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

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
16352 2 P/T 2 rs2056897383 0.1309 None gnomAD-4.0.0 1.59449E-06
16353 3 G/R 3 rs374866935 0.2666 None gnomAD-2.1.1 2.44E-05
16353 3 G/R 3 rs374866935 0.2666 None gnomAD-3.1.2 3.3E-05
16353 3 G/R 3 rs374866935 0.2666 None gnomAD-4.0.0 3.22601E-05
16353 3 G/V 3 None 0.2666 None gnomAD-4.0.0 2.40064E-06
16354 4 P/S 4 rs747402071 0.4564 None gnomAD-2.1.1 3.6E-05
16354 4 P/S 4 rs747402071 0.4564 None gnomAD-3.1.2 1.32E-05
16354 4 P/S 4 rs747402071 0.4564 None gnomAD-4.0.0 4.71404E-05
16355 5 P/S 5 rs762930123 0.1327 None gnomAD-2.1.1 4.05E-06
16355 5 P/S 5 rs762930123 0.1327 None gnomAD-4.0.0 2.73867E-06
16355 5 P/T 5 rs762930123 0.1327 None gnomAD-3.1.2 6.59E-06
16355 5 P/T 5 rs762930123 0.1327 None gnomAD-4.0.0 1.86064E-06
16357 7 A/S 7 rs773210401 0.5035 None gnomAD-2.1.1 4.05E-06
16357 7 A/S 7 rs773210401 0.5035 None gnomAD-4.0.0 1.59361E-06
16357 7 A/V 7 rs199768159 0.5035 None gnomAD-2.1.1 2.52E-05
16357 7 A/V 7 rs199768159 0.5035 None gnomAD-3.1.2 7.9E-05
16357 7 A/V 7 rs199768159 0.5035 None gnomAD-4.0.0 1.7365E-05
16358 8 F/L 9 rs2056894015 0.1939 None gnomAD-3.1.2 6.58E-06
16358 8 F/L 9 rs2056894015 0.1939 None gnomAD-4.0.0 6.58155E-06
16358 8 F/S 9 rs556089848 0.1939 None gnomAD-2.1.1 1.21E-05
16358 8 F/S 9 rs556089848 0.1939 None gnomAD-3.1.2 6.58E-06
16358 8 F/S 9 rs556089848 0.1939 None 1000 genomes 1.99681E-04
16358 8 F/S 9 rs556089848 0.1939 None gnomAD-4.0.0 6.41346E-06
16360 10 I/F 12 None 0.1982 None gnomAD-4.0.0 6.84612E-07
16360 10 I/L 12 None 0.1982 None gnomAD-4.0.0 6.84612E-07
16361 11 T/I 13 None 0.3771 None gnomAD-4.0.0 6.84597E-07
16361 11 T/R 13 rs2056892277 0.3771 None gnomAD-4.0.0 6.84597E-07
16362 12 D/A 14 rs1380942594 0.6233 None gnomAD-3.1.2 6.58E-06
16362 12 D/A 14 rs1380942594 0.6233 None gnomAD-4.0.0 2.03042E-06
16362 12 D/E 14 None 0.6233 None gnomAD-4.0.0 6.8459E-07
16362 12 D/V 14 None 0.6233 None gnomAD-4.0.0 1.20032E-06
16363 13 V/A 15 rs369266863 0.1736 None gnomAD-2.1.1 1.08E-05
16363 13 V/A 15 rs369266863 0.1736 None gnomAD-3.1.2 2.63E-05
16363 13 V/A 15 rs369266863 0.1736 None gnomAD-4.0.0 2.63397E-05
16363 13 V/I 15 rs776691941 0.1736 None gnomAD-2.1.1 4.05E-06
16363 13 V/I 15 rs776691941 0.1736 None gnomAD-4.0.0 1.59333E-06
16364 14 T/I 16 rs1159477728 0.1843 None gnomAD-2.1.1 4.04E-06
