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

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
3058 1 I/L 1 None 0.5230 None gnomAD-4.0.0 1.36822E-06
3058 1 I/M 1 rs1442547576 0.5230 None gnomAD-2.1.1 3.99E-06
3058 1 I/M 1 rs1442547576 0.5230 None gnomAD-3.1.2 6.57E-06
3058 1 I/M 1 rs1442547576 0.5230 None gnomAD-4.0.0 6.56953E-06
3058 1 I/R 1 None 0.5230 None gnomAD-4.0.0 1.59075E-06
3058 1 I/T 1 rs373657576 0.5230 None gnomAD-2.1.1 1.2E-05
3058 1 I/T 1 rs373657576 0.5230 None gnomAD-3.1.2 6.57E-06
3058 1 I/T 1 rs373657576 0.5230 None 1000 genomes 1.99681E-04
3058 1 I/T 1 rs373657576 0.5230 None gnomAD-4.0.0 2.561E-06
3058 1 I/V 1 rs759240786 0.5230 None gnomAD-2.1.1 1.2E-05
3058 1 I/V 1 rs759240786 0.5230 None gnomAD-4.0.0 3.42056E-06
3059 2 E/Q 2 None 0.4952 None gnomAD-4.0.0 1.59075E-06
3059 2 E/V 2 rs727504501 0.4952 None gnomAD-2.1.1 5.32E-05
3059 2 E/V 2 rs727504501 0.4952 None gnomAD-3.1.2 1.97E-05
3059 2 E/V 2 rs727504501 0.4952 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 0.4466 None gnomAD-2.1.1 3.99E-06
3070 13 L/P 18 rs530883294 0.4466 None gnomAD-3.1.2 6.57E-06
3070 13 L/P 18 rs530883294 0.4466 None 1000 genomes 1.99681E-04
3070 13 L/P 18 rs530883294 0.4466 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 0.3775 None gnomAD-2.1.1 3.98E-06
3142 85 V/G 178 rs1165830952 0.3775 None gnomAD-4.0.0 1.59051E-06