NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
SNP linked to Gene (geneID:3854) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_005555.3minus strandNP_005546.2reverseNT_029419.13GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_029419.13NM_005555.3NP_005546.2reverseminus strand728, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
524471901743 rs779143449 0.000 GTrp [W]3565
contig referenceA3565
524471931740 rs748185532 0.000byFreq missenseGGln [Q]3564
contig referenceCHis [H]3564
524471951738 rs772139797 0.000 missenseAAsn [N]1564
contig referenceCHis [H]1564
524471961737 rs900023373 N.D. synonymousALys [K]3563
contig referenceGLys [K]3563
524471991734 rs1416211329 N.D. synonymousTTyr [Y]3562
contig referenceCTyr [Y]3562
524472021731 rs1349088415 N.D. synonymousTSer [S]3561
contig referenceCSer [S]3561
524472031730 rs1460131611 N.D. missenseAAsn [N]2561
contig referenceGSer [S]2561
524472041729 rs1164262924 N.D. missenseGGly [G]1561
missenseTCys [C]1561
contig referenceASer [S]1561
524472051728 rs1401185494 N.D. missenseTAsn [N]3560
contig referenceGLys [K]3560
524472061727 rs371758517 0.000byCluster missenseGArg [R]2560
contig referenceALys [K]2560
524472081725 rs747495865 0.000byFreq missenseTSer [S]3559
synonymousAArg [R]3559
contig referenceGArg [R]3559
524472121721 rs771328301 0.000byFreq missenseAAsn [N]2558
missenseTIle [I]2558
contig referenceGSer [S]2558
524472141719 rs1449234392 N.D. synonymousTSer [S]3557
contig referenceCSer [S]3557
524472181715 rs200620417 0.002 missenseTPhe [F]2556
contig referenceCSer [S]2556
524472201713 rs138933209 0.000byClusterbyFreq synonymousTSer [S]3555
contig referenceCSer [S]3555
524472231710 rs1356974000 N.D. synonymousGThr [T]3554
synonymousTThr [T]3554
contig referenceCThr [T]3554
524472241709 rs539318306 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]2554
contig referenceCThr [T]2554
524472301703 rs775142460 0.000byCluster missenseGSer [S]2552
contig referenceCThr [T]2552
524472301702 rs954490591 N.D. frame shift-His [H]1552
contig referenceACThr [T]1552
524472311702 rs1197410693 N.D. missenseGAla [A]1552
contig referenceAThr [T]1552
524472321701 rs762618910 0.000 nonsenseA3551
contig referenceCTyr [Y]3551
524472381695 rs763683330 0.000 missenseGMet [M]3549
contig referenceCIle [I]3549
524472401693 rs751594384 0.000 missenseGVal [V]1549
contig referenceAIle [I]1549
524472411692 rs757227143 0.000 synonymousTThr [T]3548
contig referenceCThr [T]3548
524472451688 rs141409814 0.000byClusterbyFreq missenseGCys [C]2547
missenseTPhe [F]2547
contig referenceCSer [S]2547
524472481685 rs145923896 0.000With1000GenomeData0.0002 missenseAAsn [N]2546
contig referenceGSer [S]2546
524472501683 rs755876853 0.000byFreq synonymousAGly [G]3545
contig referenceCGly [G]3545
524472521681 rs146988096 0.000byClusterbyFreq missenseASer [S]1545
contig referenceGGly [G]1545
524472531680 rs575779389 0.000byFreqWith1000GenomeData0.0002 synonymousTGly [G]3544
contig referenceCGly [G]3544
524472541679 rs1478846970 N.D. missenseAAsp [D]2544
contig referenceGGly [G]2544
524472581675 rs958861782 N.D. missenseAArg [R]1543
contig referenceGGly [G]1543
524472601673 rs138021918 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseCAla [A]2542
contig referenceTVal [V]2542
524472661667 rs1396393412 N.D. missenseCThr [T]2540
contig referenceGSer [S]2540
524472671666 rs1361655390 N.D. missenseGGly [G]1540
