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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
4795 1 P/A 1 rs2081388960 0.1718 None gnomAD-3.1.2 6.57E-06
4795 1 P/A 1 rs2081388960 0.1718 None gnomAD-4.0.0 6.57246E-06
4795 1 P/T 1 None 0.1718 None gnomAD-4.0.0 7.00594E-07
4796 2 T/A 2 rs780971372 0.5170 None gnomAD-2.1.1 1.8E-05
4796 2 T/A 2 rs780971372 0.5170 None gnomAD-4.0.0 1.67824E-05
4797 3 F/C 3 None 0.1345 None gnomAD-4.0.0 6.95456E-07
4798 4 L/F 4 rs2081388048 0.6314 None gnomAD-4.0.0 1.65128E-06
4798 4 L/P 4 None 0.6314 None gnomAD-4.0.0 1.20032E-06
4800 6 R/S 7 rs751522505 0.3889 None gnomAD-2.1.1 4.23E-06
4801 7 P/L 8 rs780021536 0.1952 None gnomAD-2.1.1 4.22E-06
4801 7 P/L 8 rs780021536 0.1952 None gnomAD-3.1.2 6.57E-06
4801 7 P/L 8 rs780021536 0.1952 None gnomAD-4.0.0 6.57289E-06
4801 7 P/T 8 None 0.1952 None gnomAD-4.0.0 1.63352E-06
4803 9 S/C 11 None 0.4187 None gnomAD-4.0.0 6.87705E-07
4803 9 S/F 11 rs774228049 0.4187 None gnomAD-2.1.1 4.11E-06
4803 9 S/F 11 rs774228049 0.4187 None gnomAD-4.0.0 1.10033E-05
4803 9 S/Y 11 None 0.4187 None gnomAD-4.0.0 6.87705E-07
4805 11 T/I 14 rs2081384846 0.4118 None gnomAD-3.1.2 6.57E-06
4805 11 T/I 14 rs2081384846 0.4118 None gnomAD-4.0.0 6.57047E-06
4805 11 T/K 14 None 0.4118 None gnomAD-4.0.0 1.20032E-06
4805 11 T/P 14 rs1176268416 0.4118 None gnomAD-2.1.1 8.15E-06
4805 11 T/P 14 rs1176268416 0.4118 None gnomAD-4.0.0 3.202E-06
4806 12 T/A 16 rs2081384233 0.1667 None gnomAD-3.1.2 6.57E-06
4806 12 T/A 16 rs2081384233 0.1667 None gnomAD-4.0.0 6.57479E-06
4806 12 T/I 16 None 0.1667 None gnomAD-4.0.0 1.20032E-06
4808 14 V/M 23 None 0.2844 None gnomAD-4.0.0 1.59814E-06
4809 15 G/D 24 rs757553783 0.3071 None gnomAD-2.1.1 4.05E-06
4809 15 G/D 24 rs757553783 0.3071 None gnomAD-4.0.0 3.42589E-06
4809 15 G/S 24 rs371784232 0.3071 None gnomAD-2.1.1 1.8E-05
4809 15 G/S 24 rs371784232 0.3071 None gnomAD-3.1.2 1.97E-05
4809 15 G/S 24 rs371784232 0.3071 None gnomAD-4.0.0 1.30318E-05
4810 16 K/Q 25 rs367630668 0.2812 None gnomAD-2.1.1 6.82E-05
4810 16 K/Q 25 rs367630668 0.2812 None gnomAD-3.1.2 3.94E-05
4810 16 K/Q 25 rs367630668 0.2812 None gnomAD-4.0.0 1.67492E-05
4810 16 K/R 25 rs375443901 0.2812 None gnomAD-2.1.1 4.04E-06
4810 16 K/R 25 rs375443901 0.2812 None gnomAD-3.1.2 2.63E-05
4810 16 K/R 25 rs375443901 0.2812 None gnomAD-4.0.0 7.70323E-06
4811 17 A/S 26 rs761096621 0.4302 None gnomAD-3.1.2 6.57E-06
