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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3147 1 V/I 1 rs150283731 0.4379 None gnomAD-2.1.1 3.98E-06
3148 2 R/C 2 rs372196051 0.7886 None gnomAD-2.1.1 1.77E-05
3148 2 R/C 2 rs372196051 0.7886 None gnomAD-3.1.2 2.63E-05
3148 2 R/C 2 rs372196051 0.7886 None gnomAD-4.0.0 3.65561E-05
3148 2 R/H 2 rs368786036 0.7886 None gnomAD-2.1.1 2.79E-05
3148 2 R/H 2 rs368786036 0.7886 None gnomAD-3.1.2 5.26E-05
3148 2 R/H 2 rs368786036 0.7886 None 1000 genomes 1.99681E-04
3148 2 R/H 2 rs368786036 0.7886 None gnomAD-4.0.0 5.6378E-05
3148 2 R/L 2 rs368786036 0.7886 None gnomAD-2.1.1 3.98E-06
3148 2 R/L 2 rs368786036 0.7886 None gnomAD-4.0.0 8.20898E-06
3150 4 R/G 4 rs146572907 0.5819 None gnomAD-2.1.1 3.98E-06
3150 4 R/G 4 rs146572907 0.5819 None gnomAD-4.0.0 6.84087E-07
3150 4 R/L 4 None 0.5819 None gnomAD-4.0.0 6.84079E-07
3150 4 R/Q 4 rs141093658 0.5819 None gnomAD-2.1.1 2.83E-05
3150 4 R/Q 4 rs141093658 0.5819 None gnomAD-3.1.2 1.31E-05
3150 4 R/Q 4 rs141093658 0.5819 None gnomAD-4.0.0 2.47831E-05
3151 5 S/N 5 rs749077031 0.2500 None gnomAD-2.1.1 7.97E-06
3151 5 S/N 5 rs749077031 0.2500 None gnomAD-4.0.0 2.05225E-06
3151 5 S/R 5 rs879041803 0.2500 None gnomAD-4.0.0 1.59056E-06
3152 6 I/M 7 None 0.3996 None gnomAD-4.0.0 1.59061E-06
3152 6 I/T 7 rs1228152341 0.3996 None gnomAD-2.1.1 3.18E-05
3152 6 I/T 7 rs1228152341 0.3996 None gnomAD-3.1.2 6.57E-06
3152 6 I/T 7 rs1228152341 0.3996 None gnomAD-4.0.0 6.57004E-06
3154 8 K/N 9 None 0.9174 None gnomAD-4.0.0 6.84118E-07
3154 8 K/R 9 rs4893853 0.9174 None gnomAD-2.1.1 6.74519E-02
3154 8 K/R 9 rs4893853 0.9174 None gnomAD-3.1.2 5.35297E-02
3154 8 K/R 9 rs4893853 0.9174 None 1000 genomes 8.60623E-02
3154 8 K/R 9 rs4893853 0.9174 None gnomAD-4.0.0 3.99737E-02
3155 9 E/Q 11 rs1458652114 0.5364 None gnomAD-3.1.2 6.57E-06
3155 9 E/Q 11 rs1458652114 0.5364 None gnomAD-4.0.0 2.02981E-06
3156 10 V/F 13 rs1403999393 0.2129 None gnomAD-2.1.1 3.99E-06
3156 10 V/F 13 rs1403999393 0.2129 None gnomAD-3.1.2 6.57E-06
3156 10 V/F 13 rs1403999393 0.2129 None gnomAD-4.0.0 6.57229E-06
3156 10 V/I 13 None 0.2129 None gnomAD-4.0.0 1.36826E-06
3157 11 Q/R 14 None 0.6344 None gnomAD-4.0.0 2.05251E-06
3158 12 V/F 16 rs748114137 0.1413 None gnomAD-2.1.1 1.2E-05
3158 12 V/F 16 rs748114137 0.1413 None gnomAD-3.1.2 2.63E-05
3158 12 V/F 16 rs748114137 0.1413 None gnomAD-4.0.0 1.55181E-05
