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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16852 1 P/L 1 None 0.3284 None gnomAD-4.0.0 1.20032E-06
16852 1 P/S 1 rs752660748 0.3284 None gnomAD-2.1.1 1.21E-05
16852 1 P/S 1 rs752660748 0.3284 None gnomAD-3.1.2 6.58E-06
16852 1 P/S 1 rs752660748 0.3284 None gnomAD-4.0.0 2.97685E-05
16852 1 P/T 1 rs752660748 0.3284 None gnomAD-3.1.2 6.58E-06
16852 1 P/T 1 rs752660748 0.3284 None gnomAD-4.0.0 6.57981E-06
16853 2 P/L 2 rs373517736 0.1083 None gnomAD-4.0.0 1.20032E-06
16854 3 S/L 3 None 0.1768 None gnomAD-4.0.0 3.18705E-06
16855 4 P/L 4 rs767521432 0.2705 None gnomAD-2.1.1 4.04E-06
16855 4 P/L 4 rs767521432 0.2705 None gnomAD-4.0.0 6.84628E-07
16855 4 P/R 4 None 0.2705 None gnomAD-4.0.0 1.36926E-06
16855 4 P/S 4 None 0.2705 None gnomAD-4.0.0 1.59346E-06
16856 5 P/H 5 rs2056345177 0.1144 None gnomAD-4.0.0 6.00161E-06
16860 9 H/N 11 None 0.3841 None gnomAD-4.0.0 1.20032E-06
16860 9 H/R 11 rs2154199864 0.3841 None gnomAD-4.0.0 4.77897E-06
16863 12 D/H 14 rs1427198480 0.4764 None gnomAD-2.1.1 4.03E-06
16863 12 D/H 14 rs1427198480 0.4764 None gnomAD-4.0.0 1.59295E-06
16863 12 D/N 14 rs1427198480 0.4764 None gnomAD-3.1.2 6.58E-06
16863 12 D/N 14 rs1427198480 0.4764 None gnomAD-4.0.0 6.57765E-06
16865 14 G/R 16 rs1191765707 0.1829 None gnomAD-2.1.1 1.79E-05
16865 14 G/R 16 rs1191765707 0.1829 None gnomAD-3.1.2 3.29E-05
16865 14 G/R 16 rs1191765707 0.1829 None gnomAD-4.0.0 4.33964E-06
16865 14 G/W 16 None 0.1829 None gnomAD-4.0.0 1.36902E-06
16866 15 R/K 17 rs774137928 0.4721 None gnomAD-2.1.1 2.42E-05
16866 15 R/K 17 rs774137928 0.4721 None gnomAD-3.1.2 2.63E-05
16866 15 R/K 17 rs774137928 0.4721 None gnomAD-4.0.0 1.67395E-05
16867 16 K/E 18 None 0.8629 None gnomAD-4.0.0 1.20032E-06
16867 16 K/R 18 rs1206991896 0.8629 None gnomAD-2.1.1 4.03E-06
16867 16 K/R 18 rs1206991896 0.8629 None gnomAD-4.0.0 7.52944E-06
16869 18 I/F 20 None 0.1288 None gnomAD-4.0.0 1.20032E-06
16869 18 I/T 20 rs184856328 0.1288 None gnomAD-2.1.1 7.16E-06
16869 18 I/T 20 rs184856328 0.1288 None gnomAD-3.1.2 1.97E-05
16869 18 I/T 20 rs184856328 0.1288 None 1000 genomes 1.99681E-04
16869 18 I/T 20 rs184856328 0.1288 None gnomAD-4.0.0 6.08997E-06
16870 19 A/T 21 None 0.1292 None gnomAD-4.0.0 1.20032E-06
16871 20 I/V 22 rs763229497 0.1068 None gnomAD-2.1.1 4.03E-06
16871 20 I/V 22 rs763229497 0.1068 None gnomAD-4.0.0 1.59285E-06
16872 21 A/P 23 rs727503619 0.1629 None gnomAD-2.1.1 7.16E-06
16872 21 A/P 23 rs727503619 0.1629 None gnomAD-3.1.2 1.32E-05