4811 17 A/S 26 rs761096621 0.4302 None gnomAD-4.0.0 6.57186E-06
4811 17 A/T 26 rs761096621 0.4302 None gnomAD-2.1.1 4.04E-06
4811 17 A/T 26 rs761096621 0.4302 None gnomAD-4.0.0 2.74008E-06
4812 18 A/D 28 None 0.1593 None gnomAD-4.0.0 1.59375E-06
4812 18 A/V 28 None 0.1593 None gnomAD-4.0.0 1.59375E-06
4813 19 K/Q 29 None 0.3986 None gnomAD-4.0.0 1.20032E-06
4813 19 K/R 29 None 0.3986 None gnomAD-4.0.0 1.5934E-06
4814 20 F/C 30 rs2081380830 0.1212 None gnomAD-4.0.0 1.36904E-06
4814 20 F/S 30 None 0.1212 None gnomAD-4.0.0 6.84519E-07
4815 21 I/F 31 rs1284454958 0.4086 None gnomAD-2.1.1 4.03E-06
4816 22 C/W 33 rs2154314532 0.0807 None gnomAD-3.1.2 6.57E-06
4816 22 C/W 33 rs2154314532 0.0807 None gnomAD-4.0.0 4.05918E-06
4817 23 T/I 34 rs1299461448 0.1847 None gnomAD-2.1.1 3.18E-05
4817 23 T/I 34 rs1299461448 0.1847 None gnomAD-3.1.2 6.57E-06
4817 23 T/I 34 rs1299461448 0.1847 None gnomAD-4.0.0 2.56314E-06
4819 25 T/A 38 rs895286829 0.4011 None gnomAD-4.0.0 1.59144E-06
4820 26 G/E 40 rs376364888 0.3190 None gnomAD-2.1.1 1.78E-05
4820 26 G/E 40 rs376364888 0.3190 None gnomAD-3.1.2 1.97E-05
4820 26 G/E 40 rs376364888 0.3190 None gnomAD-4.0.0 1.30145E-05
4820 26 G/R 40 rs1247947470 0.3190 None gnomAD-3.1.2 6.57E-06
4820 26 G/R 40 rs1247947470 0.3190 None gnomAD-4.0.0 2.73695E-06
4821 27 T/I 41 rs1358712791 0.4737 None gnomAD-3.1.2 6.57E-06
4821 27 T/I 41 rs1358712791 0.4737 None gnomAD-4.0.0 6.57013E-06
4822 28 P/L 42 rs1381535545 0.6323 None gnomAD-2.1.1 4.02E-06
4822 28 P/L 42 rs1381535545 0.6323 None gnomAD-4.0.0 4.10534E-06
4822 28 P/S 42 rs762428750 0.6323 None gnomAD-2.1.1 2.81E-05
4822 28 P/S 42 rs762428750 0.6323 None gnomAD-3.1.2 1.31E-05
4822 28 P/S 42 rs762428750 0.6323 None gnomAD-4.0.0 1.11547E-05
4823 29 V/M 43 None 0.8288 None gnomAD-4.0.0 1.59138E-06
4824 30 I/T 44 None 0.2063 None gnomAD-4.0.0 1.20032E-06
4824 30 I/V 44 rs772792515 0.2063 None gnomAD-2.1.1 4.02E-06
4824 30 I/V 44 rs772792515 0.2063 None gnomAD-4.0.0 1.5913E-06
4825 31 E/A 45 rs769228664 0.7348 None gnomAD-2.1.1 4.02E-06
4825 31 E/A 45 rs769228664 0.7348 None gnomAD-4.0.0 6.8421E-07
4825 31 E/V 45 None 0.7348 None gnomAD-4.0.0 2.05263E-06
4826 32 T/A 46 rs1156737017 0.3856 None gnomAD-2.1.1 4.02E-06
4826 32 T/A 46 rs1156737017 0.3856 None gnomAD-4.0.0 1.59125E-06
4826 32 T/N 46 None 0.3856 None gnomAD-4.0.0 1.59124E-06
