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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16352 2 P/T 2 rs2056897383 0.1165 None gnomAD-4.0.0 1.59449E-06
16353 3 G/R 3 rs374866935 0.2598 None gnomAD-2.1.1 2.44E-05
16353 3 G/R 3 rs374866935 0.2598 None gnomAD-3.1.2 3.3E-05
16353 3 G/R 3 rs374866935 0.2598 None gnomAD-4.0.0 3.22601E-05
16353 3 G/V 3 None 0.2598 None gnomAD-4.0.0 2.40064E-06
16354 4 P/S 4 rs747402071 0.4187 None gnomAD-2.1.1 3.6E-05
16354 4 P/S 4 rs747402071 0.4187 None gnomAD-3.1.2 1.32E-05
16354 4 P/S 4 rs747402071 0.4187 None gnomAD-4.0.0 4.71404E-05
16355 5 P/S 5 rs762930123 0.1265 None gnomAD-2.1.1 4.05E-06
16355 5 P/S 5 rs762930123 0.1265 None gnomAD-4.0.0 2.73867E-06
16355 5 P/T 5 rs762930123 0.1265 None gnomAD-3.1.2 6.59E-06
16355 5 P/T 5 rs762930123 0.1265 None gnomAD-4.0.0 1.86064E-06
16357 7 A/S 7 rs773210401 0.4839 None gnomAD-2.1.1 4.05E-06
16357 7 A/S 7 rs773210401 0.4839 None gnomAD-4.0.0 1.59361E-06
16357 7 A/V 7 rs199768159 0.4839 None gnomAD-2.1.1 2.52E-05
16357 7 A/V 7 rs199768159 0.4839 None gnomAD-3.1.2 7.9E-05
16357 7 A/V 7 rs199768159 0.4839 None gnomAD-4.0.0 1.7365E-05
16358 8 F/L 9 rs2056894015 0.1938 None gnomAD-3.1.2 6.58E-06
16358 8 F/L 9 rs2056894015 0.1938 None gnomAD-4.0.0 6.58155E-06
16358 8 F/S 9 rs556089848 0.1938 None gnomAD-2.1.1 1.21E-05
16358 8 F/S 9 rs556089848 0.1938 None gnomAD-3.1.2 6.58E-06
16358 8 F/S 9 rs556089848 0.1938 None 1000 genomes 1.99681E-04
16358 8 F/S 9 rs556089848 0.1938 None gnomAD-4.0.0 6.41346E-06
16360 10 I/F 12 None 0.1981 None gnomAD-4.0.0 6.84612E-07
16360 10 I/L 12 None 0.1981 None gnomAD-4.0.0 6.84612E-07
16361 11 T/I 13 None 0.3803 None gnomAD-4.0.0 6.84597E-07
16361 11 T/R 13 rs2056892277 0.3803 None gnomAD-4.0.0 6.84597E-07
16362 12 D/A 14 rs1380942594 0.6044 None gnomAD-3.1.2 6.58E-06
16362 12 D/A 14 rs1380942594 0.6044 None gnomAD-4.0.0 2.03042E-06
16362 12 D/E 14 None 0.6044 None gnomAD-4.0.0 6.8459E-07
16362 12 D/V 14 None 0.6044 None gnomAD-4.0.0 1.20032E-06
16363 13 V/A 15 rs369266863 0.1633 None gnomAD-2.1.1 1.08E-05
16363 13 V/A 15 rs369266863 0.1633 None gnomAD-3.1.2 2.63E-05
16363 13 V/A 15 rs369266863 0.1633 None gnomAD-4.0.0 2.63397E-05
16363 13 V/I 15 rs776691941 0.1633 None gnomAD-2.1.1 4.05E-06
16363 13 V/I 15 rs776691941 0.1633 None gnomAD-4.0.0 1.59333E-06
16364 14 T/I 16 rs1159477728 0.1724 None gnomAD-2.1.1 4.04E-06