16364 14 T/I 16 rs1159477728 0.1843 None gnomAD-4.0.0 1.59324E-06
16364 14 T/N 16 rs1159477728 0.1843 None gnomAD-4.0.0 1.59324E-06
16365 15 N/S 17 rs1424335711 0.2533 None gnomAD-4.0.0 6.84568E-06
16366 16 E/A 18 None 0.5622 None gnomAD-4.0.0 5.47649E-06
16367 17 S/L 19 None 0.1798 None gnomAD-4.0.0 3.18638E-06
16368 18 C/R 20 rs747260539 0.0985 None gnomAD-2.1.1 8.08E-06
16368 18 C/R 20 rs747260539 0.0985 None gnomAD-4.0.0 5.47647E-06
16369 19 L/I 21 None 0.2860 None gnomAD-4.0.0 1.59318E-06
16369 19 L/P 21 None 0.2860 None gnomAD-4.0.0 1.59316E-06
16370 20 L/P 22 None 0.0782 None gnomAD-4.0.0 1.59322E-06
16371 21 T/I 23 None 0.2783 None gnomAD-4.0.0 1.20032E-06
16371 21 T/R 23 None 0.2783 None gnomAD-4.0.0 1.20032E-06
16374 24 P/S 26 None 0.4802 None gnomAD-4.0.0 1.59331E-06
16375 25 P/L 27 None 0.1779 None gnomAD-4.0.0 2.73838E-06
16375 25 P/Q 27 rs1256813746 0.1779 None gnomAD-4.0.0 2.05378E-06
16375 25 P/R 27 rs1256813746 0.1779 None gnomAD-2.1.1 4.04E-06
16375 25 P/R 27 rs1256813746 0.1779 None gnomAD-4.0.0 6.84594E-07
16375 25 P/S 27 rs1424436024 0.1779 None gnomAD-2.1.1 4.04E-06
16376 26 R/C 28 rs772152172 1.0334 None gnomAD-2.1.1 3.59E-05
16376 26 R/C 28 rs772152172 1.0334 None gnomAD-3.1.2 6.59E-06
16376 26 R/C 28 rs772152172 1.0334 None gnomAD-4.0.0 1.79842E-05
16376 26 R/H 28 rs746306518 1.0334 None gnomAD-2.1.1 4.04E-06
16376 26 R/H 28 rs746306518 1.0334 None gnomAD-4.0.0 1.43767E-05
16377 27 D/H 29 rs757542062 0.6561 None gnomAD-2.1.1 4.04E-06
16377 27 D/H 29 rs757542062 0.6561 None gnomAD-4.0.0 6.84613E-07
16377 27 D/N 29 rs757542062 0.6561 None gnomAD-2.1.1 1.79E-05
16377 27 D/N 29 rs757542062 0.6561 None gnomAD-3.1.2 3.29E-05
16377 27 D/N 29 rs757542062 0.6561 None gnomAD-4.0.0 1.79846E-05
16378 28 D/N 30 rs376610251 0.2982 None gnomAD-3.1.2 1.32E-05
16378 28 D/N 30 rs376610251 0.2982 None gnomAD-4.0.0 3.72079E-06
16378 28 D/Y 30 None 0.2982 None gnomAD-4.0.0 6.84615E-07
16379 29 G/D 31 rs1355270834 0.3308 None gnomAD-2.1.1 4.04E-06
16379 29 G/D 31 rs1355270834 0.3308 None gnomAD-4.0.0 2.05382E-06
16381 31 S/P 33 None 0.2077 None gnomAD-4.0.0 6.84619E-07
16381 31 S/T 33 None 0.2077 None gnomAD-4.0.0 6.84619E-07
16382 32 K/R 34 None 0.9607 None gnomAD-4.0.0 2.73848E-06
16384 34 T/P 36 rs1559808274 0.3884 None gnomAD-2.1.1 4.04E-06
16384 34 T/P 36 rs1559808274 0.3884 None gnomAD-4.0.0 1.59351E-06
16385 35 N/D 37 None 0.1645 None gnomAD-4.0.0 1.59351E-06