4827 33 I/N 47 None 0.6266 None gnomAD-4.0.0 6.84205E-07
4827 33 I/T 47 None 0.6266 None gnomAD-4.0.0 6.84205E-07
4828 34 W/S 48 rs747830811 0.1595 None gnomAD-2.1.1 4.02E-06
4829 35 Q/K 49 rs748930233 0.2453 None gnomAD-2.1.1 4.02E-06
4829 35 Q/K 49 rs748930233 0.2453 None gnomAD-3.1.2 6.57E-06
4829 35 Q/K 49 rs748930233 0.2453 None gnomAD-4.0.0 2.10698E-05
4829 35 Q/P 49 rs375177753 0.2453 None gnomAD-2.1.1 1.21299E-04
4829 35 Q/P 49 rs375177753 0.2453 None gnomAD-3.1.2 1.70839E-04
4829 35 Q/P 49 rs375177753 0.2453 None gnomAD-4.0.0 1.9086E-04
4831 37 D/G 51 rs1257773327 0.5224 None gnomAD-2.1.1 4.02E-06
4831 37 D/G 51 rs1257773327 0.5224 None gnomAD-4.0.0 1.5912E-06
4831 37 D/N 51 None 0.5224 None gnomAD-4.0.0 1.59123E-06
4831 37 D/Y 51 rs768490595 0.5224 None gnomAD-2.1.1 8.04E-06
4831 37 D/Y 51 rs768490595 0.5224 None gnomAD-3.1.2 6.57E-06
4831 37 D/Y 51 rs768490595 0.5224 None gnomAD-4.0.0 1.40915E-05
4832 38 G/D 52 rs1485727928 0.4411 None gnomAD-2.1.1 1.07E-05
4832 38 G/D 52 rs1485727928 0.4411 None gnomAD-3.1.2 6.57E-06
4832 38 G/D 52 rs1485727928 0.4411 None gnomAD-4.0.0 5.12409E-06
4833 39 A/T 55 rs1366438638 0.4051 None gnomAD-2.1.1 3.19E-05
4833 39 A/T 55 rs1366438638 0.4051 None gnomAD-3.1.2 6.57E-06
4833 39 A/T 55 rs1366438638 0.4051 None gnomAD-4.0.0 6.5716E-06
4833 39 A/V 55 rs1284562529 0.4051 None gnomAD-2.1.1 4.02E-06
4833 39 A/V 55 rs1284562529 0.4051 None gnomAD-4.0.0 2.05259E-06
4834 40 A/S 56 rs746792103 0.4627 None gnomAD-2.1.1 4.02E-06
4834 40 A/S 56 rs746792103 0.4627 None gnomAD-4.0.0 1.36839E-06
4834 40 A/T 56 None 0.4627 None gnomAD-4.0.0 6.84197E-07
4835 41 L/R 58 None 0.1983 None gnomAD-4.0.0 1.59113E-06
4836 42 S/P 59 None 0.5345 None gnomAD-4.0.0 1.59116E-06
4836 42 S/T 59 None 0.5345 None gnomAD-4.0.0 1.59116E-06
4837 43 P/H 70 rs1291141509 0.9167 None gnomAD-2.1.1 8.03E-06
4837 43 P/H 70 rs1291141509 0.9167 None gnomAD-4.0.0 1.36837E-06
4837 43 P/L 70 None 0.9167 None gnomAD-4.0.0 3.42094E-06
4838 44 S/L 73 rs758347900 0.1790 None gnomAD-2.1.1 4.02E-06
4838 44 S/L 73 rs758347900 0.1790 None gnomAD-4.0.0 4.77339E-06
4839 45 P/H 111 rs1478089830 0.7342 None gnomAD-2.1.1 3.19E-05
4839 45 P/H 111 rs1478089830 0.7342 None gnomAD-3.1.2 1.31E-05
4839 45 P/H 111 rs1478089830 0.7342 None gnomAD-4.0.0 1.31439E-05
4839 45 P/T 111 None 0.7342 None gnomAD-4.0.0 1.59113E-06
4840 46 N/H 115 rs199997460 0.5846 None gnomAD-2.1.1 7.85E-05
