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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3058 1 I/L 1 None 1.0773 None gnomAD-4.0.0 1.36822E-06
3058 1 I/M 1 rs1442547576 1.0773 None gnomAD-2.1.1 3.99E-06
3058 1 I/M 1 rs1442547576 1.0773 None gnomAD-3.1.2 6.57E-06
3058 1 I/M 1 rs1442547576 1.0773 None gnomAD-4.0.0 6.56953E-06
3058 1 I/R 1 None 1.0773 None gnomAD-4.0.0 1.59075E-06
3058 1 I/T 1 rs373657576 1.0773 None gnomAD-2.1.1 1.2E-05
3058 1 I/T 1 rs373657576 1.0773 None gnomAD-3.1.2 6.57E-06
3058 1 I/T 1 rs373657576 1.0773 None 1000 genomes 1.99681E-04
3058 1 I/T 1 rs373657576 1.0773 None gnomAD-4.0.0 2.561E-06
3058 1 I/V 1 rs759240786 1.0773 None gnomAD-2.1.1 1.2E-05
3058 1 I/V 1 rs759240786 1.0773 None gnomAD-4.0.0 3.42056E-06
3059 2 E/Q 2 None 0.4972 None gnomAD-4.0.0 1.59075E-06
3059 2 E/V 2 rs727504501 0.4972 None gnomAD-2.1.1 5.32E-05
3059 2 E/V 2 rs727504501 0.4972 None gnomAD-3.1.2 1.97E-05
3059 2 E/V 2 rs727504501 0.4972 None gnomAD-4.0.0 2.78823E-05
3060 3 F/L 3 None 0.2764 None gnomAD-4.0.0 1.20032E-06
3061 4 R/G 4 rs561375563 0.2651 None gnomAD-2.1.1 3.99E-06
3061 4 R/G 4 rs561375563 0.2651 None gnomAD-3.1.2 6.57E-06
3061 4 R/G 4 rs561375563 0.2651 None 1000 genomes 1.99681E-04
3061 4 R/G 4 rs561375563 0.2651 None gnomAD-4.0.0 6.56426E-06
3061 4 R/S 4 rs773298764 0.2651 None gnomAD-4.0.0 1.59071E-06
3062 5 K/R 5 rs769821924 0.2246 None gnomAD-2.1.1 1.99E-05
3062 5 K/R 5 rs769821924 0.2246 None gnomAD-3.1.2 6.57E-06
3062 5 K/R 5 rs769821924 0.2246 None gnomAD-4.0.0 2.85012E-05
3063 6 H/D 7 rs1325663861 0.5987 None gnomAD-3.1.2 6.58E-06
3063 6 H/D 7 rs1325663861 0.5987 None gnomAD-4.0.0 6.57652E-06
3063 6 H/R 7 rs762023362 0.5987 None gnomAD-2.1.1 3.99E-06
3063 6 H/R 7 rs762023362 0.5987 None gnomAD-4.0.0 2.73642E-06
3064 7 I/T 8 rs769120910 0.1471 None gnomAD-2.1.1 3.99E-06
3064 7 I/T 8 rs769120910 0.1471 None gnomAD-4.0.0 3.18136E-06
3064 7 I/V 8 None 0.1471 None gnomAD-4.0.0 1.59066E-06
3065 8 K/Q 9 None 0.8387 None gnomAD-4.0.0 3.18139E-06
3065 8 K/T 9 rs747328944 0.8387 None gnomAD-2.1.1 1.99E-05
3065 8 K/T 9 rs747328944 0.8387 None gnomAD-4.0.0 7.95342E-06
3067 10 I/L 13 None 0.2113 None gnomAD-4.0.0 1.20032E-06
3067 10 I/M 13 None 0.2113 None gnomAD-4.0.0 1.59066E-06
3067 10 I/T 13 rs1435097269 0.2113 None gnomAD-2.1.1 1.2E-05
3067 10 I/T 13 rs1435097269 0.2113 None gnomAD-4.0.0 6.36266E-06
3067 10 I/V 13 rs2154341582 0.2113 None gnomAD-3.1.2 6.57E-06
3067 10 I/V 13 rs2154341582 0.2113 None gnomAD-4.0.0 6.56418E-06