16385 35 N/I 37 rs778033610 0.1645 None gnomAD-2.1.1 4.04E-06
16385 35 N/I 37 rs778033610 0.1645 None gnomAD-4.0.0 1.59352E-06
16386 36 Y/C 38 rs190721620 0.1185 None gnomAD-2.1.1 8.08E-06
16386 36 Y/C 38 rs190721620 0.1185 None gnomAD-3.1.2 1.32E-05
16386 36 Y/C 38 rs190721620 0.1185 None 1000 genomes 1.99681E-04
16386 36 Y/C 38 rs190721620 0.1185 None gnomAD-4.0.0 6.82135E-06
16386 36 Y/H 38 rs754631165 0.1185 None gnomAD-2.1.1 4.04E-06
16386 36 Y/H 38 rs754631165 0.1185 None gnomAD-4.0.0 1.59358E-06
16387 37 V/A 39 rs765925142 0.1934 None gnomAD-2.1.1 4.04E-06
16387 37 V/A 39 rs765925142 0.1934 None gnomAD-4.0.0 1.59357E-06
16388 38 V/M 40 rs1299253449 0.0838 None gnomAD-2.1.1 4.04E-06
16388 38 V/M 40 rs1299253449 0.0838 None gnomAD-3.1.2 6.59E-06
16388 38 V/M 40 rs1299253449 0.0838 None gnomAD-4.0.0 2.56641E-06
16389 39 E/D 41 rs1386540651 0.1435 None gnomAD-2.1.1 4.04E-06
16389 39 E/D 41 rs1386540651 0.1435 None gnomAD-4.0.0 1.36931E-06
16389 39 E/K 41 rs2154201588 0.1435 None gnomAD-4.0.0 4.10788E-06
16391 41 R/Q 43 rs200944827 0.1879 None gnomAD-2.1.1 1.29208E-04
16391 41 R/Q 43 rs200944827 0.1879 None gnomAD-3.1.2 1.31737E-04
16391 41 R/Q 43 rs200944827 0.1879 None gnomAD-4.0.0 1.60631E-04
16392 42 A/E 44 rs750310775 0.1208 None gnomAD-2.1.1 4.04E-06
16392 42 A/E 44 rs750310775 0.1208 None gnomAD-4.0.0 1.30084E-05
16392 42 A/T 44 rs794729446 0.1208 None gnomAD-4.0.0 1.59368E-06
16394 44 D/N 54 rs765265590 0.6942 None gnomAD-2.1.1 8.08E-06
16394 44 D/N 54 rs765265590 0.6942 None gnomAD-4.0.0 3.18734E-06
16396 46 E/K 63 None 0.9464 None gnomAD-4.0.0 1.20032E-06
16397 47 V/G 64 rs761480322 0.5599 None gnomAD-2.1.1 4.04E-06
16397 47 V/G 64 rs761480322 0.5599 None gnomAD-3.1.2 6.59E-06
16397 47 V/G 64 rs761480322 0.5599 None gnomAD-4.0.0 5.13209E-06
16397 47 V/L 64 None 0.5599 None gnomAD-4.0.0 3.18733E-06
16397 47 V/M 64 rs397517595 0.5599 None gnomAD-3.1.2 6.59E-06
16397 47 V/M 64 rs397517595 0.5599 None gnomAD-4.0.0 6.58553E-06
16399 49 H/Q 66 rs550330154 0.5690 None gnomAD-3.1.2 1.32E-05
16399 49 H/Q 66 rs550330154 0.5690 None 1000 genomes 1.99681E-04
16399 49 H/Q 66 rs550330154 0.5690 None gnomAD-4.0.0 3.10083E-06
16399 49 H/Y 66 rs1194172632 0.5690 None gnomAD-2.1.1 4.04E-06
16399 49 H/Y 66 rs1194172632 0.5690 None gnomAD-3.1.2 6.59E-06
16399 49 H/Y 66 rs1194172632 0.5690 None gnomAD-4.0.0 6.41662E-06