3158 12 V/L 16 None 0.1413 None gnomAD-4.0.0 6.8535E-07
3160 14 E/D 23 None 0.4956 None gnomAD-4.0.0 6.84907E-07
3160 14 E/G 23 rs1234344822 0.4956 None gnomAD-3.1.2 6.57E-06
3160 14 E/G 23 rs1234344822 0.4956 None gnomAD-4.0.0 6.57376E-06
3161 15 K/E 24 rs113021611 0.6474 None gnomAD-4.0.0 1.36959E-06
3162 16 Q/K 25 None 0.3430 None gnomAD-4.0.0 6.00442E-06
3162 16 Q/R 25 rs727503681 0.3430 None gnomAD-2.1.1 3.03519E-04
3162 16 Q/R 25 rs727503681 0.3430 None gnomAD-3.1.2 5.26E-05
3162 16 Q/R 25 rs727503681 0.3430 None gnomAD-4.0.0 8.7387E-05
3163 17 R/C 26 rs140664731 0.3329 None gnomAD-2.1.1 1.31282E-04
3163 17 R/C 26 rs140664731 0.3329 None gnomAD-3.1.2 2.82668E-04
3163 17 R/C 26 rs140664731 0.3329 None 1000 genomes 5.99042E-04
3163 17 R/C 26 rs140664731 0.3329 None gnomAD-4.0.0 5.94957E-05
3163 17 R/H 26 rs149755500 0.3329 None gnomAD-2.1.1 1.9159E-04
3163 17 R/H 26 rs149755500 0.3329 None gnomAD-3.1.2 3.35147E-04
3163 17 R/H 26 rs149755500 0.3329 None gnomAD-4.0.0 3.39749E-04
3163 17 R/S 26 rs140664731 0.3329 None gnomAD-2.1.1 3.99E-06
3164 18 A/D 28 None 0.1359 None gnomAD-4.0.0 1.20056E-06
3165 19 V/G 29 None 0.2586 None gnomAD-4.0.0 1.20043E-06
3165 19 V/I 29 None 0.2586 None gnomAD-4.0.0 6.8416E-07
3165 19 V/L 29 None 0.2586 None gnomAD-4.0.0 1.36832E-06
3168 22 F/S 33 None 0.0734 None gnomAD-4.0.0 3.18147E-06
3168 22 F/V 33 rs746038856 0.0734 None gnomAD-2.1.1 1.2E-05
3168 22 F/V 33 rs746038856 0.0734 None gnomAD-4.0.0 3.18149E-06
3170 24 V/A 35 rs779339626 0.0973 None gnomAD-2.1.1 2.48E-05
3170 24 V/A 35 rs779339626 0.0973 None gnomAD-3.1.2 3.94E-05
3170 24 V/A 35 rs779339626 0.0973 None gnomAD-4.0.0 6.13403E-05
3170 24 V/L 35 None 0.0973 None gnomAD-4.0.0 1.20034E-06
3171 25 N/I 38 rs139992576 0.3070 None gnomAD-2.1.1 1.2E-05
3171 25 N/I 38 rs139992576 0.3070 None gnomAD-3.1.2 6.57E-06
3171 25 N/I 38 rs139992576 0.3070 None gnomAD-4.0.0 3.71727E-06
3171 25 N/K 38 None 0.3070 None gnomAD-4.0.0 6.84104E-07
3171 25 N/S 38 rs139992576 0.3070 None gnomAD-2.1.1 6.78E-05
3171 25 N/S 38 rs139992576 0.3070 None gnomAD-3.1.2 5.91E-05
3171 25 N/S 38 rs139992576 0.3070 None 1000 genomes 1.99681E-04
3171 25 N/S 38 rs139992576 0.3070 None gnomAD-4.0.0 8.73559E-05
3172 26 E/K 41 rs754529831 0.3836 None gnomAD-2.1.1 7.98E-06
3172 26 E/K 41 rs754529831 0.3836 None gnomAD-4.0.0 4.78877E-06
3173 27 D/E 42 rs151129843 0.4343 None gnomAD-4.0.0 5.47288E-06
3174 28 D/A 43 None 1.1136 None gnomAD-4.0.0 1.59067E-06
