Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21559 1 A/D 1 rs1191282845 0.1878 None gnomAD-2.1.1 4.05E-06
21559 1 A/D 1 rs1191282845 0.1878 None gnomAD-4.0.0 4.10763E-06
21559 1 A/G 1 rs1191282845 0.1878 None gnomAD-3.1.2 1.32E-05
21559 1 A/G 1 rs1191282845 0.1878 None gnomAD-4.0.0 3.10028E-06
21559 1 A/T 1 rs1182073050 0.1878 None gnomAD-2.1.1 3.19E-05
21559 1 A/T 1 rs1182073050 0.1878 None gnomAD-3.1.2 6.58E-06
21559 1 A/T 1 rs1182073050 0.1878 None gnomAD-4.0.0 6.5767E-06
21559 1 A/V 1 None 0.1878 None gnomAD-4.0.0 2.05381E-06
21561 3 G/S 3 rs200355808 0.2255 None gnomAD-2.1.1 4.67E-05
21561 3 G/S 3 rs200355808 0.2255 None gnomAD-3.1.2 5.27E-05
21561 3 G/S 3 rs200355808 0.2255 None 1000 genomes 3.99361E-04
21561 3 G/S 3 rs200355808 0.2255 None gnomAD-4.0.0 3.78214E-05
21561 3 G/V 3 rs111829923 0.2255 None gnomAD-2.1.1 1.22E-05
21561 3 G/V 3 rs111829923 0.2255 None gnomAD-3.1.2 1.32E-05
21561 3 G/V 3 rs111829923 0.2255 None gnomAD-4.0.0 1.17795E-05
21562 4 P/L 4 None 0.3934 None gnomAD-4.0.0 6.84508E-07
21562 4 P/R 4 rs1213776805 0.3934 None gnomAD-3.1.2 6.57E-06
21562 4 P/R 4 rs1213776805 0.3934 None gnomAD-4.0.0 6.57497E-06
21563 5 P/A 5 rs72646860 0.0902 None gnomAD-2.1.1 2.16E-05
21563 5 P/A 5 rs72646860 0.0902 None gnomAD-3.1.2 3.29E-05
21563 5 P/A 5 rs72646860 0.0902 None gnomAD-4.0.0 1.36389E-05
21563 5 P/H 5 rs751700216 0.0902 None gnomAD-2.1.1 4.05E-06
21563 5 P/H 5 rs751700216 0.0902 None gnomAD-4.0.0 6.84533E-07
21563 5 P/L 5 rs751700216 0.0902 None gnomAD-2.1.1 3.19E-05
21563 5 P/L 5 rs751700216 0.0902 None gnomAD-3.1.2 6.57E-06
21563 5 P/L 5 rs751700216 0.0902 None gnomAD-4.0.0 6.57367E-06
21563 5 P/R 5 None 0.0902 None gnomAD-2.1.1 8.1E-06
21563 5 P/R 5 None 0.0902 None gnomAD-4.0.0 2.0536E-06
21563 5 P/T 5 None 0.0902 None gnomAD-2.1.1 3.19E-05
21563 5 P/T 5 None 0.0902 None gnomAD-4.0.0 3.42249E-06
21564 6 Q/L 6 None 0.2145 None gnomAD-4.0.0 1.20032E-06
21565 7 P/T 7 rs780636947 0.4838 None gnomAD-2.1.1 4.05E-06
21565 7 P/T 7 rs780636947 0.4838 None gnomAD-3.1.2 6.57E-06
21567 9 F/S 9 None 0.1221 None gnomAD-4.0.0 1.59249E-06
21569 11 I/V 12 None 0.2469 None gnomAD-4.0.0 1.59246E-06
21571 13 D/N 14 rs750771623 0.5486 None gnomAD-2.1.1 4.04E-06
21571 13 D/N 14 rs750771623 0.5486 None gnomAD-4.0.0 4.77737E-06
21572 14 I/T 15 rs765749707 0.2929 None gnomAD-2.1.1 1.79E-05