16364 14 T/I 16 rs1159477728 0.1724 None gnomAD-4.0.0 1.59324E-06
16364 14 T/N 16 rs1159477728 0.1724 None gnomAD-4.0.0 1.59324E-06
16365 15 N/S 17 rs1424335711 0.2174 None gnomAD-4.0.0 6.84568E-06
16366 16 E/A 18 None 0.5427 None gnomAD-4.0.0 5.47649E-06
16367 17 S/L 19 None 0.1624 None gnomAD-4.0.0 3.18638E-06
16368 18 C/R 20 rs747260539 0.0937 None gnomAD-2.1.1 8.08E-06
16368 18 C/R 20 rs747260539 0.0937 None gnomAD-4.0.0 5.47647E-06
16369 19 L/I 21 None 0.2572 None gnomAD-4.0.0 1.59318E-06
16369 19 L/P 21 None 0.2572 None gnomAD-4.0.0 1.59316E-06
16370 20 L/P 22 None 0.0738 None gnomAD-4.0.0 1.59322E-06
16371 21 T/I 23 None 0.2626 None gnomAD-4.0.0 1.20032E-06
16371 21 T/R 23 None 0.2626 None gnomAD-4.0.0 1.20032E-06
16374 24 P/S 26 None 0.4626 None gnomAD-4.0.0 1.59331E-06
16375 25 P/L 27 None 0.1638 None gnomAD-4.0.0 2.73838E-06
16375 25 P/Q 27 rs1256813746 0.1638 None gnomAD-4.0.0 2.05378E-06
16375 25 P/R 27 rs1256813746 0.1638 None gnomAD-2.1.1 4.04E-06
16375 25 P/R 27 rs1256813746 0.1638 None gnomAD-4.0.0 6.84594E-07
16375 25 P/S 27 rs1424436024 0.1638 None gnomAD-2.1.1 4.04E-06
16376 26 R/C 28 rs772152172 1.0271 None gnomAD-2.1.1 3.59E-05
16376 26 R/C 28 rs772152172 1.0271 None gnomAD-3.1.2 6.59E-06
16376 26 R/C 28 rs772152172 1.0271 None gnomAD-4.0.0 1.79842E-05
16376 26 R/H 28 rs746306518 1.0271 None gnomAD-2.1.1 4.04E-06
16376 26 R/H 28 rs746306518 1.0271 None gnomAD-4.0.0 1.43767E-05
16377 27 D/H 29 rs757542062 0.4144 None gnomAD-2.1.1 4.04E-06
16377 27 D/H 29 rs757542062 0.4144 None gnomAD-4.0.0 6.84613E-07
16377 27 D/N 29 rs757542062 0.4144 None gnomAD-2.1.1 1.79E-05
16377 27 D/N 29 rs757542062 0.4144 None gnomAD-3.1.2 3.29E-05
16377 27 D/N 29 rs757542062 0.4144 None gnomAD-4.0.0 1.79846E-05
16378 28 D/N 30 rs376610251 0.2576 None gnomAD-3.1.2 1.32E-05
16378 28 D/N 30 rs376610251 0.2576 None gnomAD-4.0.0 3.72079E-06
16378 28 D/Y 30 None 0.2576 None gnomAD-4.0.0 6.84615E-07
16379 29 G/D 31 rs1355270834 0.0772 None gnomAD-2.1.1 4.04E-06
16379 29 G/D 31 rs1355270834 0.0772 None gnomAD-4.0.0 2.05382E-06
16381 31 S/P 33 None 0.1677 None gnomAD-4.0.0 6.84619E-07
16381 31 S/T 33 None 0.1677 None gnomAD-4.0.0 6.84619E-07
16382 32 K/R 34 None 0.9486 None gnomAD-4.0.0 2.73848E-06
16384 34 T/P 36 rs1559808274 0.3523 None gnomAD-2.1.1 4.04E-06
16384 34 T/P 36 rs1559808274 0.3523 None gnomAD-4.0.0 1.59351E-06
16385 35 N/D 37 None 0.1545 None gnomAD-4.0.0 1.59351E-06