3174 28 D/N 43 rs984157404 1.1136 None gnomAD-2.1.1 1.06E-05
3174 28 D/N 43 rs984157404 1.1136 None gnomAD-3.1.2 1.31E-05
3174 28 D/N 43 rs984157404 1.1136 None gnomAD-4.0.0 5.57641E-06
3174 28 D/Y 43 None 1.1136 None gnomAD-4.0.0 6.84103E-07
3175 29 V/I 44 rs762667276 0.2359 None gnomAD-2.1.1 1.03672E-04
3175 29 V/I 44 rs762667276 0.2359 None gnomAD-3.1.2 6.57E-06
3175 29 V/I 44 rs762667276 0.2359 None gnomAD-4.0.0 4.70889E-05
3175 29 V/L 44 rs762667276 0.2359 None gnomAD-3.1.2 6.57E-06
3175 29 V/L 44 rs762667276 0.2359 None gnomAD-4.0.0 1.23918E-06
3176 30 D/Y 45 None 0.8162 None gnomAD-4.0.0 1.59065E-06
3177 31 A/D 46 None 0.1434 None gnomAD-4.0.0 1.59067E-06
3177 31 A/T 46 None 0.1434 None gnomAD-4.0.0 2.40068E-06
3178 32 H/L 47 rs1334781459 0.5532 None gnomAD-2.1.1 3.99E-06
3178 32 H/L 47 rs1334781459 0.5532 None gnomAD-4.0.0 4.78863E-06
3178 32 H/P 47 None 0.5532 None gnomAD-4.0.0 6.8409E-07
3178 32 H/R 47 rs1334781459 0.5532 None gnomAD-2.1.1 3.18E-05
3178 32 H/R 47 rs1334781459 0.5532 None gnomAD-3.1.2 6.57E-06
3178 32 H/R 47 rs1334781459 0.5532 None gnomAD-4.0.0 1.23919E-06
3179 33 W/C 48 rs1415326228 0.1013 None gnomAD-3.1.2 6.57E-06
3179 33 W/C 48 rs1415326228 0.1013 None gnomAD-4.0.0 2.47842E-06
3179 33 W/L 48 rs1561183313 0.1013 None gnomAD-4.0.0 3.18126E-06
3183 37 G/D 52 rs772678867 0.4285 None gnomAD-2.1.1 3.98E-06
3183 37 G/D 52 rs772678867 0.4285 None gnomAD-4.0.0 4.10453E-06
3185 39 E/K 56 None 0.4414 None gnomAD-4.0.0 1.5906E-06
3187 41 N/S 59 None 0.4321 None gnomAD-4.0.0 1.20033E-06
3188 42 F/S 70 rs776753598 0.2679 None gnomAD-2.1.1 3.98E-06
3188 42 F/S 70 rs776753598 0.2679 None gnomAD-4.0.0 1.59057E-06
3188 42 F/Y 70 rs776753598 0.2679 None gnomAD-2.1.1 3.98E-06
3188 42 F/Y 70 rs776753598 0.2679 None gnomAD-4.0.0 1.59057E-06
3189 43 Q/E 71 rs768694953 0.8889 None gnomAD-2.1.1 1.19E-05
3189 43 Q/E 71 rs768694953 0.8889 None gnomAD-4.0.0 4.78858E-06
3189 43 Q/K 71 None 0.8889 None gnomAD-4.0.0 6.84083E-07
3190 44 V/F 72 rs370856494 0.6713 None gnomAD-2.1.1 7.97E-05
3190 44 V/F 72 rs370856494 0.6713 None gnomAD-3.1.2 3.29E-05
3190 44 V/F 72 rs370856494 0.6713 None 1000 genomes 1.99681E-04
3190 44 V/F 72 rs370856494 0.6713 None gnomAD-4.0.0 3.53145E-05
3191 45 Q/E 73 rs33997263 0.3479 None gnomAD-2.1.1 8.5E-05
3191 45 Q/E 73 rs33997263 0.3479 None gnomAD-3.1.2 8.54E-05
3191 45 Q/E 73 rs33997263 0.3479 None 1000 genomes 1.99681E-04