16872 21 A/P 23 rs727503619 0.1629 None gnomAD-4.0.0 2.47996E-05
16872 21 A/V 23 rs748264576 0.1629 None gnomAD-2.1.1 4.03E-06
16872 21 A/V 23 rs748264576 0.1629 None gnomAD-4.0.0 1.59291E-06
16874 23 K/E 25 None 0.4659 None gnomAD-4.0.0 6.84504E-07
16874 23 K/T 25 None 0.4659 None gnomAD-4.0.0 3.60097E-06
16875 24 P/A 26 None 0.4204 None gnomAD-4.0.0 1.20032E-06
16875 24 P/L 26 rs776726020 0.4204 None gnomAD-2.1.1 4.03E-06
16875 24 P/L 26 rs776726020 0.4204 None gnomAD-4.0.0 1.5929E-06
16877 26 E/G 28 None 0.8273 None gnomAD-4.0.0 1.5929E-06
16877 26 E/Q 28 rs566364225 0.8273 None gnomAD-2.1.1 1.21E-05
16877 26 E/Q 28 rs566364225 0.8273 None gnomAD-3.1.2 6.58E-06
16877 26 E/Q 28 rs566364225 0.8273 None 1000 genomes 1.99681E-04
16877 26 E/Q 28 rs566364225 0.8273 None gnomAD-4.0.0 5.12873E-06
16878 27 K/E 29 None 0.7262 None gnomAD-4.0.0 2.40064E-06
16879 28 N/S 30 rs961819601 0.4691 None gnomAD-2.1.1 8.07E-06
16879 28 N/S 30 rs961819601 0.4691 None gnomAD-4.0.0 7.96511E-06
16880 29 G/D 31 None 0.1688 None gnomAD-4.0.0 1.36903E-06
16880 29 G/R 31 rs1310555030 0.1688 None gnomAD-3.1.2 6.58E-06
16880 29 G/R 31 rs1310555030 0.1688 None gnomAD-4.0.0 6.57834E-06
16881 30 G/A 32 rs201302681 0.4769 None gnomAD-2.1.1 1.71853E-04
16881 30 G/A 32 rs201302681 0.4769 None gnomAD-3.1.2 1.97E-05
16881 30 G/A 32 rs201302681 0.4769 None 1000 genomes 1.99681E-04
16881 30 G/A 32 rs201302681 0.4769 None gnomAD-4.0.0 3.28574E-05
16881 30 G/R 32 rs1559780843 0.4769 None gnomAD-2.1.1 4.03E-06
16881 30 G/R 32 rs1559780843 0.4769 None gnomAD-4.0.0 6.84508E-07
16882 31 S/R 33 None 0.1993 None gnomAD-4.0.0 1.59287E-06
16883 32 P/H 34 rs758756600 0.7395 None gnomAD-2.1.1 1.61E-05
16883 32 P/H 34 rs758756600 0.7395 None gnomAD-3.1.2 6.58E-06
16883 32 P/H 34 rs758756600 0.7395 None gnomAD-4.0.0 9.30027E-06
16883 32 P/L 34 rs758756600 0.7395 None gnomAD-3.1.2 6.58E-06
16883 32 P/L 34 rs758756600 0.7395 None gnomAD-4.0.0 6.58033E-06
16883 32 P/S 34 rs397517602 0.7395 None gnomAD-4.0.0 2.40064E-06
16884 33 I/V 35 rs748958858 0.2409 None gnomAD-2.1.1 1.61E-05
16884 33 I/V 35 rs748958858 0.2409 None gnomAD-3.1.2 6.58E-06
16884 33 I/V 35 rs748958858 0.2409 None gnomAD-4.0.0 1.15411E-05
16885 34 I/T 36 rs2056332746 0.4795 None gnomAD-4.0.0 2.40064E-06
16885 34 I/V 36 rs1405647586 0.4795 None gnomAD-2.1.1 4.03E-06
16885 34 I/V 36 rs1405647586 0.4795 None gnomAD-4.0.0 5.47609E-06
16886 35 G/A 37 rs1472760570 0.0879 None gnomAD-2.1.1 8.07E-06