16385 35 N/I 37 rs778033610 0.1545 None gnomAD-2.1.1 4.04E-06
16385 35 N/I 37 rs778033610 0.1545 None gnomAD-4.0.0 1.59352E-06
16386 36 Y/C 38 rs190721620 0.1030 None gnomAD-2.1.1 8.08E-06
16386 36 Y/C 38 rs190721620 0.1030 None gnomAD-3.1.2 1.32E-05
16386 36 Y/C 38 rs190721620 0.1030 None 1000 genomes 1.99681E-04
16386 36 Y/C 38 rs190721620 0.1030 None gnomAD-4.0.0 6.82135E-06
16386 36 Y/H 38 rs754631165 0.1030 None gnomAD-2.1.1 4.04E-06
16386 36 Y/H 38 rs754631165 0.1030 None gnomAD-4.0.0 1.59358E-06
16387 37 V/A 39 rs765925142 0.1729 None gnomAD-2.1.1 4.04E-06
16387 37 V/A 39 rs765925142 0.1729 None gnomAD-4.0.0 1.59357E-06
16388 38 V/M 40 rs1299253449 0.0771 None gnomAD-2.1.1 4.04E-06
16388 38 V/M 40 rs1299253449 0.0771 None gnomAD-3.1.2 6.59E-06
16388 38 V/M 40 rs1299253449 0.0771 None gnomAD-4.0.0 2.56641E-06
16389 39 E/D 41 rs1386540651 0.1592 None gnomAD-2.1.1 4.04E-06
16389 39 E/D 41 rs1386540651 0.1592 None gnomAD-4.0.0 1.36931E-06
16389 39 E/K 41 rs2154201588 0.1592 None gnomAD-4.0.0 4.10788E-06
16391 41 R/Q 43 rs200944827 0.2051 None gnomAD-2.1.1 1.29208E-04
16391 41 R/Q 43 rs200944827 0.2051 None gnomAD-3.1.2 1.31737E-04
16391 41 R/Q 43 rs200944827 0.2051 None gnomAD-4.0.0 1.60631E-04
16392 42 A/E 44 rs750310775 0.1253 None gnomAD-2.1.1 4.04E-06
16392 42 A/E 44 rs750310775 0.1253 None gnomAD-4.0.0 1.30084E-05
16392 42 A/T 44 rs794729446 0.1253 None gnomAD-4.0.0 1.59368E-06
16394 44 D/N 54 rs765265590 0.7065 None gnomAD-2.1.1 8.08E-06
16394 44 D/N 54 rs765265590 0.7065 None gnomAD-4.0.0 3.18734E-06
16396 46 E/K 63 None 0.9572 None gnomAD-4.0.0 1.20032E-06
16397 47 V/G 64 rs761480322 0.5760 None gnomAD-2.1.1 4.04E-06
16397 47 V/G 64 rs761480322 0.5760 None gnomAD-3.1.2 6.59E-06
16397 47 V/G 64 rs761480322 0.5760 None gnomAD-4.0.0 5.13209E-06
16397 47 V/L 64 None 0.5760 None gnomAD-4.0.0 3.18733E-06
16397 47 V/M 64 rs397517595 0.5760 None gnomAD-3.1.2 6.59E-06
16397 47 V/M 64 rs397517595 0.5760 None gnomAD-4.0.0 6.58553E-06
16399 49 H/Q 66 rs550330154 0.6108 None gnomAD-3.1.2 1.32E-05
16399 49 H/Q 66 rs550330154 0.6108 None 1000 genomes 1.99681E-04
16399 49 H/Q 66 rs550330154 0.6108 None gnomAD-4.0.0 3.10083E-06
16399 49 H/Y 66 rs1194172632 0.6108 None gnomAD-2.1.1 4.04E-06
16399 49 H/Y 66 rs1194172632 0.6108 None gnomAD-3.1.2 6.59E-06
16399 49 H/Y 66 rs1194172632 0.6108 None gnomAD-4.0.0 6.41662E-06