contig referenceASer [S]1540
524472701663 rs777803130 0.000byFreq missenseGVal [V]1539
contig referenceCLeu [L]1539
524472711662 rs920531074 N.D. synonymousTGly [G]3538
contig referenceCGly [G]3538
524472731660 rs1374081300 N.D. missenseASer [S]1538
contig referenceGGly [G]1538
524472741658 rs780343812 0.000byFreq frame shiftATrp [W]2538
contig reference-Gly [G]2538
524472751658 rs747053952 0.000byFreq missenseAAsp [D]2537
contig referenceGGly [G]2537
524472761657 rs149495966 0.000byClusterbyFreq missenseASer [S]1537
missenseTCys [C]1537
contig referenceGGly [G]1537
524472771656 rs781682935 0.000byFreq synonymousAGly [G]3536
contig referenceGGly [G]3536
524472781655 rs746223280 0.000byFreq missenseAGlu [E]2536
contig referenceGGly [G]2536
524472791654 rs770190928 0.000byFreq missenseTTrp [W]1536
contig referenceGGly [G]1536
524472801652 rs747408258 0.000byFreq frame shiftCTLeu [L]2536
contig reference-Gly [G]2536
524472811652 rs554596962 0.000byFreqWith1000GenomeData0.0004 missenseTIle [I]2535
contig referenceCThr [T]2535
524472811651 rs769329834 0.000byFreq frame shiftGAACArg [R]1535
contig reference-Thr [T]1535
524472831648 rs777542750 0.000byFreq -1534
524472831650 rs1282134894 N.D. synonymousTAla [A]3534
contig referenceCAla [A]3534
524472881645 rs762671974 0.000 missenseGGly [G]1533
contig referenceAArg [R]1533
524472911642 rs143946299 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseASer [S]1532
contig referenceGGly [G]1532
524472921641 rs148209422 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]3531
synonymousTSer [S]3531
contig referenceCSer [S]3531
524472961637 rs1449016650 N.D. missenseCThr [T]2530
contig referenceGSer [S]2530
524472991634 rs767365375 0.000 missenseGCys [C]2529
missenseTPhe [F]2529
contig referenceCSer [S]2529
524473041629 rs750303987 0.000 synonymousCPhe [F]3527
contig referenceTPhe [F]3527
524473041629 rs1372622092 N.D. frame shift-Leu [L]3527
contig referenceTPhe [F]3527
524473081625 rs1174854934 N.D. missenseTVal [V]2526
contig referenceGGly [G]2526
524473091624 rs376429278 0.000byClusterbyFreq missenseASer [S]1526
contig referenceGGly [G]1526
524473101623 rs766177343 0.000byFreq synonymousTGly [G]3525
contig referenceCGly [G]3525
524473141619 rs141150690 0.000byCluster missenseAGlu [E]2524
contig referenceGGly [G]2524
524473181615 rs146173634 0.000byClusterbyFreq missenseAIle [I]1523
contig referenceGVal [V]1523
524473191614 rs140188440 0.000byCluster synonymousAGly [G]3522
synonymousGGly [G]3522
synonymousTGly [G]3522
contig referenceCGly [G]3522
524473201613 rs777924533 0.000 missenseAAsp [D]2522
contig referenceGGly [G]2522
524473211612 rs542447561 N.D. missenseASer [S]1522
contig referenceGGly [G]1522
524473241609 rs1421486947 N.D. missenseGVal [V]1521
contig referenceCLeu [L]1521
524473291604 rs1325369049 N.D. missenseAAsn [N]2519
contig referenceGSer [S]2519
524473331600 rs1233832834 N.D. missenseASer [S]1518
contig referenceGGly [G]1518
524473341599 rs373264955 0.000byCluster synonymousCTyr [Y]3517
contig referenceTTyr [Y]3517
524473351598 rs1479959591 N.D. missenseGCys [C]2517
contig referenceATyr [Y]2517
524473361597 rs200055232 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseCHis [H]1517
contig referenceTTyr [Y]1517
524473371596 rs61749468 0.008byClusterbyFreqWith1000GenomeData0.0130 synonymousTSer [S]3516
contig referenceCSer [S]3516