3068 11 K/N 14 rs772683836 0.5382 None gnomAD-2.1.1 3.99E-06
3068 11 K/N 14 rs772683836 0.5382 None gnomAD-4.0.0 6.84102E-07
3069 12 V/A 16 None 0.1637 None gnomAD-4.0.0 1.20033E-06
3069 12 V/I 16 rs2090837308 0.1637 None gnomAD-4.0.0 1.3682E-06
3069 12 V/L 16 None 0.1637 None gnomAD-4.0.0 4.10461E-06
3070 13 L/P 18 rs530883294 0.4456 None gnomAD-2.1.1 3.99E-06
3070 13 L/P 18 rs530883294 0.4456 None gnomAD-3.1.2 6.57E-06
3070 13 L/P 18 rs530883294 0.4456 None 1000 genomes 1.99681E-04
3070 13 L/P 18 rs530883294 0.4456 None gnomAD-4.0.0 3.84112E-06
3071 14 E/D 23 rs779657872 0.4197 None gnomAD-2.1.1 3.18E-05
3071 14 E/D 23 rs779657872 0.4197 None gnomAD-3.1.2 6.57E-06
3071 14 E/D 23 rs779657872 0.4197 None gnomAD-4.0.0 6.57125E-06
3071 14 E/G 23 rs755629588 0.4197 None gnomAD-2.1.1 7.97E-06
3071 14 E/G 23 rs755629588 0.4197 None gnomAD-4.0.0 1.23137E-05
3071 14 E/Q 23 rs777427458 0.4197 None gnomAD-2.1.1 1.59E-05
3071 14 E/Q 23 rs777427458 0.4197 None gnomAD-4.0.0 6.84095E-06
3072 15 K/E 24 rs752455147 0.6175 None gnomAD-2.1.1 1.2E-05
3072 15 K/E 24 rs752455147 0.6175 None gnomAD-4.0.0 7.95312E-06
3074 17 R/P 26 None 0.6963 None gnomAD-4.0.0 6.84093E-07
3074 17 R/Q 26 rs565052824 0.6963 None gnomAD-2.1.1 3.98E-06
3074 17 R/Q 26 rs565052824 0.6963 None gnomAD-3.1.2 1.97E-05
3074 17 R/Q 26 rs565052824 0.6963 None 1000 genomes 3.99361E-04
3074 17 R/Q 26 rs565052824 0.6963 None gnomAD-4.0.0 6.19551E-06
3076 19 M/I 29 rs144592053 0.3562 None gnomAD-2.1.1 1.59E-05
3076 19 M/I 29 rs144592053 0.3562 None gnomAD-3.1.2 6.57E-06
3076 19 M/I 29 rs144592053 0.3562 None gnomAD-4.0.0 5.57621E-06
3076 19 M/L 29 rs766144077 0.3562 None gnomAD-2.1.1 7.97E-06
3076 19 M/L 29 rs766144077 0.3562 None gnomAD-3.1.2 1.31E-05
3076 19 M/L 29 rs766144077 0.3562 None gnomAD-4.0.0 1.85871E-06
3076 19 M/V 29 rs766144077 0.3562 None gnomAD-2.1.1 7.08E-06
3076 19 M/V 29 rs766144077 0.3562 None gnomAD-3.1.2 2.63E-05
3076 19 M/V 29 rs766144077 0.3562 None gnomAD-4.0.0 6.81526E-06
3077 20 F/C 30 None 0.1316 None gnomAD-4.0.0 2.40064E-06
3078 21 E/G 31 rs370704384 0.2965 None gnomAD-2.1.1 3.98E-06
3078 21 E/Q 31 rs1309287997 0.2965 None gnomAD-3.1.2 6.57E-06
3078 21 E/Q 31 rs1309287997 0.2965 None gnomAD-4.0.0 2.56117E-06
3079 22 C/R 33 rs141259583 0.1336 None gnomAD-2.1.1 7.08E-06
3079 22 C/R 33 rs141259583 0.1336 None gnomAD-3.1.2 1.31E-05
3079 22 C/R 33 rs141259583 0.1336 None gnomAD-4.0.0 3.04475E-06
3079 22 C/Y 33 rs2154341551 0.1336 None gnomAD-4.0.0 1.36816E-06