3191 45 Q/E 73 rs33997263 0.3479 None gnomAD-4.0.0 2.72603E-05
3192 46 E/K 111 rs868040631 0.4653 None gnomAD-4.0.0 1.59056E-06
3193 47 R/P 115 None 0.1275 None gnomAD-4.0.0 6.84089E-07
3193 47 R/Q 115 rs1034071730 0.1275 None gnomAD-2.1.1 3.98E-06
3193 47 R/Q 115 rs1034071730 0.1275 None gnomAD-3.1.2 6.57E-06
3193 47 R/Q 115 rs1034071730 0.1275 None gnomAD-4.0.0 1.98273E-05
3194 48 H/D 121 rs1420659953 0.2438 None gnomAD-4.0.0 6.84082E-07
3194 48 H/R 121 None 0.2438 None gnomAD-4.0.0 1.20034E-06
3194 48 H/Y 121 rs1420659953 0.2438 None gnomAD-4.0.0 1.36816E-06
3195 49 K/E 122 None 0.5429 None gnomAD-4.0.0 1.59055E-06
3196 50 Y/C 123 rs1238502159 0.2325 None gnomAD-2.1.1 7.08E-06
3196 50 Y/C 123 rs1238502159 0.2325 None gnomAD-3.1.2 6.57E-06
3196 50 Y/C 123 rs1238502159 0.2325 None gnomAD-4.0.0 3.0979E-06
3196 50 Y/F 123 None 0.2325 None gnomAD-4.0.0 6.84084E-07
3196 50 Y/H 123 None 0.2325 None gnomAD-4.0.0 1.20037E-06
3197 51 V/A 125 None 0.2672 None gnomAD-4.0.0 1.59056E-06
3197 51 V/I 125 rs1574506119 0.2672 None gnomAD-4.0.0 4.10461E-06
3198 52 V/M 127 rs1035580252 0.3199 None gnomAD-4.0.0 1.20035E-06
3199 53 E/G 130 rs2090451326 0.4479 None gnomAD-3.1.2 6.57E-06
3199 53 E/G 130 rs2090451326 0.4479 None gnomAD-4.0.0 6.56883E-06
3201 55 R/K 134 rs2090450408 0.3975 None gnomAD-4.0.0 1.59054E-06
3201 55 R/S 134 rs1349281831 0.3975 None gnomAD-2.1.1 3.98E-06
3201 55 R/S 134 rs1349281831 0.3975 None gnomAD-4.0.0 1.59055E-06
3202 56 I/M 135 None 0.3021 None gnomAD-4.0.0 1.59055E-06
3203 57 H/Q 136 rs779624746 0.1173 None gnomAD-2.1.1 3.98E-06
3203 57 H/Q 136 rs779624746 0.1173 None gnomAD-4.0.0 6.84082E-07
3203 57 H/Y 136 rs753075855 0.1173 None gnomAD-2.1.1 3.98E-06
3203 57 H/Y 136 rs753075855 0.1173 None gnomAD-4.0.0 1.3682E-06
3204 58 R/G 137 None 0.2423 None gnomAD-4.0.0 1.36819E-06
3204 58 R/L 137 None 0.2423 None gnomAD-4.0.0 6.84086E-07
3204 58 R/Q 137 rs775137389 0.2423 None gnomAD-2.1.1 7.96E-06
3204 58 R/Q 137 rs775137389 0.2423 None gnomAD-3.1.2 6.57E-06
3204 58 R/Q 137 rs775137389 0.2423 None gnomAD-4.0.0 9.91338E-06
3205 59 M/I 138 None 0.0621 None gnomAD-4.0.0 1.59053E-06
3205 59 M/T 138 rs1315204138 0.0621 None gnomAD-2.1.1 3.18E-05
3205 59 M/T 138 rs1315204138 0.0621 None gnomAD-3.1.2 6.57E-06
3205 59 M/T 138 rs1315204138 0.0621 None gnomAD-4.0.0 2.02982E-06
3206 60 F/L 139 rs1385591866 0.1970 None gnomAD-2.1.1 3.98E-06
3206 60 F/L 139 rs1385591866 0.1970 None gnomAD-4.0.0 3.18109E-06