16401 51 L/R 68 None 0.2631 None gnomAD-4.0.0 1.20032E-06
16401 51 L/V 68 rs794729447 0.2631 None gnomAD-3.1.2 6.59E-06
16401 51 L/V 68 rs794729447 0.2631 None gnomAD-4.0.0 6.59031E-06
16402 52 S/L 69 rs772357820 0.1790 None gnomAD-2.1.1 1.62E-05
16402 52 S/L 69 rs772357820 0.1790 None gnomAD-3.1.2 6.59E-06
16402 52 S/L 69 rs772357820 0.1790 None gnomAD-4.0.0 2.23273E-05
16402 52 S/P 69 rs1413819642 0.1790 None gnomAD-3.1.2 6.59E-06
16402 52 S/P 69 rs1413819642 0.1790 None gnomAD-4.0.0 6.58631E-06
16403 53 S/P 70 rs746009199 0.4697 None gnomAD-2.1.1 4.04E-06
16403 53 S/P 70 rs746009199 0.4697 None gnomAD-3.1.2 2.64E-05
16403 53 S/P 70 rs746009199 0.4697 None gnomAD-4.0.0 6.4169E-06
16403 53 S/T 70 rs746009199 0.4697 None gnomAD-2.1.1 4.04E-06
16403 53 S/Y 70 rs774691242 0.4697 None gnomAD-2.1.1 1.08E-05
16403 53 S/Y 70 rs774691242 0.4697 None gnomAD-3.1.2 6.59E-06
16403 53 S/Y 70 rs774691242 0.4697 None gnomAD-4.0.0 6.41682E-06
16405 55 V/I 77 rs570644860 0.1158 None gnomAD-2.1.1 3.23E-05
16405 55 V/I 77 rs570644860 0.1158 None gnomAD-3.1.2 1.98E-05
16405 55 V/I 77 rs570644860 0.1158 None 1000 genomes 1.99681E-04
16405 55 V/I 77 rs570644860 0.1158 None gnomAD-4.0.0 2.85289E-05
16406 56 K/R 83 None 0.7855 None gnomAD-4.0.0 1.59385E-06
16407 57 D/Y 88 None 0.6952 None gnomAD-4.0.0 1.20032E-06
16409 59 N/D 90 rs1315841408 0.4390 None gnomAD-2.1.1 3.19E-05
16409 59 N/D 90 rs1315841408 0.4390 None gnomAD-3.1.2 6.59E-06
16409 59 N/D 90 rs1315841408 0.4390 None gnomAD-4.0.0 2.5665E-06
16409 59 N/I 90 rs2056864818 0.4390 None gnomAD-4.0.0 1.59385E-06
16409 59 N/K 90 rs2056864466 0.4390 None gnomAD-4.0.0 1.59385E-06
16411 61 K/R 92 None 0.5626 None gnomAD-4.0.0 1.59395E-06
16412 62 A/G 93 rs746659077 0.1029 None gnomAD-2.1.1 2.83E-05
16412 62 A/G 93 rs746659077 0.1029 None gnomAD-3.1.2 3.29E-05
16412 62 A/G 93 rs746659077 0.1029 None gnomAD-4.0.0 1.11642E-05
16412 62 A/V 93 rs746659077 0.1029 None gnomAD-2.1.1 4.04E-06
16412 62 A/V 93 rs746659077 0.1029 None gnomAD-4.0.0 1.02705E-05
16413 63 T/I 94 None 0.4524 None gnomAD-4.0.0 1.59389E-06
16413 63 T/N 94 None 0.4524 None gnomAD-4.0.0 1.59389E-06
16414 64 K/R 96 rs1329659749 0.8698 None gnomAD-2.1.1 4.04E-06
16414 64 K/R 96 rs1329659749 0.8698 None gnomAD-4.0.0 2.73877E-06
16415 65 L/F 97 rs779906601 0.1110 None gnomAD-2.1.1 4.04E-06
16415 65 L/F 97 rs779906601 0.1110 None gnomAD-4.0.0 1.59387E-06
16417 67 P/R 99 rs1387631926 0.3735 None gnomAD-2.1.1 4.04E-06