21572 14 I/T 15 rs765749707 0.2929 None gnomAD-3.1.2 2.63E-05
21572 14 I/T 15 rs765749707 0.2929 None gnomAD-4.0.0 9.91821E-06
21572 14 I/V 15 None 0.2929 None gnomAD-4.0.0 3.60097E-06
21573 15 D/E 16 rs727504967 0.2541 None gnomAD-2.1.1 4.04E-06
21573 15 D/E 16 rs727504967 0.2541 None gnomAD-4.0.0 6.84424E-07
21573 15 D/H 16 rs760347376 0.2541 None gnomAD-2.1.1 4.04E-06
21573 15 D/H 16 rs760347376 0.2541 None gnomAD-4.0.0 6.36955E-06
21574 16 A/T 17 rs578085621 0.1622 None gnomAD-2.1.1 9.32E-05
21574 16 A/T 17 rs578085621 0.1622 None gnomAD-3.1.2 2.63E-05
21574 16 A/T 17 rs578085621 0.1622 None 1000 genomes 1.99681E-04
21574 16 A/T 17 rs578085621 0.1622 None gnomAD-4.0.0 3.03749E-05
21575 17 D/N 18 rs1410308363 0.4786 None gnomAD-2.1.1 4.04E-06
21575 17 D/N 18 rs1410308363 0.4786 None gnomAD-4.0.0 4.7908E-06
21577 19 C/W 20 None 0.0794 None gnomAD-4.0.0 6.84407E-07
21578 20 S/C 21 None 0.1481 None gnomAD-4.0.0 1.59234E-06
21578 20 S/P 21 None 0.1481 None gnomAD-4.0.0 1.59231E-06
21580 22 S/L 23 None 0.2669 None gnomAD-4.0.0 6.84394E-07
21581 23 W/R 24 rs1455212617 0.0971 None gnomAD-2.1.1 4.03E-06
21581 23 W/R 24 rs1455212617 0.0971 None gnomAD-4.0.0 1.11459E-05
21582 24 H/R 25 rs770805220 0.5472 None gnomAD-2.1.1 4.03E-06
21582 24 H/R 25 rs770805220 0.5472 None gnomAD-4.0.0 1.59222E-06
21584 26 P/S 27 rs762924797 0.1374 None gnomAD-2.1.1 4.03E-06
21584 26 P/S 27 rs762924797 0.1374 None gnomAD-4.0.0 1.59223E-06
21584 26 P/T 27 rs762924797 0.1374 None gnomAD-4.0.0 1.59223E-06
21585 27 L/M 28 rs772957708 0.9196 None gnomAD-2.1.1 4.03E-06
21586 28 E/A 29 rs2048580704 0.6727 None gnomAD-4.0.0 3.1844E-06
21587 29 D/G 30 None 0.3154 None gnomAD-4.0.0 1.59218E-06
21588 30 G/A 31 None 0.1200 None gnomAD-4.0.0 3.60097E-06
21588 30 G/R 31 rs181717727 0.1200 None gnomAD-2.1.1 8.65937E-04
21588 30 G/R 31 rs181717727 0.1200 None gnomAD-3.1.2 2.48E-03
21588 30 G/R 31 rs181717727 0.1200 None 1000 genomes 3.19489E-03
21588 30 G/R 31 rs181717727 0.1200 None gnomAD-4.0.0 6.17981E-04
21590 32 S/G 33 rs768922798 0.1708 None gnomAD-2.1.1 4.03E-06
21590 32 S/G 33 rs768922798 0.1708 None gnomAD-4.0.0 1.59209E-06
21590 32 S/N 33 rs972890341 0.1708 None gnomAD-2.1.1 8.06E-06
21590 32 S/N 33 rs972890341 0.1708 None gnomAD-4.0.0 4.10619E-06
21591 33 N/Y 34 None 0.9242 None gnomAD-4.0.0 1.20032E-06
21592 34 I/F 35 rs727503581 0.2220 None gnomAD-2.1.1 4.03E-06