3207 61 I/F 140 None 0.0923 None gnomAD-4.0.0 1.59053E-06
3207 61 I/M 140 rs750160721 0.0923 None gnomAD-2.1.1 3.98E-06
3207 61 I/M 140 rs750160721 0.0923 None gnomAD-4.0.0 3.18107E-06
3207 61 I/T 140 None 0.0923 None gnomAD-4.0.0 1.20032E-06
3208 62 S/C 141 None 0.4489 None gnomAD-4.0.0 1.59053E-06
3209 63 E/D 143 rs1022645763 0.4726 None gnomAD-3.1.2 1.31E-05
3209 63 E/D 143 rs1022645763 0.4726 None gnomAD-4.0.0 2.47827E-06
3209 63 E/G 143 None 0.4726 None gnomAD-4.0.0 1.20034E-06
3211 65 R/I 145 rs761751013 0.3357 None gnomAD-2.1.1 1.19E-05
3211 65 R/I 145 rs761751013 0.3357 None gnomAD-4.0.0 3.181E-06
3211 65 R/S 145 rs753709846 0.3357 None gnomAD-2.1.1 1.19E-05
3211 65 R/S 145 rs753709846 0.3357 None gnomAD-4.0.0 3.18101E-06
3211 65 R/T 145 rs761751013 0.3357 None gnomAD-2.1.1 1.19E-05
3211 65 R/T 145 rs761751013 0.3357 None gnomAD-4.0.0 6.36199E-06
3212 66 Q/K 146 rs1226969863 0.5918 None gnomAD-2.1.1 3.18E-05
3212 66 Q/K 146 rs1226969863 0.5918 None gnomAD-3.1.2 6.57E-06
3212 66 Q/K 146 rs1226969863 0.5918 None gnomAD-4.0.0 6.57125E-06
3213 67 S/R 148 rs760666570 0.4897 None gnomAD-2.1.1 1.99E-05
3213 67 S/R 148 rs760666570 0.4897 None gnomAD-3.1.2 6.57E-06
3213 67 S/R 148 rs760666570 0.4897 None gnomAD-4.0.0 4.33729E-06
3214 68 D/E 149 rs368323634 0.1595 None gnomAD-2.1.1 7.96E-06
3214 68 D/E 149 rs368323634 0.1595 None gnomAD-3.1.2 1.31E-05
3214 68 D/E 149 rs368323634 0.1595 None gnomAD-4.0.0 1.05323E-05
3214 68 D/N 149 rs778326573 0.1595 None gnomAD-2.1.1 1.42E-05
3214 68 D/N 149 rs778326573 0.1595 None gnomAD-3.1.2 1.31E-05
3214 68 D/N 149 rs778326573 0.1595 None gnomAD-4.0.0 6.19574E-06
3215 69 A/P 151 None 0.2744 None gnomAD-4.0.0 1.59051E-06
3216 70 G/A 152 rs573941323 0.2284 None gnomAD-2.1.1 3.98E-06
3216 70 G/A 152 rs573941323 0.2284 None gnomAD-3.1.2 1.31E-05
3216 70 G/A 152 rs573941323 0.2284 None 1000 genomes 1.99681E-04
3216 70 G/A 152 rs573941323 0.2284 None gnomAD-4.0.0 4.05911E-06
3217 71 E/A 153 rs1014216424 0.4576 None gnomAD-2.1.1 7.08E-06
3217 71 E/A 153 rs1014216424 0.4576 None gnomAD-3.1.2 3.28E-05
3217 71 E/A 153 rs1014216424 0.4576 None gnomAD-4.0.0 4.95649E-06
3217 71 E/K 153 rs759502450 0.4576 None gnomAD-2.1.1 6.77E-05
3217 71 E/K 153 rs759502450 0.4576 None gnomAD-3.1.2 1.31E-05
3217 71 E/K 153 rs759502450 0.4576 None gnomAD-4.0.0 3.09788E-05
3218 72 Y/C 154 None 0.1269 None gnomAD-4.0.0 6.8408E-07