16886 35 G/A 37 rs1472760570 0.0879 None gnomAD-4.0.0 3.18583E-06
16886 35 G/R 37 rs755860911 0.0879 None gnomAD-2.1.1 4.03E-06
16886 35 G/R 37 rs755860911 0.0879 None gnomAD-4.0.0 8.89877E-06
16886 35 G/V 37 rs1472760570 0.0879 None gnomAD-2.1.1 4.03E-06
16886 35 G/V 37 rs1472760570 0.0879 None gnomAD-4.0.0 1.59291E-06
16887 36 Y/H 38 rs1353291979 0.1158 None gnomAD-3.1.2 6.58E-06
16887 36 Y/H 38 rs1353291979 0.1158 None gnomAD-4.0.0 3.84715E-06
16888 37 H/R 39 None 0.2212 None gnomAD-4.0.0 1.20032E-06
16888 37 H/Y 39 None 0.2212 None gnomAD-4.0.0 1.20032E-06
16890 39 E/A 41 rs752204728 0.1459 None gnomAD-2.1.1 1.85649E-04
16890 39 E/A 41 rs752204728 0.1459 None gnomAD-3.1.2 2.63E-05
16890 39 E/A 41 rs752204728 0.1459 None gnomAD-4.0.0 7.30942E-05
16890 39 E/K 41 None 0.1459 None gnomAD-4.0.0 1.59284E-06
16891 40 M/I 42 rs767149312 0.1064 None gnomAD-2.1.1 7.17E-06
16891 40 M/I 42 rs767149312 0.1064 None gnomAD-3.1.2 1.32E-05
16891 40 M/I 42 rs767149312 0.1064 None gnomAD-4.0.0 3.84698E-06
16891 40 M/V 42 rs929462574 0.1064 None gnomAD-3.1.2 1.32E-05
16891 40 M/V 42 rs929462574 0.1064 None gnomAD-4.0.0 3.0453E-06
16892 41 C/F 43 rs958402858 0.0552 None gnomAD-3.1.2 6.58E-06
16892 41 C/F 43 rs958402858 0.0552 None gnomAD-4.0.0 6.57895E-06
16892 41 C/R 43 rs1256128085 0.0552 None gnomAD-2.1.1 1.21E-05
16892 41 C/R 43 rs1256128085 0.0552 None gnomAD-3.1.2 6.58E-06
16892 41 C/R 43 rs1256128085 0.0552 None gnomAD-4.0.0 2.16996E-05
16893 42 P/A 44 None 0.2304 None gnomAD-4.0.0 1.20032E-06
16894 43 V/A 50 rs1270525854 0.3337 None gnomAD-2.1.1 7.17E-06
16894 43 V/A 50 rs1270525854 0.3337 None gnomAD-3.1.2 6.58E-06
16894 43 V/A 50 rs1270525854 0.3337 None gnomAD-4.0.0 4.33989E-06
16894 43 V/I 50 rs754878640 0.3337 None gnomAD-2.1.1 7.17E-06
16894 43 V/I 50 rs754878640 0.3337 None gnomAD-3.1.2 6.58E-06
16894 43 V/I 50 rs754878640 0.3337 None gnomAD-4.0.0 1.23998E-06
16894 43 V/L 50 rs754878640 0.3337 None gnomAD-2.1.1 8.07E-06
16894 43 V/L 50 rs754878640 0.3337 None gnomAD-3.1.2 6.58E-06
16894 43 V/L 50 rs754878640 0.3337 None gnomAD-4.0.0 4.33992E-06
16896 45 T/A 60 None 0.3316 None gnomAD-4.0.0 2.05348E-06
16899 48 W/G 65 rs751513616 0.2964 None gnomAD-2.1.1 4.04E-06
16899 48 W/S 65 None 0.2964 None gnomAD-4.0.0 3.18567E-06
16900 49 M/I 66 None 0.3860 None gnomAD-4.0.0 6.84504E-07
16900 49 M/V 66 rs2056323047 0.3860 None gnomAD-3.1.2 6.58E-06
16900 49 M/V 66 rs2056323047 0.3860 None gnomAD-4.0.0 6.57929E-06
16901 50 R/G 67 rs1398055994 0.2856 None gnomAD-2.1.1 4.04E-06