3080 23 E/D 34 None 0.2184 None gnomAD-4.0.0 6.00161E-06
3080 23 E/G 34 rs1305956743 0.2184 None gnomAD-3.1.2 6.57E-06
3080 23 E/G 34 rs1305956743 0.2184 None gnomAD-4.0.0 6.57039E-06
3080 23 E/Q 34 None 0.2184 None gnomAD-4.0.0 1.20032E-06
3081 24 V/I 35 rs1037728221 0.1377 None gnomAD-3.1.2 6.57E-06
3081 24 V/I 35 rs1037728221 0.1377 None gnomAD-4.0.0 2.56121E-06
3082 25 S/C 38 None 0.1067 None gnomAD-4.0.0 1.59056E-06
3084 27 P/L 41 rs1033996370 0.2701 None gnomAD-4.0.0 6.84079E-07
3084 27 P/R 41 rs1033996370 0.2701 None gnomAD-3.1.2 6.57E-06
3084 27 P/R 41 rs1033996370 0.2701 None gnomAD-4.0.0 2.47832E-06
3084 27 P/S 41 None 0.2701 None gnomAD-4.0.0 1.36815E-06
3085 28 D/G 43 None 0.5051 None gnomAD-4.0.0 1.20034E-06
3086 29 I/L 44 rs2090827474 0.3694 None gnomAD-3.1.2 6.57E-06
3086 29 I/L 44 rs2090827474 0.3694 None gnomAD-4.0.0 6.56918E-06
3086 29 I/V 44 rs2090827474 0.3694 None gnomAD-4.0.0 1.59055E-06
3088 31 V/E 46 None 0.2798 None gnomAD-4.0.0 1.20032E-06
3088 31 V/I 46 rs776977480 0.2798 None gnomAD-2.1.1 1.59E-05
3088 31 V/I 46 rs776977480 0.2798 None gnomAD-4.0.0 8.893E-06
3090 33 W/S 48 rs761150662 0.2007 None gnomAD-2.1.1 3.98E-06
3090 33 W/S 48 rs761150662 0.2007 None gnomAD-4.0.0 3.18109E-06
3091 34 M/I 49 None 0.2836 None gnomAD-4.0.0 2.05222E-06
3091 34 M/R 49 None 0.2836 None gnomAD-4.0.0 7.20193E-06
3091 34 M/V 49 rs1307544270 0.2836 None gnomAD-4.0.0 6.84074E-06
3092 35 K/Q 50 None 0.1646 None gnomAD-4.0.0 1.59052E-06
3092 35 K/R 50 None 0.1646 None gnomAD-4.0.0 1.32035E-05
3093 36 D/N 51 rs377376861 0.3853 None gnomAD-2.1.1 7.96E-06
3093 36 D/N 51 rs377376861 0.3853 None gnomAD-3.1.2 1.97E-05
3093 36 D/N 51 rs377376861 0.3853 None gnomAD-4.0.0 3.09785E-06
3093 36 D/Y 51 None 0.3853 None gnomAD-4.0.0 6.84078E-07
3094 37 D/G 52 rs1330654958 0.7504 None gnomAD-2.1.1 3.98E-06
3094 37 D/G 52 rs1330654958 0.7504 None gnomAD-4.0.0 1.59054E-06
3094 37 D/N 52 rs1228717391 0.7504 None gnomAD-2.1.1 3.98E-06
3094 37 D/N 52 rs1228717391 0.7504 None gnomAD-4.0.0 1.59054E-06
3095 38 Q/R 55 None 0.7647 None gnomAD-4.0.0 1.20032E-06
3096 39 E/A 56 None 0.8316 None gnomAD-4.0.0 1.36815E-06
3096 39 E/D 56 None 0.8316 None gnomAD-4.0.0 1.59054E-06
3096 39 E/V 56 rs772499668 0.8316 None gnomAD-2.1.1 7.96E-06
3096 39 E/V 56 rs772499668 0.8316 None gnomAD-4.0.0 4.78853E-06
3097 40 L/P 58 rs373366126 0.2183 None gnomAD-2.1.1 2.83E-05
3097 40 L/P 58 rs373366126 0.2183 None gnomAD-3.1.2 5.91E-05