16401 51 L/R 68 None 0.2811 None gnomAD-4.0.0 1.20032E-06
16401 51 L/V 68 rs794729447 0.2811 None gnomAD-3.1.2 6.59E-06
16401 51 L/V 68 rs794729447 0.2811 None gnomAD-4.0.0 6.59031E-06
16402 52 S/L 69 rs772357820 0.1650 None gnomAD-2.1.1 1.62E-05
16402 52 S/L 69 rs772357820 0.1650 None gnomAD-3.1.2 6.59E-06
16402 52 S/L 69 rs772357820 0.1650 None gnomAD-4.0.0 2.23273E-05
16402 52 S/P 69 rs1413819642 0.1650 None gnomAD-3.1.2 6.59E-06
16402 52 S/P 69 rs1413819642 0.1650 None gnomAD-4.0.0 6.58631E-06
16403 53 S/P 70 rs746009199 0.3960 None gnomAD-2.1.1 4.04E-06
16403 53 S/P 70 rs746009199 0.3960 None gnomAD-3.1.2 2.64E-05
16403 53 S/P 70 rs746009199 0.3960 None gnomAD-4.0.0 6.4169E-06
16403 53 S/T 70 rs746009199 0.3960 None gnomAD-2.1.1 4.04E-06
16403 53 S/Y 70 rs774691242 0.3960 None gnomAD-2.1.1 1.08E-05
16403 53 S/Y 70 rs774691242 0.3960 None gnomAD-3.1.2 6.59E-06
16403 53 S/Y 70 rs774691242 0.3960 None gnomAD-4.0.0 6.41682E-06
16405 55 V/I 77 rs570644860 0.1115 None gnomAD-2.1.1 3.23E-05
16405 55 V/I 77 rs570644860 0.1115 None gnomAD-3.1.2 1.98E-05
16405 55 V/I 77 rs570644860 0.1115 None 1000 genomes 1.99681E-04
16405 55 V/I 77 rs570644860 0.1115 None gnomAD-4.0.0 2.85289E-05
16406 56 K/R 83 None 0.7285 None gnomAD-4.0.0 1.59385E-06
16407 57 D/Y 88 None 0.6862 None gnomAD-4.0.0 1.20032E-06
16409 59 N/D 90 rs1315841408 0.4209 None gnomAD-2.1.1 3.19E-05
16409 59 N/D 90 rs1315841408 0.4209 None gnomAD-3.1.2 6.59E-06
16409 59 N/D 90 rs1315841408 0.4209 None gnomAD-4.0.0 2.5665E-06
16409 59 N/I 90 rs2056864818 0.4209 None gnomAD-4.0.0 1.59385E-06
16409 59 N/K 90 rs2056864466 0.4209 None gnomAD-4.0.0 1.59385E-06
16411 61 K/R 92 None 0.5491 None gnomAD-4.0.0 1.59395E-06
16412 62 A/G 93 rs746659077 0.0946 None gnomAD-2.1.1 2.83E-05
16412 62 A/G 93 rs746659077 0.0946 None gnomAD-3.1.2 3.29E-05
16412 62 A/G 93 rs746659077 0.0946 None gnomAD-4.0.0 1.11642E-05
16412 62 A/V 93 rs746659077 0.0946 None gnomAD-2.1.1 4.04E-06
16412 62 A/V 93 rs746659077 0.0946 None gnomAD-4.0.0 1.02705E-05
16413 63 T/I 94 None 0.4684 None gnomAD-4.0.0 1.59389E-06
16413 63 T/N 94 None 0.4684 None gnomAD-4.0.0 1.59389E-06
16414 64 K/R 96 rs1329659749 0.8923 None gnomAD-2.1.1 4.04E-06
16414 64 K/R 96 rs1329659749 0.8923 None gnomAD-4.0.0 2.73877E-06
16415 65 L/F 97 rs779906601 0.1058 None gnomAD-2.1.1 4.04E-06
16415 65 L/F 97 rs779906601 0.1058 None gnomAD-4.0.0 1.59387E-06
16417 67 P/R 99 rs1387631926 0.3764 None gnomAD-2.1.1 4.04E-06