16901 50 R/G 67 rs1398055994 0.2856 None gnomAD-3.1.2 6.58E-06
16901 50 R/G 67 rs1398055994 0.2856 None gnomAD-4.0.0 2.56472E-06
16904 53 S/P 70 None 0.7284 None gnomAD-4.0.0 1.20032E-06
16905 54 R/C 72 rs267599049 0.8143 None gnomAD-2.1.1 5.66E-05
16905 54 R/C 72 rs267599049 0.8143 None gnomAD-3.1.2 6.58E-06
16905 54 R/C 72 rs267599049 0.8143 None gnomAD-4.0.0 1.86013E-05
16905 54 R/H 72 rs191539637 0.8143 None gnomAD-2.1.1 4.70117E-04
16905 54 R/H 72 rs191539637 0.8143 None gnomAD-3.1.2 5.26794E-04
16905 54 R/H 72 rs191539637 0.8143 None 1000 genomes 3.99361E-04
16905 54 R/H 72 rs191539637 0.8143 None gnomAD-4.0.0 3.66426E-04
16905 54 R/P 72 rs191539637 0.8143 None gnomAD-2.1.1 4.04E-06
16905 54 R/P 72 rs191539637 0.8143 None gnomAD-4.0.0 1.36902E-06
16905 54 R/S 72 rs267599049 0.8143 None gnomAD-2.1.1 4.04E-06
16906 55 P/L 75 rs1451657059 0.2898 None gnomAD-2.1.1 4.04E-06
16906 55 P/L 75 rs1451657059 0.2898 None gnomAD-4.0.0 1.59294E-06
16906 55 P/Q 75 rs1451657059 0.2898 None gnomAD-3.1.2 6.58E-06
16906 55 P/Q 75 rs1451657059 0.2898 None gnomAD-4.0.0 6.58484E-06
16907 56 I/V 77 rs750610895 0.1606 None gnomAD-2.1.1 3.19324E-04
16907 56 I/V 77 rs750610895 0.1606 None gnomAD-3.1.2 2.36883E-04
16907 56 I/V 77 rs750610895 0.1606 None gnomAD-4.0.0 1.82283E-04
16909 58 D/E 88 None 0.7192 None gnomAD-4.0.0 1.59293E-06
16909 58 D/H 88 rs2056319066 0.7192 None gnomAD-3.1.2 6.58E-06
16909 58 D/H 88 rs2056319066 0.7192 None gnomAD-4.0.0 3.84757E-06
16910 59 L/S 89 rs1161195119 0.2627 None gnomAD-2.1.1 4.04E-06
16910 59 L/S 89 rs1161195119 0.2627 None gnomAD-4.0.0 1.59288E-06
16910 59 L/V 89 rs1559779803 0.2627 None gnomAD-3.1.2 6.58E-06
16910 59 L/V 89 rs1559779803 0.2627 None gnomAD-4.0.0 6.57505E-06
16911 60 K/R 90 None 0.7113 None gnomAD-4.0.0 1.59291E-06
16912 61 F/C 91 rs2056317849 0.2082 None gnomAD-4.0.0 3.42256E-06
16913 62 K/N 92 rs559219228 0.3385 None gnomAD-2.1.1 4.04E-06
16913 62 K/N 92 rs559219228 0.3385 None gnomAD-4.0.0 1.59292E-06
16913 62 K/Q 92 None 0.3385 None gnomAD-4.0.0 1.59296E-06
16915 64 E/K 94 None 0.5404 None gnomAD-4.0.0 1.20032E-06
16917 66 G/D 96 None 0.4575 None gnomAD-4.0.0 1.59294E-06
16918 67 V/A 97 rs765405714 0.1686 None gnomAD-2.1.1 4.04E-06
16918 67 V/A 97 rs765405714 0.1686 None gnomAD-4.0.0 1.59293E-06
16918 67 V/G 97 None 0.1686 None gnomAD-4.0.0 1.59293E-06
16919 68 V/A 98 rs757845759 0.3721 None gnomAD-4.0.0 3.60097E-06
16919 68 V/F 98 rs2056315018 0.3721 None gnomAD-4.0.0 1.36905E-06