3097 40 L/P 58 rs373366126 0.2183 None gnomAD-4.0.0 1.19576E-04
3097 40 L/Q 58 None 0.2183 None gnomAD-2.1.1 3.19E-05
3097 40 L/Q 58 None 0.2183 None gnomAD-3.1.2 6.57E-06
3097 40 L/Q 58 None 0.2183 None gnomAD-4.0.0 6.57013E-06
3097 40 L/R 58 rs373366126 0.2183 None gnomAD-2.1.1 7.96E-06
3097 40 L/R 58 rs373366126 0.2183 None gnomAD-3.1.2 6.57E-06
3097 40 L/R 58 rs373366126 0.2183 None gnomAD-4.0.0 2.47827E-06
3098 41 Q/E 59 None 0.9136 None gnomAD-4.0.0 3.42037E-06
3099 42 I/N 70 rs747584198 0.7098 None gnomAD-2.1.1 3.98E-06
3099 42 I/N 70 rs747584198 0.7098 None gnomAD-4.0.0 1.59055E-06
3099 42 I/V 70 rs2090820350 0.7098 None gnomAD-3.1.2 6.57E-06
3099 42 I/V 70 rs2090820350 0.7098 None gnomAD-4.0.0 6.56927E-06
3100 43 T/I 73 rs780950679 0.4510 None gnomAD-2.1.1 3.98E-06
3100 43 T/I 73 rs780950679 0.4510 None gnomAD-4.0.0 3.1811E-06
3101 44 D/E 111 rs148676491 1.0725 None gnomAD-2.1.1 1.19E-05
3101 44 D/E 111 rs148676491 1.0725 None gnomAD-3.1.2 1.31E-05
3101 44 D/E 111 rs148676491 1.0725 None gnomAD-4.0.0 1.48698E-05
3101 44 D/N 111 None 1.0725 None gnomAD-4.0.0 1.20032E-06
3102 45 R/G 115 None 0.3278 None gnomAD-4.0.0 1.59055E-06
3102 45 R/K 115 None 0.3278 None gnomAD-4.0.0 1.59056E-06
3103 46 I/V 121 rs2090782630 0.2618 None gnomAD-3.1.2 6.57E-06
3103 46 I/V 121 rs2090782630 0.2618 None gnomAD-4.0.0 6.57099E-06
3104 47 K/E 122 rs2154341451 0.5943 None gnomAD-4.0.0 1.20032E-06
3105 48 I/F 123 None 0.3903 None gnomAD-4.0.0 6.84092E-07
3105 48 I/T 123 rs753742861 0.3903 None gnomAD-2.1.1 2.39E-05
3105 48 I/T 123 rs753742861 0.3903 None gnomAD-4.0.0 1.27249E-05
3105 48 I/V 123 None 0.3903 None gnomAD-4.0.0 6.84092E-07
3107 50 K/E 127 rs764095381 0.3594 None gnomAD-2.1.1 3.98E-06
3107 50 K/E 127 rs764095381 0.3594 None gnomAD-3.1.2 6.57E-06
3107 50 K/E 127 rs764095381 0.3594 None gnomAD-4.0.0 5.12262E-06
3108 51 E/D 130 rs756206178 0.4362 None gnomAD-2.1.1 1.06E-05
3108 51 E/D 130 rs756206178 0.4362 None gnomAD-3.1.2 4.6E-05
3108 51 E/D 130 rs756206178 0.4362 None gnomAD-4.0.0 8.67421E-06
3109 52 K/R 131 rs753036867 0.3838 None gnomAD-2.1.1 1.77E-05
3109 52 K/R 131 rs753036867 0.3838 None gnomAD-3.1.2 6.57E-05
3109 52 K/R 131 rs753036867 0.3838 None gnomAD-4.0.0 1.11527E-05
3110 53 Y/D 134 rs2090779143 0.2564 None gnomAD-3.1.2 6.58E-06
3110 53 Y/D 134 rs2090779143 0.2564 None gnomAD-4.0.0 2.56156E-06
3111 54 V/I 135 rs2090778418 0.1663 None gnomAD-4.0.0 3.18123E-06
3112 55 H/L 136 rs1381688014 0.1867 None gnomAD-2.1.1 3.98E-06