21592 34 I/F 35 rs727503581 0.2220 None gnomAD-4.0.0 6.84358E-07
21592 34 I/N 35 None 0.2220 None gnomAD-4.0.0 1.20032E-06
21592 34 I/V 35 rs727503581 0.2220 None gnomAD-2.1.1 1.61E-05
21592 34 I/V 35 rs727503581 0.2220 None gnomAD-4.0.0 8.21229E-06
21593 35 T/I 36 None 0.3592 None gnomAD-4.0.0 2.40064E-06
21593 35 T/P 36 rs745369313 0.3592 None gnomAD-2.1.1 8.06E-06
21593 35 T/P 36 rs745369313 0.3592 None gnomAD-4.0.0 8.89661E-06
21594 36 N/K 37 None 0.2547 None gnomAD-4.0.0 1.20032E-06
21595 37 Y/C 38 rs2048575709 0.1015 None gnomAD-3.1.2 6.58E-06
21595 37 Y/C 38 rs2048575709 0.1015 None gnomAD-4.0.0 6.58155E-06
21596 38 I/R 39 None 0.2212 None gnomAD-4.0.0 6.84363E-07
21596 38 I/T 39 rs779333272 0.2212 None gnomAD-2.1.1 4.03E-06
21596 38 I/T 39 rs779333272 0.2212 None gnomAD-4.0.0 6.84363E-07
21597 39 V/A 40 rs1374577570 0.0950 None gnomAD-2.1.1 4.03E-06
21597 39 V/A 40 rs1374577570 0.0950 None gnomAD-4.0.0 1.59207E-06
21597 39 V/E 40 None 0.0950 None gnomAD-4.0.0 1.59207E-06
21597 39 V/L 40 rs150661999 0.0950 None gnomAD-2.1.1 4.03E-06
21597 39 V/L 40 rs150661999 0.0950 None gnomAD-4.0.0 6.8436E-07
21597 39 V/M 40 rs150661999 0.0950 None gnomAD-2.1.1 3.40481E-03
21597 39 V/M 40 rs150661999 0.0950 None gnomAD-3.1.2 1.76969E-03
21597 39 V/M 40 rs150661999 0.0950 None 1000 genomes 5.99042E-03
21597 39 V/M 40 rs150661999 0.0950 None gnomAD-4.0.0 2.18863E-03
21598 40 E/G 41 rs1310732379 0.1339 None gnomAD-2.1.1 4.03E-06
21598 40 E/G 41 rs1310732379 0.1339 None gnomAD-4.0.0 1.59205E-06
21598 40 E/K 41 None 0.1339 None gnomAD-4.0.0 1.59205E-06
21599 41 K/R 42 None 0.2175 None gnomAD-4.0.0 1.59204E-06
21600 42 C/R 43 rs1436243584 0.0813 None gnomAD-2.1.1 4.03E-06
21600 42 C/R 43 rs1436243584 0.0813 None gnomAD-4.0.0 1.36869E-06
21602 44 V/I 50 None 0.3131 None gnomAD-4.0.0 6.84345E-07
21602 44 V/L 50 rs2048571659 0.3131 None gnomAD-4.0.0 4.10606E-06
21603 45 S/C 54 None 0.4868 None gnomAD-4.0.0 1.59195E-06
21604 46 R/G 60 rs767011515 0.7111 None gnomAD-2.1.1 8.05E-06
21604 46 R/G 60 rs767011515 0.7111 None gnomAD-4.0.0 1.36869E-06
21604 46 R/P 60 rs188996850 0.7111 None gnomAD-4.0.0 1.36868E-06
21604 46 R/Q 60 rs188996850 0.7111 None gnomAD-2.1.1 1.07279E-04
21604 46 R/Q 60 rs188996850 0.7111 None gnomAD-3.1.2 2.56643E-04
21604 46 R/Q 60 rs188996850 0.7111 None 1000 genomes 5.99042E-04
21604 46 R/Q 60 rs188996850 0.7111 None gnomAD-4.0.0 5.95039E-05