16417 67 P/R 99 rs1387631926 0.3764 None gnomAD-4.0.0 1.59407E-06
16417 67 P/S 99 None 0.3764 None gnomAD-4.0.0 1.20032E-06
16418 68 N/K 100 rs749986997 0.8279 None gnomAD-2.1.1 4.04E-06
16418 68 N/K 100 rs749986997 0.8279 None gnomAD-4.0.0 1.59401E-06
16418 68 N/S 100 rs757956453 0.8279 None gnomAD-2.1.1 4.04E-06
16418 68 N/S 100 rs757956453 0.8279 None gnomAD-4.0.0 1.36944E-06
16420 70 E/D 103 rs2056859473 0.4285 None gnomAD-3.1.2 6.59E-06
16420 70 E/D 103 rs2056859473 0.4285 None gnomAD-4.0.0 6.58857E-06
16420 70 E/G 103 rs1402412207 0.4285 None gnomAD-2.1.1 4.04E-06
16420 70 E/G 103 rs1402412207 0.4285 None gnomAD-4.0.0 1.59393E-06
16420 70 E/K 103 rs764682084 0.4285 None gnomAD-2.1.1 2.02E-05
16420 70 E/K 103 rs764682084 0.4285 None gnomAD-3.1.2 1.32E-05
16420 70 E/K 103 rs764682084 0.4285 None gnomAD-4.0.0 6.20235E-06
16422 72 I/N 105 None 0.1432 None gnomAD-4.0.0 6.84697E-07
16422 72 I/T 105 rs746167353 0.1432 None gnomAD-2.1.1 4.04E-06
16422 72 I/T 105 rs746167353 0.1432 None gnomAD-4.0.0 1.78021E-05
16424 74 R/K 107 None 0.1557 None gnomAD-4.0.0 1.20032E-06
16425 75 V/A 108 None 0.0686 None gnomAD-4.0.0 2.05409E-06
16427 77 A/G 110 rs794727351 0.0925 None gnomAD-4.0.0 1.91721E-05
16427 77 A/V 110 None 0.0925 None gnomAD-4.0.0 3.42359E-06
16429 79 N/D 112 None 0.0857 None gnomAD-4.0.0 1.59392E-06
16429 79 N/K 112 rs763809932 0.0857 AVB
Literature None
16430 80 M/I 113 None 0.4179 None gnomAD-4.0.0 1.20032E-06
16430 80 M/L 113 None 0.4179 None gnomAD-4.0.0 1.20032E-06
16430 80 M/T 113 rs973490041 0.4179 None gnomAD-3.1.2 1.32E-05
16430 80 M/T 113 rs973490041 0.4179 None gnomAD-4.0.0 4.06086E-06
16431 81 Y/C 114 None 0.3462 None gnomAD-4.0.0 1.20032E-06
16431 81 Y/H 114 None 0.3462 None gnomAD-4.0.0 1.36942E-06
16432 82 G/D 115 rs547225882 0.2126 None gnomAD-3.1.2 6.58E-06
16432 82 G/D 115 rs547225882 0.2126 None 1000 genomes 1.99681E-04
16432 82 G/D 115 rs547225882 0.2126 None gnomAD-4.0.0 2.5662E-06
16432 82 G/R 115 rs760530855 0.2126 None gnomAD-2.1.1 8.08E-06
16432 82 G/R 115 rs760530855 0.2126 None gnomAD-4.0.0 3.18792E-06
16432 82 G/S 115 rs760530855 0.2126 None gnomAD-2.1.1 4.04E-06
16432 82 G/S 115 rs760530855 0.2126 None gnomAD-4.0.0 9.56376E-06
16432 82 G/V 115 None 0.2126 None gnomAD-4.0.0 1.59393E-06
16433 83 V/A 117 None 0.4061 None gnomAD-4.0.0 1.20032E-06
16434 84 G/A 118 None 0.1647 None gnomAD-4.0.0 1.20032E-06