16920 69 P/A 99 rs377289817 0.4048 None gnomAD-2.1.1 2.44079E-04
16920 69 P/A 99 rs377289817 0.4048 None gnomAD-3.1.2 5.85711E-04
16920 69 P/A 99 rs377289817 0.4048 None 1000 genomes 5.99042E-04
16920 69 P/A 99 rs377289817 0.4048 None gnomAD-4.0.0 1.00438E-04
16921 70 D/A 100 None 0.7388 None gnomAD-4.0.0 1.59299E-06
16921 70 D/E 100 None 0.7388 None gnomAD-4.0.0 6.37215E-06
16922 71 K/N 102 None 0.5152 None gnomAD-4.0.0 1.59303E-06
16922 71 K/Q 102 None 0.5152 None gnomAD-4.0.0 2.05359E-06
16922 71 K/T 102 rs1425233926 0.5152 None gnomAD-2.1.1 4.04E-06
16922 71 K/T 102 rs1425233926 0.5152 None gnomAD-4.0.0 1.36906E-06
16923 72 E/A 103 None 0.2899 None gnomAD-4.0.0 1.593E-06
16923 72 E/K 103 None 0.2899 None gnomAD-4.0.0 6.84537E-07
16924 73 Y/C 104 rs768626961 0.1062 None gnomAD-2.1.1 4.04E-06
16924 73 Y/C 104 rs768626961 0.1062 None gnomAD-4.0.0 1.59306E-06
16924 73 Y/F 104 rs768626961 0.1062 None gnomAD-2.1.1 4.04E-06
16924 73 Y/F 104 rs768626961 0.1062 None gnomAD-4.0.0 1.59306E-06
16925 74 V/A 105 rs370067597 0.1553 None gnomAD-2.1.1 4.66E-05
16925 74 V/A 105 rs370067597 0.1553 None gnomAD-3.1.2 8.55E-05
16925 74 V/A 105 rs370067597 0.1553 None gnomAD-4.0.0 1.72371E-04
16925 74 V/D 105 None 0.1553 None gnomAD-4.0.0 6.84546E-07
16925 74 V/L 105 rs752224973 0.1553 None gnomAD-2.1.1 8.09E-06
16925 74 V/L 105 rs752224973 0.1553 None gnomAD-3.1.2 6.58E-06
16925 74 V/L 105 rs752224973 0.1553 None gnomAD-4.0.0 1.36406E-05
16927 76 R/S 107 None 0.1103 None gnomAD-4.0.0 1.20033E-06
16928 77 V/A 108 rs772461854 0.0763 None gnomAD-2.1.1 1.62E-05
16928 77 V/A 108 rs772461854 0.0763 None gnomAD-3.1.2 1.32E-05
16928 77 V/A 108 rs772461854 0.0763 None gnomAD-4.0.0 4.96015E-06
16929 78 R/G 109 None 0.1501 None gnomAD-4.0.0 1.20032E-06
16929 78 R/T 109 rs1247385443 0.1501 None gnomAD-2.1.1 4.04E-06
16929 78 R/T 109 rs1247385443 0.1501 None gnomAD-4.0.0 4.77946E-06
16930 79 A/E 110 None 0.0710 None gnomAD-4.0.0 6.84564E-07
16930 79 A/V 110 None 0.0710 None gnomAD-4.0.0 1.36913E-06
16931 80 V/D 111 rs2056308510 0.1267 None gnomAD-3.1.2 1.97E-05
16931 80 V/D 111 rs2056308510 0.1267 None gnomAD-4.0.0 5.13007E-06
16931 80 V/I 111 None 0.1267 None gnomAD-4.0.0 6.84563E-07
16931 80 V/L 111 None 0.1267 None gnomAD-4.0.0 2.05369E-06
16932 81 N/S 112 rs779440152 0.0938 None gnomAD-3.1.2 1.32E-05
16932 81 N/S 112 rs779440152 0.0938 None gnomAD-4.0.0 1.17808E-05
16933 82 A/T 113 rs794729452 0.4953 None gnomAD-2.1.1 3.19E-05
16933 82 A/T 113 rs794729452 0.4953 None gnomAD-3.1.2 2.63E-05