16417 67 P/R 99 rs1387631926 0.3735 None gnomAD-4.0.0 1.59407E-06
16417 67 P/S 99 None 0.3735 None gnomAD-4.0.0 1.20032E-06
16418 68 N/K 100 rs749986997 0.7994 None gnomAD-2.1.1 4.04E-06
16418 68 N/K 100 rs749986997 0.7994 None gnomAD-4.0.0 1.59401E-06
16418 68 N/S 100 rs757956453 0.7994 None gnomAD-2.1.1 4.04E-06
16418 68 N/S 100 rs757956453 0.7994 None gnomAD-4.0.0 1.36944E-06
16420 70 E/D 103 rs2056859473 0.4207 None gnomAD-3.1.2 6.59E-06
16420 70 E/D 103 rs2056859473 0.4207 None gnomAD-4.0.0 6.58857E-06
16420 70 E/G 103 rs1402412207 0.4207 None gnomAD-2.1.1 4.04E-06
16420 70 E/G 103 rs1402412207 0.4207 None gnomAD-4.0.0 1.59393E-06
16420 70 E/K 103 rs764682084 0.4207 None gnomAD-2.1.1 2.02E-05
16420 70 E/K 103 rs764682084 0.4207 None gnomAD-3.1.2 1.32E-05
16420 70 E/K 103 rs764682084 0.4207 None gnomAD-4.0.0 6.20235E-06
16422 72 I/N 105 None 0.1395 None gnomAD-4.0.0 6.84697E-07
16422 72 I/T 105 rs746167353 0.1395 None gnomAD-2.1.1 4.04E-06
16422 72 I/T 105 rs746167353 0.1395 None gnomAD-4.0.0 1.78021E-05
16424 74 R/K 107 None 0.1569 None gnomAD-4.0.0 1.20032E-06
16425 75 V/A 108 None 0.0669 None gnomAD-4.0.0 2.05409E-06
16427 77 A/G 110 rs794727351 0.1071 None gnomAD-4.0.0 1.91721E-05
16427 77 A/V 110 None 0.1071 None gnomAD-4.0.0 3.42359E-06
16429 79 N/D 112 None 0.1057 None gnomAD-4.0.0 1.59392E-06
16429 79 N/K 112 rs763809932 0.1057 AVB
Literature None
16430 80 M/I 113 None 0.4326 None gnomAD-4.0.0 1.20032E-06
16430 80 M/L 113 None 0.4326 None gnomAD-4.0.0 1.20032E-06
16430 80 M/T 113 rs973490041 0.4326 None gnomAD-3.1.2 1.32E-05
16430 80 M/T 113 rs973490041 0.4326 None gnomAD-4.0.0 4.06086E-06
16431 81 Y/C 114 None 0.6787 None gnomAD-4.0.0 1.20032E-06
16431 81 Y/H 114 None 0.6787 None gnomAD-4.0.0 1.36942E-06
16432 82 G/D 115 rs547225882 0.2225 None gnomAD-3.1.2 6.58E-06
16432 82 G/D 115 rs547225882 0.2225 None 1000 genomes 1.99681E-04
16432 82 G/D 115 rs547225882 0.2225 None gnomAD-4.0.0 2.5662E-06
16432 82 G/R 115 rs760530855 0.2225 None gnomAD-2.1.1 8.08E-06
16432 82 G/R 115 rs760530855 0.2225 None gnomAD-4.0.0 3.18792E-06
16432 82 G/S 115 rs760530855 0.2225 None gnomAD-2.1.1 4.04E-06
16432 82 G/S 115 rs760530855 0.2225 None gnomAD-4.0.0 9.56376E-06
16432 82 G/V 115 None 0.2225 None gnomAD-4.0.0 1.59393E-06
16433 83 V/A 117 None 0.4206 None gnomAD-4.0.0 1.20032E-06
16434 84 G/A 118 None 0.1663 None gnomAD-4.0.0 1.20032E-06