3112 55 H/L 136 rs1381688014 0.1867 None gnomAD-4.0.0 1.59061E-06
3112 55 H/Y 136 None 0.1867 None gnomAD-4.0.0 3.60097E-06
3113 56 R/C 137 rs751998418 0.2100 None gnomAD-2.1.1 1.77E-05
3113 56 R/C 137 rs751998418 0.2100 None gnomAD-3.1.2 1.97E-05
3113 56 R/C 137 rs751998418 0.2100 None gnomAD-4.0.0 1.98273E-05
3113 56 R/H 137 rs141258018 0.2100 None gnomAD-2.1.1 4.78032E-04
3113 56 R/H 137 rs141258018 0.2100 None gnomAD-3.1.2 3.22144E-04
3113 56 R/H 137 rs141258018 0.2100 None 1000 genomes 1.39776E-03
3113 56 R/H 137 rs141258018 0.2100 None gnomAD-4.0.0 3.09165E-04
3113 56 R/S 137 rs751998418 0.2100 None gnomAD-3.1.2 6.57E-06
3113 56 R/S 137 rs751998418 0.2100 None gnomAD-4.0.0 6.57289E-06
3114 57 L/F 138 rs556868685 0.1056 None gnomAD-2.1.1 7.97E-06
3114 57 L/F 138 rs556868685 0.1056 None gnomAD-3.1.2 6.57E-06
3114 57 L/F 138 rs556868685 0.1056 None 1000 genomes 1.99681E-04
3114 57 L/F 138 rs556868685 0.1056 None gnomAD-4.0.0 3.09766E-06
3115 58 L/R 139 rs773714030 0.2475 None gnomAD-2.1.1 3.98E-06
3116 59 I/M 140 rs760230943 0.1734 None gnomAD-2.1.1 5.58E-05
3116 59 I/M 140 rs760230943 0.1734 None gnomAD-4.0.0 2.06774E-05
3117 60 P/L 141 rs752062913 0.4066 None gnomAD-3.1.2 6.57E-06
3117 60 P/L 141 rs752062913 0.4066 None gnomAD-4.0.0 1.85874E-06
3118 61 S/F 143 rs879133990 0.3996 None gnomAD-2.1.1 3.18E-05
3118 61 S/F 143 rs879133990 0.3996 None gnomAD-3.1.2 6.57E-06
3118 61 S/F 143 rs879133990 0.3996 None gnomAD-4.0.0 3.04477E-06
3119 62 T/A 144 None 0.1346 None gnomAD-4.0.0 6.84078E-07
3119 62 T/I 144 rs1444407818 0.1346 None gnomAD-2.1.1 7.08E-06
3119 62 T/I 144 rs1444407818 0.1346 None gnomAD-4.0.0 1.59054E-06
3119 62 T/S 144 rs775164752 0.1346 None gnomAD-2.1.1 7.97E-06
3119 62 T/S 144 rs775164752 0.1346 None gnomAD-4.0.0 4.78854E-06
3120 63 R/G 145 None 0.4554 None gnomAD-4.0.0 6.84078E-07
3120 63 R/L 145 None 0.4554 None gnomAD-4.0.0 6.84078E-07
3120 63 R/P 145 rs72647894 0.4554 None gnomAD-4.0.0 6.84078E-07
3120 63 R/Q 145 rs72647894 0.4554 None gnomAD-2.1.1 4.31987E-03
3120 63 R/Q 145 rs72647894 0.4554 None gnomAD-3.1.2 3.89788E-03
3120 63 R/Q 145 rs72647894 0.4554 None 1000 genomes 1.59744E-03
3120 63 R/Q 145 rs72647894 0.4554 None gnomAD-4.0.0 3.7582E-03
3120 63 R/W 145 rs149492487 0.4554 None gnomAD-2.1.1 3.54E-05
3120 63 R/W 145 rs149492487 0.4554 None gnomAD-3.1.2 4.6E-05
3120 63 R/W 145 rs149492487 0.4554 None 1000 genomes 1.99681E-04
3120 63 R/W 145 rs149492487 0.4554 None gnomAD-4.0.0 1.42498E-05