16933 82 A/T 113 rs794729452 0.4953 None gnomAD-4.0.0 9.92066E-06
16934 83 I/T 114 rs769512213 0.4258 None gnomAD-2.1.1 1.62E-05
16934 83 I/T 114 rs769512213 0.4258 None gnomAD-4.0.0 7.5302E-06
16935 84 G/S 115 None 0.1829 None gnomAD-4.0.0 6.8457E-07
16935 84 G/V 115 rs2056305548 0.1829 None gnomAD-3.1.2 6.58E-06
16935 84 G/V 115 rs2056305548 0.1829 None gnomAD-4.0.0 6.57947E-06
16937 86 S/R 118 rs780845171 0.0757 None gnomAD-2.1.1 4.04E-06
16937 86 S/R 118 rs780845171 0.0757 None gnomAD-4.0.0 6.16119E-06
16938 87 E/D 119 rs779893350 0.5866 None gnomAD-2.1.1 4.04E-06
16938 87 E/D 119 rs779893350 0.5866 None gnomAD-4.0.0 1.59317E-06
16938 87 E/K 119 rs72677250 0.5866 None gnomAD-2.1.1 4.04E-06
16938 87 E/K 119 rs72677250 0.5866 None gnomAD-4.0.0 1.23223E-05
16938 87 E/Q 119 rs72677250 0.5866 None gnomAD-2.1.1 2.87E-05
16938 87 E/Q 119 rs72677250 0.5866 None gnomAD-3.1.2 2.63E-05
16938 87 E/Q 119 rs72677250 0.5866 None gnomAD-4.0.0 1.61216E-05
16939 88 P/L 120 rs1321289317 0.2363 None gnomAD-2.1.1 4.04E-06
16939 88 P/L 120 rs1321289317 0.2363 None gnomAD-4.0.0 2.40064E-06
16939 88 P/S 120 None 0.2363 None gnomAD-4.0.0 1.20032E-06
16940 89 S/P 121 None 0.1351 None gnomAD-4.0.0 1.20032E-06
16944 93 E/G 125 rs758389457 0.3708 None gnomAD-2.1.1 4.04E-06
16944 93 E/G 125 rs758389457 0.3708 None gnomAD-4.0.0 1.59333E-06
16945 94 N/H 126 None 0.5361 None gnomAD-4.0.0 2.40064E-06
16945 94 N/S 126 rs1261279387 0.5361 None gnomAD-3.1.2 6.58E-06
16945 94 N/S 126 rs1261279387 0.5361 None gnomAD-4.0.0 2.56544E-06
16946 95 V/A 127 rs1179860102 0.2007 None gnomAD-3.1.2 1.32E-05
16946 95 V/A 127 rs1179860102 0.2007 None gnomAD-4.0.0 2.48026E-06
16946 95 V/M 127 None 0.2007 None gnomAD-4.0.0 1.20032E-06
16947 96 V/L 129 rs765033370 0.3346 None gnomAD-2.1.1 1.21E-05
16947 96 V/L 129 rs765033370 0.3346 None gnomAD-4.0.0 4.78022E-06
16948 97 A/T 130 rs1460058414 0.0975 None gnomAD-2.1.1 3.19E-05
16948 97 A/T 130 rs1460058414 0.0975 None gnomAD-3.1.2 6.58E-06
16948 97 A/T 130 rs1460058414 0.0975 None gnomAD-4.0.0 5.13144E-06
16949 98 K/E 131 rs1368701506 0.5945 None gnomAD-2.1.1 4.04E-06
16949 98 K/E 131 rs1368701506 0.5945 None gnomAD-4.0.0 1.59344E-06
16950 99 D/E 132 rs200700386 0.6123 None gnomAD-2.1.1 6.45E-05
16950 99 D/E 132 rs200700386 0.6123 None gnomAD-3.1.2 1.84244E-04
16950 99 D/E 132 rs200700386 0.6123 None 1000 genomes 3.99361E-04
16950 99 D/E 132 rs200700386 0.6123 None gnomAD-4.0.0 3.65839E-05
16950 99 D/N 132 None 0.6123 None gnomAD-4.0.0 3.42312E-06