16434 84 G/C 118 rs775667867 0.1663 None gnomAD-2.1.1 4.04E-06
16434 84 G/R 118 rs775667867 0.1663 None gnomAD-3.1.2 1.32E-05
16434 84 G/R 118 rs775667867 0.1663 None gnomAD-4.0.0 1.31752E-05
16435 85 E/D 119 rs1407270484 0.7432 None gnomAD-3.1.2 6.58E-06
16435 85 E/D 119 rs1407270484 0.7432 None gnomAD-4.0.0 2.03037E-06
16435 85 E/K 119 rs886044255 0.7432 None gnomAD-4.0.0 3.42356E-06
16436 86 P/A 120 rs527592906 0.4081 None gnomAD-3.1.2 6.59E-06
16436 86 P/A 120 rs527592906 0.4081 None 1000 genomes 1.99681E-04
16436 86 P/A 120 rs527592906 0.4081 None gnomAD-4.0.0 6.58311E-06
16436 86 P/L 120 None 0.4081 None gnomAD-4.0.0 1.20032E-06
16436 86 P/Q 120 rs1438404271 0.4081 None gnomAD-3.1.2 6.59E-06
16436 86 P/Q 120 rs1438404271 0.4081 None gnomAD-4.0.0 6.58744E-06
16436 86 P/S 120 None 0.4081 None gnomAD-4.0.0 1.59392E-06
16437 87 V/D 121 rs767768313 0.1731 None gnomAD-2.1.1 2.15E-05
16437 87 V/D 121 rs767768313 0.1731 None gnomAD-3.1.2 2.63E-05
16437 87 V/D 121 rs767768313 0.1731 None gnomAD-4.0.0 3.03893E-05
16438 88 Q/L 122 None 0.4249 None gnomAD-4.0.0 1.59403E-06
16439 89 A/S 123 rs759710792 0.1873 None gnomAD-2.1.1 4.04E-06
16439 89 A/S 123 rs759710792 0.1873 None gnomAD-3.1.2 6.59E-06
16439 89 A/S 123 rs759710792 0.1873 None gnomAD-4.0.0 1.2405E-06
16439 89 A/T 123 rs759710792 0.1873 None gnomAD-2.1.1 8.08E-06
16439 89 A/T 123 rs759710792 0.1873 None gnomAD-4.0.0 1.36945E-06
16441 91 P/L 126 rs570251027 0.4859 None gnomAD-4.0.0 1.59433E-06
16442 92 I/M 127 None 0.1818 None gnomAD-4.0.0 6.84796E-07
16442 92 I/V 127 rs2056850681 0.1818 None gnomAD-4.0.0 1.20032E-06
16443 93 T/A 128 rs1200322239 0.3107 None gnomAD-2.1.1 8.09E-06
16443 93 T/A 128 rs1200322239 0.3107 None gnomAD-4.0.0 4.79359E-06
16443 93 T/I 128 None 0.3107 None gnomAD-4.0.0 1.59478E-06
16443 93 T/R 128 rs1343316485 0.3107 None gnomAD-2.1.1 4.05E-06
16443 93 T/R 128 rs1343316485 0.3107 None gnomAD-4.0.0 4.78434E-06
16444 94 A/T 130 rs1376559145 0.0734 None gnomAD-4.0.0 1.20032E-06
16445 95 K/E 131 rs1553701901 0.4880 None gnomAD-3.1.2 6.58E-06
16445 95 K/E 131 rs1553701901 0.4880 None gnomAD-4.0.0 2.56791E-06
16446 96 Y/C 132 rs2056847941 0.2674 None gnomAD-3.1.2 6.58E-06
16446 96 Y/C 132 rs2056847941 0.2674 None gnomAD-4.0.0 2.03051E-06
16446 96 Y/H 132 rs774443816 0.2674 None gnomAD-2.1.1 4.05E-06
16446 96 Y/H 132 rs774443816 0.2674 None gnomAD-4.0.0 1.36998E-06