3121 64 M/I 146 rs200413367 0.7096 None gnomAD-2.1.1 7.57E-05
3121 64 M/I 146 rs200413367 0.7096 None gnomAD-3.1.2 6.57E-05
3121 64 M/I 146 rs200413367 0.7096 None gnomAD-4.0.0 4.58483E-05
3121 64 M/V 146 None 0.7096 None gnomAD-4.0.0 1.20032E-06
3122 65 S/C 148 None 0.4669 None gnomAD-4.0.0 1.20032E-06
3122 65 S/T 148 None 0.4669 None gnomAD-4.0.0 1.20032E-06
3123 66 D/E 149 rs397517785 0.2133 None gnomAD-2.1.1 7.97E-06
3123 66 D/E 149 rs397517785 0.2133 None gnomAD-3.1.2 6.57E-06
3123 66 D/E 149 rs397517785 0.2133 None gnomAD-4.0.0 1.02445E-05
3123 66 D/N 149 rs1213706471 0.2133 None gnomAD-2.1.1 3.98E-06
3123 66 D/N 149 rs1213706471 0.2133 None gnomAD-4.0.0 1.59056E-06
3125 68 G/A 152 None 0.2687 None gnomAD-4.0.0 1.59053E-06
3125 68 G/E 152 None 0.2687 None gnomAD-4.0.0 6.36211E-06
3125 68 G/R 152 None 0.2687 None gnomAD-4.0.0 1.36816E-06
3130 73 V/A 157 None 0.2765 None gnomAD-4.0.0 1.59051E-06
3131 74 A/G 158 None 0.2463 None gnomAD-4.0.0 1.20032E-06
3131 74 A/V 158 None 0.2463 None gnomAD-4.0.0 1.20032E-06
3132 75 G/E 159 rs1293502713 0.8857 None gnomAD-4.0.0 1.59052E-06
3134 77 N/I 162 None 0.4332 None gnomAD-4.0.0 1.36814E-06
3134 77 N/K 162 rs587780987 0.4332 None gnomAD-4.0.0 1.36815E-06
3134 77 N/S 162 rs777759635 0.4332 None gnomAD-2.1.1 7.97E-06
3134 77 N/S 162 rs777759635 0.4332 None gnomAD-3.1.2 6.57E-06
3134 77 N/S 162 rs777759635 0.4332 None gnomAD-4.0.0 4.95611E-06
3135 78 V/M 163 rs557922344 0.6681 None gnomAD-2.1.1 7.97E-06
3135 78 V/M 163 rs557922344 0.6681 None gnomAD-3.1.2 1.97E-05
3135 78 V/M 163 rs557922344 0.6681 None 1000 genomes 3.99361E-04
3135 78 V/M 163 rs557922344 0.6681 None gnomAD-4.0.0 7.43435E-06
3138 81 A/S 172 rs781368593 0.0889 None gnomAD-2.1.1 3.98E-06
3138 81 A/S 172 rs781368593 0.0889 None gnomAD-3.1.2 6.57E-06
3138 81 A/S 172 rs781368593 0.0889 None gnomAD-4.0.0 6.57168E-06
3138 81 A/T 172 None 0.0889 None gnomAD-4.0.0 1.59052E-06
3138 81 A/V 172 rs755278092 0.0889 None gnomAD-2.1.1 1.2E-05
3138 81 A/V 172 rs755278092 0.0889 None gnomAD-4.0.0 4.7716E-06
3139 82 K/N 173 rs1346392116 0.5278 None gnomAD-2.1.1 3.98E-06
3139 82 K/N 173 rs1346392116 0.5278 None gnomAD-4.0.0 1.36815E-06
3139 82 K/Q 173 None 0.5278 None gnomAD-4.0.0 1.59052E-06
3141 84 F/V 175 rs1423594676 0.6747 None gnomAD-2.1.1 3.98E-06
3141 84 F/V 175 rs1423594676 0.6747 None gnomAD-4.0.0 1.59052E-06
3142 85 V/G 178 rs1165830952 0.3772 None gnomAD-2.1.1 3.98E-06
3142 85 V/G 178 rs1165830952 0.3772 None gnomAD-4.0.0 1.59051E-06