21605 47 G/D 63 rs1553632971 0.4231 None gnomAD-4.0.0 2.40064E-06
21606 48 D/H 64 rs751046367 0.5174 None gnomAD-2.1.1 7.65E-05
21606 48 D/H 64 rs751046367 0.5174 None gnomAD-3.1.2 3.29E-05
21606 48 D/H 64 rs751046367 0.5174 None gnomAD-4.0.0 2.60341E-05
21607 49 W/C 65 None 0.3110 None gnomAD-4.0.0 1.59198E-06
21608 50 V/I 66 None 0.4898 None gnomAD-4.0.0 1.59195E-06
21609 51 T/A 67 None 0.4185 None gnomAD-4.0.0 1.20032E-06
21609 51 T/M 67 rs765913263 0.4185 None gnomAD-2.1.1 1.79E-05
21609 51 T/M 67 rs765913263 0.4185 None gnomAD-3.1.2 1.32E-05
21609 51 T/M 67 rs765913263 0.4185 None gnomAD-4.0.0 1.23974E-05
21612 54 A/G 70 rs535324559 0.5414 None gnomAD-2.1.1 4.03E-06
21612 54 A/G 70 rs535324559 0.5414 None gnomAD-3.1.2 6.58E-06
21612 54 A/G 70 rs535324559 0.5414 None 1000 genomes 1.99681E-04
21612 54 A/G 70 rs535324559 0.5414 None gnomAD-4.0.0 6.57445E-06
21612 54 A/V 70 rs535324559 0.5414 None gnomAD-2.1.1 4.03E-06
21612 54 A/V 70 rs535324559 0.5414 None gnomAD-4.0.0 1.5919E-06
21614 56 V/F 77 rs1255799944 0.1317 None gnomAD-2.1.1 4.03E-06
21614 56 V/F 77 rs1255799944 0.1317 None gnomAD-4.0.0 1.36865E-06
21615 57 T/I 83 None 0.6969 None gnomAD-4.0.0 3.60097E-06
21616 58 K/E 88 rs761445537 0.7639 None gnomAD-2.1.1 8.05E-06
21616 58 K/E 88 rs761445537 0.7639 None gnomAD-3.1.2 6.58E-06
21616 58 K/E 88 rs761445537 0.7639 None gnomAD-4.0.0 8.97105E-06
21617 59 T/I 89 rs1455243319 0.2187 None gnomAD-2.1.1 3.19E-05
21617 59 T/I 89 rs1455243319 0.2187 None gnomAD-3.1.2 6.58E-06
21617 59 T/I 89 rs1455243319 0.2187 None gnomAD-4.0.0 6.57704E-06
21619 61 C/R 91 rs1486149342 0.1530 None gnomAD-2.1.1 4.03E-06
21619 61 C/R 91 rs1486149342 0.1530 None gnomAD-4.0.0 1.59185E-06
21619 61 C/W 91 None 0.1530 None gnomAD-4.0.0 1.59185E-06
21620 62 R/K 92 rs776516784 0.3306 None gnomAD-2.1.1 2.42E-05
21620 62 R/K 92 rs776516784 0.3306 None gnomAD-4.0.0 9.55122E-06
21620 62 R/S 92 rs373713828 0.3306 None gnomAD-2.1.1 8.05E-06
21620 62 R/S 92 rs373713828 0.3306 None gnomAD-3.1.2 6.58E-06
21620 62 R/S 92 rs373713828 0.3306 None gnomAD-4.0.0 6.84321E-07
21621 63 V/A 93 None 0.1750 None gnomAD-4.0.0 1.59185E-06
21621 63 V/F 93 None 0.1750 None gnomAD-4.0.0 6.00161E-06
21624 66 L/P 97 rs2048563467 0.0994 None gnomAD-3.1.2 6.57E-06
21624 66 L/P 97 rs2048563467 0.0994 None gnomAD-4.0.0 6.57445E-06