4840 46 N/H 115 rs199997460 0.5846 None gnomAD-3.1.2 7.89E-05
4840 46 N/H 115 rs199997460 0.5846 None gnomAD-4.0.0 1.25175E-04
4840 46 N/K 115 rs1162232624 0.5846 None gnomAD-4.0.0 1.59111E-06
4840 46 N/T 115 rs779078589 0.5846 None gnomAD-2.1.1 1.43E-05
4840 46 N/T 115 rs779078589 0.5846 None gnomAD-3.1.2 6.57E-06
4840 46 N/T 115 rs779078589 0.5846 None gnomAD-4.0.0 2.56203E-06
4841 47 W/R 121 rs2081362230 0.3013 None gnomAD-4.0.0 1.36836E-06
4842 48 R/G 122 rs1347409697 0.7355 None gnomAD-3.1.2 1.31E-05
4842 48 R/G 122 rs1347409697 0.7355 None gnomAD-4.0.0 5.1235E-06
4842 48 R/K 122 rs2742347 0.7355 None gnomAD-2.1.1 1.00529E-01
4842 48 R/K 122 rs2742347 0.7355 None gnomAD-3.1.2 1.11237E-01
4842 48 R/K 122 rs2742347 0.7355 None 1000 genomes 1.44768E-01
4842 48 R/K 122 rs2742347 0.7355 None gnomAD-4.0.0 6.69259E-02
4843 49 I/T 123 rs1401764178 0.4083 None gnomAD-2.1.1 8.03E-06
4843 49 I/T 123 rs1401764178 0.4083 None gnomAD-4.0.0 4.77327E-06
4845 51 D/N 127 rs373378672 0.8576 None gnomAD-2.1.1 1.4269E-04
4845 51 D/N 127 rs373378672 0.8576 None gnomAD-3.1.2 1.64296E-04
4845 51 D/N 127 rs373378672 0.8576 None gnomAD-4.0.0 1.10913E-04
4846 52 A/S 130 rs752150323 0.4376 None gnomAD-2.1.1 4.02E-06
4846 52 A/T 130 rs752150323 0.4376 None gnomAD-2.1.1 3.57E-05
4846 52 A/T 130 rs752150323 0.4376 None gnomAD-3.1.2 1.97E-05
4846 52 A/T 130 rs752150323 0.4376 None gnomAD-4.0.0 3.71814E-05
4850 56 H/L 136 rs760092355 0.2626 None gnomAD-2.1.1 4.02E-06
4850 56 H/L 136 rs760092355 0.2626 None gnomAD-4.0.0 2.73675E-06
4850 56 H/R 136 None 0.2626 None gnomAD-4.0.0 1.36838E-06
4850 56 H/Y 136 None 0.2626 None gnomAD-4.0.0 1.20032E-06
4851 57 I/S 137 None 0.1937 None gnomAD-4.0.0 1.59117E-06
4851 57 I/V 137 rs1286288159 0.1937 None gnomAD-3.1.2 1.31E-05
4851 57 I/V 137 rs1286288159 0.1937 None gnomAD-4.0.0 4.05984E-06
4853 59 E/A 139 rs1264041107 0.3702 None gnomAD-3.1.2 6.57E-06
4853 59 E/A 139 rs1264041107 0.3702 None gnomAD-4.0.0 6.57099E-06
4853 59 E/Q 139 None 0.3702 None gnomAD-4.0.0 1.59118E-06
4854 60 L/F 140 rs1196213888 0.1336 None gnomAD-2.1.1 4.02E-06
4854 60 L/F 140 rs1196213888 0.1336 None gnomAD-3.1.2 2.63E-05
4854 60 L/F 140 rs1196213888 0.1336 DCM
Literature None
4854 60 L/F 140 rs1196213888 0.1336 None gnomAD-4.0.0 7.68582E-06
4855 61 S/L 141 None 0.4684 None gnomAD-4.0.0 2.40065E-06
4856 62 N/K 143 None 0.7675 None gnomAD-4.0.0 1.59115E-06