16434 84 G/C 118 rs775667867 0.1647 None gnomAD-2.1.1 4.04E-06
16434 84 G/R 118 rs775667867 0.1647 None gnomAD-3.1.2 1.32E-05
16434 84 G/R 118 rs775667867 0.1647 None gnomAD-4.0.0 1.31752E-05
16435 85 E/D 119 rs1407270484 0.6909 None gnomAD-3.1.2 6.58E-06
16435 85 E/D 119 rs1407270484 0.6909 None gnomAD-4.0.0 2.03037E-06
16435 85 E/K 119 rs886044255 0.6909 None gnomAD-4.0.0 3.42356E-06
16436 86 P/A 120 rs527592906 0.3702 None gnomAD-3.1.2 6.59E-06
16436 86 P/A 120 rs527592906 0.3702 None 1000 genomes 1.99681E-04
16436 86 P/A 120 rs527592906 0.3702 None gnomAD-4.0.0 6.58311E-06
16436 86 P/L 120 None 0.3702 None gnomAD-4.0.0 1.20032E-06
16436 86 P/Q 120 rs1438404271 0.3702 None gnomAD-3.1.2 6.59E-06
16436 86 P/Q 120 rs1438404271 0.3702 None gnomAD-4.0.0 6.58744E-06
16436 86 P/S 120 None 0.3702 None gnomAD-4.0.0 1.59392E-06
16437 87 V/D 121 rs767768313 0.1664 None gnomAD-2.1.1 2.15E-05
16437 87 V/D 121 rs767768313 0.1664 None gnomAD-3.1.2 2.63E-05
16437 87 V/D 121 rs767768313 0.1664 None gnomAD-4.0.0 3.03893E-05
16438 88 Q/L 122 None 0.4295 None gnomAD-4.0.0 1.59403E-06
16439 89 A/S 123 rs759710792 0.1846 None gnomAD-2.1.1 4.04E-06
16439 89 A/S 123 rs759710792 0.1846 None gnomAD-3.1.2 6.59E-06
16439 89 A/S 123 rs759710792 0.1846 None gnomAD-4.0.0 1.2405E-06
16439 89 A/T 123 rs759710792 0.1846 None gnomAD-2.1.1 8.08E-06
16439 89 A/T 123 rs759710792 0.1846 None gnomAD-4.0.0 1.36945E-06
16441 91 P/L 126 rs570251027 0.4940 None gnomAD-4.0.0 1.59433E-06
16442 92 I/M 127 None 0.1890 None gnomAD-4.0.0 6.84796E-07
16442 92 I/V 127 rs2056850681 0.1890 None gnomAD-4.0.0 1.20032E-06
16443 93 T/A 128 rs1200322239 0.3205 None gnomAD-2.1.1 8.09E-06
16443 93 T/A 128 rs1200322239 0.3205 None gnomAD-4.0.0 4.79359E-06
16443 93 T/I 128 None 0.3205 None gnomAD-4.0.0 1.59478E-06
16443 93 T/R 128 rs1343316485 0.3205 None gnomAD-2.1.1 4.05E-06
16443 93 T/R 128 rs1343316485 0.3205 None gnomAD-4.0.0 4.78434E-06
16444 94 A/T 130 rs1376559145 0.0765 None gnomAD-4.0.0 1.20032E-06
16445 95 K/E 131 rs1553701901 0.5515 None gnomAD-3.1.2 6.58E-06
16445 95 K/E 131 rs1553701901 0.5515 None gnomAD-4.0.0 2.56791E-06
16446 96 Y/C 132 rs2056847941 0.5516 None gnomAD-3.1.2 6.58E-06
16446 96 Y/C 132 rs2056847941 0.5516 None gnomAD-4.0.0 2.03051E-06
16446 96 Y/H 132 rs774443816 0.5516 None gnomAD-2.1.1 4.05E-06
16446 96 Y/H 132 rs774443816 0.5516 None gnomAD-4.0.0 1.36998E-06