21625 67 I/N 98 None 0.4845 None gnomAD-4.0.0 2.05297E-06
21625 67 I/T 98 rs1318752166 0.4845 None gnomAD-2.1.1 4.02E-06
21625 67 I/T 98 rs1318752166 0.4845 None gnomAD-4.0.0 6.84322E-07
21626 68 P/L 99 None 0.4643 None gnomAD-4.0.0 1.20032E-06
21626 68 P/T 99 rs2048562251 0.4643 None gnomAD-3.1.2 6.58E-06
21626 68 P/T 99 rs2048562251 0.4643 None gnomAD-4.0.0 6.57739E-06
21627 69 G/V 100 rs2154180072 0.4047 None gnomAD-4.0.0 2.05299E-06
21628 70 Q/H 102 rs772347925 0.2448 None gnomAD-4.0.0 1.36865E-06
21628 70 Q/R 102 None 0.2448 None gnomAD-4.0.0 5.4746E-06
21629 71 E/A 103 None 0.2620 None gnomAD-4.0.0 1.59189E-06
21629 71 E/D 103 rs779232091 0.2620 None gnomAD-2.1.1 7.15E-06
21629 71 E/D 103 rs779232091 0.2620 None gnomAD-3.1.2 1.32E-05
21629 71 E/D 103 rs779232091 0.2620 None gnomAD-4.0.0 3.84484E-06
21629 71 E/K 103 rs746364765 0.2620 None gnomAD-2.1.1 6.07E-05
21629 71 E/K 103 rs746364765 0.2620 None gnomAD-3.1.2 3.29E-05
21629 71 E/K 103 rs746364765 0.2620 None gnomAD-4.0.0 1.79749E-05
21631 73 I/L 105 rs757787828 0.1881 None gnomAD-4.0.0 3.4216E-06
21631 73 I/M 105 None 0.1881 None gnomAD-4.0.0 1.59187E-06
21631 73 I/V 105 None 0.1881 None gnomAD-4.0.0 2.05296E-06
21632 74 F/C 106 None 0.0968 None gnomAD-4.0.0 1.59188E-06
21632 74 F/V 106 None 0.0968 None gnomAD-4.0.0 1.59186E-06
21633 75 R/Q 107 rs141965360 0.1146 None gnomAD-2.1.1 1.07196E-04
21633 75 R/Q 107 rs141965360 0.1146 None gnomAD-3.1.2 1.51272E-04
21633 75 R/Q 107 rs141965360 0.1146 None 1000 genomes 3.99361E-04
21633 75 R/Q 107 rs141965360 0.1146 None gnomAD-4.0.0 6.25987E-05
21633 75 R/W 107 rs749576292 0.1146 None gnomAD-2.1.1 7.15E-06
21633 75 R/W 107 rs749576292 0.1146 None gnomAD-3.1.2 1.32E-05
21633 75 R/W 107 rs749576292 0.1146 None gnomAD-4.0.0 6.19837E-06
21634 76 V/I 108 rs1191272248 0.0564 None gnomAD-3.1.2 6.58E-06
21634 76 V/I 108 rs1191272248 0.0564 None gnomAD-4.0.0 2.56327E-06
21635 77 R/C 109 rs201614524 0.1472 None gnomAD-2.1.1 6.07E-05
21635 77 R/C 109 rs201614524 0.1472 None gnomAD-3.1.2 4.6E-05
21635 77 R/C 109 rs201614524 0.1472 None gnomAD-4.0.0 1.79751E-05
21635 77 R/H 109 rs756768598 0.1472 None gnomAD-2.1.1 1.61E-05
21635 77 R/H 109 rs756768598 0.1472 None gnomAD-4.0.0 2.53201E-05
21636 78 A/G 110 None 0.0741 None gnomAD-4.0.0 1.59192E-06
21636 78 A/T 110 rs765859586 0.0741 None gnomAD-2.1.1 8.05E-06