3218 72 Y/S 154 None 0.1269 None gnomAD-4.0.0 6.8408E-07
3219 73 T/N 155 rs1385851793 0.1938 None gnomAD-2.1.1 3.18E-05
3219 73 T/N 155 rs1385851793 0.1938 None gnomAD-3.1.2 1.97E-05
3219 73 T/N 155 rs1385851793 0.1938 None gnomAD-4.0.0 2.72623E-05
3221 75 V/A 157 rs1445925686 0.2005 None gnomAD-2.1.1 3.98E-06
3221 75 V/A 157 rs1445925686 0.2005 None gnomAD-4.0.0 1.59053E-06
3222 76 A/S 158 rs1157020180 0.1109 None gnomAD-4.0.0 6.84101E-07
3222 76 A/T 158 None 0.1109 None gnomAD-4.0.0 1.3682E-06
3223 77 G/R 164 None 0.4737 None gnomAD-4.0.0 6.84105E-07
3224 78 R/G 165 rs557221911 1.0132 None gnomAD-2.1.1 1.99E-05
3224 78 R/G 165 rs557221911 1.0132 None gnomAD-3.1.2 1.31E-05
3224 78 R/G 165 rs557221911 1.0132 None 1000 genomes 1.99681E-04
3224 78 R/G 165 rs557221911 1.0132 None gnomAD-4.0.0 3.71726E-06
3225 79 N/K 166 rs1244268787 0.4895 None gnomAD-2.1.1 3.98E-06
3225 79 N/K 166 rs1244268787 0.4895 None gnomAD-4.0.0 6.84191E-07
3225 79 N/S 166 rs202011992 0.4895 None gnomAD-2.1.1 4.25E-05
3225 79 N/S 166 rs202011992 0.4895 None gnomAD-3.1.2 5.91E-05
3225 79 N/S 166 rs202011992 0.4895 None gnomAD-4.0.0 9.91407E-05
3226 80 R/K 168 rs769991631 0.7399 None gnomAD-2.1.1 3.98E-06
3226 80 R/K 168 rs769991631 0.7399 None gnomAD-4.0.0 1.59061E-06
3226 80 R/S 168 None 0.7399 None gnomAD-4.0.0 1.20063E-06
3227 81 S/C 169 rs886042755 0.1845 None gnomAD-2.1.1 7.08E-06
3227 81 S/C 169 rs886042755 0.1845 None gnomAD-3.1.2 2.63E-05
3227 81 S/C 169 rs886042755 0.1845 None gnomAD-4.0.0 1.48725E-05
3227 81 S/N 169 None 0.1845 None gnomAD-4.0.0 1.59059E-06
3228 82 S/C 171 rs371249764 0.2594 None gnomAD-2.1.1 1.19E-05
3228 82 S/C 171 rs371249764 0.2594 None gnomAD-3.1.2 2.63E-05
3228 82 S/C 171 rs371249764 0.2594 None gnomAD-4.0.0 1.54964E-05
3228 82 S/F 171 None 0.2594 None gnomAD-4.0.0 1.36882E-06
3230 84 T/I 173 None 0.2519 None gnomAD-4.0.0 1.20273E-06
3230 84 T/N 173 None 0.2519 None gnomAD-4.0.0 1.20273E-06
3231 85 L/F 174 rs786205404 0.1430 None gnomAD-4.0.0 1.37231E-06
3232 86 Y/C 175 rs537306539 0.4121 None gnomAD-2.1.1 2.83E-05
3232 86 Y/C 175 rs537306539 0.4121 None gnomAD-3.1.2 6.57E-06
3232 86 Y/C 175 rs537306539 0.4121 None gnomAD-4.0.0 1.4279E-05
3232 86 Y/S 175 rs537306539 0.4121 None gnomAD-3.1.2 6.57E-06
3232 86 Y/S 175 rs537306539 0.4121 None 1000 genomes 1.99681E-04
3232 86 Y/S 175 rs537306539 0.4121 None gnomAD-4.0.0 6.56625E-06
3233 87 V/I 177 None 0.2566 None gnomAD-4.0.0 1.37494E-06