4856 62 N/S 143 None 0.7675 None gnomAD-4.0.0 1.20033E-06
4857 63 L/F 144 None 0.1159 None gnomAD-4.0.0 2.05257E-06
4857 63 L/I 144 None 0.1159 None gnomAD-4.0.0 1.36838E-06
4857 63 L/R 144 rs1267218460 0.1159 None gnomAD-2.1.1 4.02E-06
4857 63 L/R 144 rs1267218460 0.1159 None gnomAD-4.0.0 3.18227E-06
4858 64 T/S 145 rs2081354978 0.3765 None gnomAD-4.0.0 1.59116E-06
4860 66 Q/K 148 None 0.8543 None gnomAD-4.0.0 6.84193E-07
4861 67 D/G 149 rs566100734 0.2337 None gnomAD-4.0.0 1.59119E-06
4861 67 D/V 149 rs566100734 0.2337 None gnomAD-2.1.1 4.64E-05
4861 67 D/V 149 rs566100734 0.2337 None gnomAD-3.1.2 6.57E-06
4861 67 D/V 149 rs566100734 0.2337 None gnomAD-4.0.0 3.45855E-05
4862 68 R/G 151 rs952359009 0.5740 None gnomAD-2.1.1 4.02E-06
4862 68 R/G 151 rs952359009 0.5740 None gnomAD-3.1.2 1.97E-05
4862 68 R/G 151 rs952359009 0.5740 None gnomAD-4.0.0 1.97075E-05
4862 68 R/S 151 rs1260217446 0.5740 None gnomAD-4.0.0 1.59123E-06
4862 68 R/T 151 None 0.5740 None gnomAD-4.0.0 1.59123E-06
4863 69 G/E 152 rs375680312 0.1510 None gnomAD-2.1.1 2.41E-05
4863 69 G/E 152 rs375680312 0.1510 None gnomAD-3.1.2 2.63E-05
4863 69 G/E 152 rs375680312 0.1510 None gnomAD-4.0.0 3.47031E-05
4863 69 G/R 152 None 0.1510 None gnomAD-4.0.0 2.05264E-06
4865 71 Y/C 154 None 0.1145 None gnomAD-4.0.0 2.05263E-06
4865 71 Y/N 154 None 0.1145 None gnomAD-4.0.0 2.05265E-06
4866 72 S/F 155 rs1226951123 0.1646 None gnomAD-2.1.1 8.04E-06
4866 72 S/F 155 rs1226951123 0.1646 None gnomAD-4.0.0 3.18256E-06
4866 72 S/Y 155 None 0.1646 None gnomAD-4.0.0 1.59128E-06
4867 73 C/F 156 rs2081352465 0.0711 None gnomAD-4.0.0 3.18258E-06
4868 74 K/E 157 rs1276077770 0.5401 None gnomAD-2.1.1 4.02E-06
4868 74 K/E 157 rs1276077770 0.5401 None gnomAD-4.0.0 1.5913E-06
4868 74 K/R 157 None 0.5401 None gnomAD-4.0.0 2.40067E-06
4869 75 A/P 158 rs768296194 0.1043 None gnomAD-2.1.1 4.02E-06
4869 75 A/P 158 rs768296194 0.1043 None gnomAD-4.0.0 2.05268E-06
4869 75 A/S 158 rs768296194 0.1043 None gnomAD-3.1.2 6.57E-06
4869 75 A/S 158 rs768296194 0.1043 None gnomAD-4.0.0 1.85913E-06
4870 76 S/F 159 None 0.2898 None gnomAD-4.0.0 1.59142E-06
4871 77 N/K 161 rs1182104962 0.1658 None gnomAD-2.1.1 4.02E-06
4871 77 N/K 161 rs1182104962 0.1658 None gnomAD-3.1.2 6.57E-06
4871 77 N/K 161 rs1182104962 0.1658 None gnomAD-4.0.0 6.57229E-06
4872 78 K/E 162 None 0.5618 None gnomAD-4.0.0 1.59145E-06