21636 78 A/T 110 rs765859586 0.0741 None gnomAD-4.0.0 1.59193E-06
21638 80 N/D 112 rs757843701 0.0872 None gnomAD-2.1.1 4.02E-06
21638 80 N/D 112 rs757843701 0.0872 None gnomAD-3.1.2 6.58E-06
21638 80 N/D 112 rs757843701 0.0872 None gnomAD-4.0.0 4.95873E-06
21638 80 N/K 112 None 0.0872 None gnomAD-4.0.0 1.59192E-06
21639 81 R/G 113 rs1432889079 0.5276 None gnomAD-4.0.0 2.053E-06
21639 81 R/Q 113 rs373282633 0.5276 None gnomAD-2.1.1 3.22E-05
21639 81 R/Q 113 rs373282633 0.5276 None gnomAD-3.1.2 1.97E-05
21639 81 R/Q 113 rs373282633 0.5276 None gnomAD-4.0.0 4.40076E-05
21640 82 F/S 114 rs1475736042 0.2867 None gnomAD-4.0.0 6.84326E-07
21640 82 F/Y 114 rs1475736042 0.2867 None gnomAD-2.1.1 1.61E-05
21640 82 F/Y 114 rs1475736042 0.2867 None gnomAD-3.1.2 6.58E-06
21640 82 F/Y 114 rs1475736042 0.2867 None gnomAD-4.0.0 4.33875E-06
21644 86 E/K 119 None 0.6117 None gnomAD-4.0.0 2.053E-06
21645 87 P/L 120 None 0.2834 None gnomAD-4.0.0 1.20032E-06
21645 87 P/S 120 rs1553632774 0.2834 None gnomAD-3.1.2 6.58E-06
21645 87 P/S 120 rs1553632774 0.2834 None gnomAD-4.0.0 2.03023E-06
21646 88 L/F 121 rs1203566511 0.1377 None gnomAD-4.0.0 1.59196E-06
21648 90 S/A 123 rs765042066 0.1267 None gnomAD-2.1.1 4.03E-06
21648 90 S/A 123 rs765042066 0.1267 None gnomAD-4.0.0 1.59195E-06
21648 90 S/F 123 rs761835878 0.1267 None gnomAD-4.0.0 3.18386E-06
21649 91 P/L 124 rs1220907025 0.5685 None gnomAD-2.1.1 4.03E-06
21649 91 P/L 124 rs1220907025 0.5685 None gnomAD-4.0.0 1.59196E-06
21650 92 K/E 126 rs2048550217 0.4451 None gnomAD-4.0.0 1.59198E-06
21651 93 M/R 127 rs2048549278 0.1278 None gnomAD-3.1.2 6.58E-06
21651 93 M/R 127 rs2048549278 0.1278 None gnomAD-4.0.0 6.57635E-06
21651 93 M/T 127 rs2048549278 0.1278 None gnomAD-4.0.0 1.36869E-06
21652 94 V/A 128 rs1386324100 0.3903 None gnomAD-4.0.0 1.20032E-06
21653 95 A/P 130 rs2048548013 0.0764 None gnomAD-3.1.2 6.58E-06
21653 95 A/P 130 rs2048548013 0.0764 None gnomAD-4.0.0 1.23971E-06
21653 95 A/T 130 None 0.0764 None gnomAD-4.0.0 6.84356E-07
21653 95 A/V 130 rs1334145229 0.0764 None gnomAD-2.1.1 1.21E-05
21653 95 A/V 130 rs1334145229 0.0764 None gnomAD-4.0.0 7.52804E-06
21654 96 Q/R 132 rs555785232 0.6606 None gnomAD-2.1.1 4.03E-06
21654 96 Q/R 132 rs555785232 0.6606 None gnomAD-3.1.2 6.58E-06
21654 96 Q/R 132 rs555785232 0.6606 None 1000 genomes 1.99681E-04
21654 96 Q/R 132 rs555785232 0.6606 None gnomAD-4.0.0 2.02989E-06