E/K 99 rs371534086 0.4271 None gnomAD-3.1.2 6.57E-06
31875 69 E/K 99 rs371534086 0.4271 None gnomAD-4.0.0 1.85935E-06
31877 71 C/Y 102 rs1335546534 0.2149 None gnomAD-2.1.1 3.19E-05
31877 71 C/Y 102 rs1335546534 0.2149 None gnomAD-3.1.2 6.57E-06
31877 71 C/Y 102 rs1335546534 0.2149 None gnomAD-4.0.0 6.57142E-06
31878 72 D/N 103 rs752844593 0.2598 None gnomAD-2.1.1 1.21E-05
31878 72 D/N 103 rs752844593 0.2598 None gnomAD-4.0.0 3.62726E-05
31881 75 F/I 106 None 0.1138 None gnomAD-4.0.0 1.20032E-06
31881 75 F/L 106 rs1157557986 0.1138 None gnomAD-2.1.1 4.03E-06
31881 75 F/L 106 rs1157557986 0.1138 None gnomAD-4.0.0 1.20032E-06
31882 76 R/Q 107 rs767746607 0.1960 None gnomAD-2.1.1 1.79E-05
31882 76 R/Q 107 rs767746607 0.1960 None gnomAD-3.1.2 1.31E-05
31882 76 R/Q 107 rs767746607 0.1960 None gnomAD-4.0.0 7.44054E-06
31882 76 R/W 107 rs745999245 0.1960 None gnomAD-2.1.1 4.03E-06
31882 76 R/W 107 rs745999245 0.1960 None gnomAD-4.0.0 9.58388E-06
31883 77 V/M 108 rs72648262 0.0769 None gnomAD-2.1.1 1.61E-05
31883 77 V/M 108 rs72648262 0.0769 None gnomAD-3.1.2 3.29E-05
31883 77 V/M 108 rs72648262 0.0769 None gnomAD-4.0.0 2.43639E-05
31884 78 T/I 109 rs977811552 0.1254 None gnomAD-2.1.1 8.07E-06
31884 78 T/I 109 rs977811552 0.1254 None gnomAD-4.0.0 6.38457E-06
31885 79 A/S 110 rs72648263 0.0759 None gnomAD-2.1.1 4.04E-06
31885 79 A/S 110 rs72648263 0.0759 None gnomAD-3.1.2 1.31E-05
31885 79 A/S 110 rs72648263 0.0759 None gnomAD-4.0.0 1.862E-06
31885 79 A/T 110 rs72648263 0.0759 None gnomAD-2.1.1 6.92029E-04
31885 79 A/T 110 rs72648263 0.0759 None gnomAD-3.1.2 6.37504E-04
31885 79 A/T 110 rs72648263 0.0759 None gnomAD-4.0.0 1.00292E-03
31885 79 A/V 110 rs1307812044 0.0759 None gnomAD-3.1.2 6.57E-06
31885 79 A/V 110 rs1307812044 0.0759 None gnomAD-4.0.0 6.20499E-06
31887 81 N/I 112 None 0.1262 None gnomAD-4.0.0 1.20032E-06
31889 83 A/T 114 rs1025105445 0.5425 None gnomAD-3.1.2 1.31E-05
31889 83 A/T 114 rs1025105445 0.5425 None gnomAD-4.0.0 3.04476E-06
31890 84 G/V 115 rs763832653 0.2084 None gnomAD-2.1.1 1.22E-05
31890 84 G/V 115 rs763832653 0.2084 None gnomAD-3.1.2 6.57E-06
31890 84 G/V 115 rs763832653 0.2084 None gnomAD-4.0.0 2.57948E-06
31891 85 N/D 117 rs1351753792 0.5393 None gnomAD-2.1.1 8.1E-06
31891 85 N/D 117 rs1351753792 0.5393 None gnomAD-3.1.2 6.57E-06
31891 85 N/D 117 rs1351753792 0.5393 None gnomAD-4.0.0 6.57039E-06
31892 86 S/G 118 None 0.0885 None gnomAD-4.0.0 3.60097E-06
31892 86 S/I 118 rs186675165 0.0885 None gnomAD-2.1.1 4.06E-06
31892 86 S/I 118 rs186675165 0.0885 None gnomAD-3.1.2 6.57E-06
31892 86 S/I 118 rs186675165 0.0885 None 1000 genomes 1.99681E-04
31892 86 S/I 118 rs186675165 0.0885 None gnomAD-4.0.0 2.02959E-06
31893 87 E/K 119 rs1241275942 0.6098 None gnomAD-2.1.1 4.07E-06
31893 87 E/K 119 rs1241275942 0.6098 None gnomAD-4.0.0 3.23073E-06
31895 89 S/G 121 rs775090787 0.1236 None gnomAD-2.1.1 8.2E-06
31895 89 S/G 121 rs775090787 0.1236 None gnomAD-3.1.2 6.57E-06
31895 89 S/G 121 rs775090787 0.1236 None gnomAD-4.0.0 2.49938E-06
31895 89 S/R 121 rs771633297 0.1236 None gnomAD-2.1.1 4.11E-06
31895 89 S/R 121 rs771633297 0.1236 None gnomAD-4.0.0 4.147E-06
31896 90 E/K 122 rs745365163 0.8125 None gnomAD-2.1.1 5.12E-05
31896 90 E/K 122 rs745365163 0.8125 None gnomAD-3.1.2 1.31E-05
31896 90 E/K 122 rs745365163 0.8125 None gnomAD-4.0.0 1.68914E-05
31896 90 E/V 122 rs774355988 0.8125 None gnomAD-2.1.1 5.37E-05
31896 90 E/V 122 rs774355988 0.8125 None gnomAD-4.0.0 2.00499E-05
31897 91 A/T 123 rs2555815 0.2556 None gnomAD-3.1.2 6.57E-06
31897 91 A/T 123 rs2555815 0.2556 None gnomAD-4.0.0 2.63723E-06
31899 93 N/S 125 None 0.9316 None gnomAD-4.0.0 1.20032E-06
31902 96 S/L 129 rs770705757 0.3029 None gnomAD-2.1.1 8.65E-06
31902 96 S/L 129 rs770705757 0.3029 None gnomAD-4.0.0 1.05005E-05
31903 97 C/F 130 rs1417379558 0.0704 None gnomAD-2.1.1 4.37E-06
31903 97 C/F 130 rs1417379558 0.0704 None gnomAD-4.0.0 3.37457E-06
31903 97 C/R 130 None 0.0704 None gnomAD-4.0.0 1.20032E-06
31905 99 E/Q 132 rs777381153 0.5242 None gnomAD-2.1.1 4.5E-06
31905 99 E/Q 132 rs777381153 0.5242 None gnomAD-4.0.0 2.11808E-06