4872 78 K/N 162 rs771719584 0.5618 None gnomAD-2.1.1 4.02E-06
4872 78 K/N 162 rs771719584 0.5618 None gnomAD-4.0.0 4.10548E-06
4873 79 F/L 163 None 0.6823 None gnomAD-4.0.0 1.59142E-06
4874 80 G/V 164 None 0.3325 None gnomAD-4.0.0 6.84249E-07
4875 81 A/G 165 rs369989679 0.4842 None gnomAD-2.1.1 2.82E-05
4875 81 A/G 165 rs369989679 0.4842 None gnomAD-3.1.2 3.29E-05
4875 81 A/G 165 rs369989679 0.4842 None 1000 genomes 1.99681E-04
4875 81 A/G 165 rs369989679 0.4842 None gnomAD-4.0.0 1.11543E-05
4877 83 I/L 168 rs375193984 0.4259 None gnomAD-2.1.1 4.02E-06
4877 83 I/L 168 rs375193984 0.4259 None gnomAD-3.1.2 6.57E-06
4877 83 I/L 168 rs375193984 0.4259 None gnomAD-4.0.0 3.84345E-06
4877 83 I/N 168 rs757451049 0.4259 None gnomAD-2.1.1 4.02E-06
4877 83 I/N 168 rs757451049 0.4259 None gnomAD-4.0.0 1.59148E-06
4878 84 C/R 169 rs1420951928 0.0806 None gnomAD-2.1.1 4.03E-06
4878 84 C/R 169 rs1420951928 0.0806 None gnomAD-3.1.2 6.57E-06
4878 84 C/R 169 rs1420951928 0.0806 None gnomAD-4.0.0 2.56232E-06
4878 84 C/Y 169 rs546830236 0.0806 None gnomAD-2.1.1 2.82E-05
4878 84 C/Y 169 rs546830236 0.0806 None gnomAD-3.1.2 6.57E-06
4878 84 C/Y 169 rs546830236 0.0806 None 1000 genomes 1.99681E-04
4878 84 C/Y 169 rs546830236 0.0806 None gnomAD-4.0.0 8.05603E-06
4880 86 A/V 172 rs373683445 0.1049 None gnomAD-2.1.1 4.29E-05
4880 86 A/V 172 rs373683445 0.1049 None gnomAD-3.1.2 1.31427E-04
4880 86 A/V 172 rs373683445 0.1049 None 1000 genomes 1.99681E-04
4880 86 A/V 172 rs373683445 0.1049 None gnomAD-4.0.0 2.54071E-05
4881 87 E/D 173 rs781644443 0.4170 None gnomAD-2.1.1 1.07E-05
4881 87 E/D 173 rs781644443 0.4170 None gnomAD-3.1.2 2.63E-05
4881 87 E/D 173 rs781644443 0.4170 None gnomAD-4.0.0 2.29299E-05
4881 87 E/G 173 None 0.4170 None gnomAD-4.0.0 1.59152E-06
4881 87 E/Q 173 rs756371735 0.4170 None gnomAD-4.0.0 3.60099E-06
4881 87 E/V 173 rs2081343515 0.4170 None gnomAD-4.0.0 3.18303E-06
4882 88 L/F 174 rs1197344089 0.0925 None gnomAD-4.0.0 1.36852E-06
4882 88 L/S 174 None 0.0925 None gnomAD-4.0.0 2.73704E-06
4883 89 I/N 175 None 0.2901 None gnomAD-4.0.0 1.59151E-06
4883 89 I/S 175 rs369548127 0.2901 None gnomAD-2.1.1 4.03E-06
4883 89 I/S 175 rs369548127 0.2901 None gnomAD-4.0.0 1.59151E-06
4883 89 I/T 175 rs369548127 0.2901 None gnomAD-2.1.1 4.03E-06
4883 89 I/T 175 rs369548127 0.2901 None gnomAD-4.0.0 3.18301E-06
4884 90 I/V 177 None 0.1376 None gnomAD-4.0.0 1.20032E-06