524473431590 rs146373607 0.000byClusterbyFreq synonymousTSer [S]3514
contig referenceCSer [S]3514
524473471586 rs770104486 0.000 missenseAAsn [N]2513
contig referenceGSer [S]2513
524473481585 rs780534493 0.000 missenseGGly [G]1513
contig referenceASer [S]1513
524473501583 rs1203666178 N.D. missenseAGlu [E]2512
contig referenceGGly [G]2512
524473571576 rs1261074098 N.D. missenseTCys [C]1510
contig referenceGGly [G]1510
524473591574 rs749628792 0.000 missenseCPro [P]2509
contig referenceTLeu [L]2509
524473621571 rs139358472 0.000byCluster missenseAAsp [D]2508
contig referenceGGly [G]2508
524473631570 rs774086396 0.000 missenseCArg [R]1508
contig referenceGGly [G]1508
524473641569 rs1454272819 N.D. synonymousGLeu [L]3507
contig referenceALeu [L]3507
524473731560 rs546061164 0.000byFreqWith1000GenomeData0.0004 synonymousTGly [G]3504
contig referenceCGly [G]3504
524473741559 rs1365961232 N.D. missenseTVal [V]2504
contig referenceGGly [G]2504
524473751558 rs150021015 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseASer [S]1504
missenseTCys [C]1504
contig referenceGGly [G]1504
524473761557 rs145254155 0.000byClusterbyFreq synonymousGVal [V]3503
synonymousTVal [V]3503
contig referenceCVal [V]3503
524473781555 rs1383531401 N.D. missenseAIle [I]1503
contig referenceGVal [V]1503
524473801553 rs1386858348 N.D. missenseAAsp [D]2502
contig referenceGGly [G]2502
524473811552 rs149152547 0.000byClusterbyFreq missenseASer [S]1502
missenseCArg [R]1502
contig referenceGGly [G]1502
524473821551 rs753657782 0.000byFreq synonymousTSer [S]3501
contig referenceCSer [S]3501
524473831550 rs1440135830 N.D. missenseAAsn [N]2501
contig referenceGSer [S]2501
524473861547 rs1309691831 N.D. missenseTVal [V]2500
contig referenceCAla [A]2500
524473881545 rs1337336796 N.D. synonymousGGly [G]3499
contig referenceTGly [G]3499
524473901543 rs61746355 0.050byClusterbyFreqWith1000GenomeData0.0144 missenseASer [S]1499
missenseTCys [C]1499
contig referenceGGly [G]1499
524473911542 rs147867894 0.005byClusterbyFreqWith1000GenomeData0.0010 synonymousAGly [G]3498
synonymousTGly [G]3498
contig referenceCGly [G]3498
524473941539 rs757339399 0.000 synonymousCTyr [Y]3497
contig referenceTTyr [Y]3497
524473951538 rs61746354 0.080byClusterbyFreqWith1000GenomeData0.0256 missenseGCys [C]2497
contig referenceATyr [Y]2497
524473981535 rs1271389792 N.D. missenseTVal [V]2496
contig referenceGGly [G]2496
524474011532 rs750932643 0.000byFreq missenseAAsn [N]2495
contig referenceGSer [S]2495
524474081525 rs147008947 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]1493
contig referenceGVal [V]1493
524474091524 rs201073484 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTThr [T]3492
contig referenceCThr [T]3492
524474121521 rs867923192 N.D.byCluster synonymousTSer [S]3491
contig referenceCSer [S]3491
524474151518 rs749680153 0.000byFreq missenseTHis [H]3490
contig referenceGGln [Q]3490
524474161517 rs755323118 0.000 missenseGArg [R]2490
missenseTLeu [L]2490
contig referenceAGln [Q]2490
524474171516 rs1362849482 N.D. nonsenseT1490
contig referenceCGln [Q]1490
524474181515 rs148044538 0.000byClusterbyFreq synonymousAVal [V]3489
contig referenceGVal [V]3489
524474211512 rs762600737 0.000 synonymousGVal [V]3488
contig referenceAVal [V]3488
524474231510 rs1391715239 N.D. missenseAIle [I]1488
contig referenceGVal [V]1488
524475411505 rs1216061948 N.D. missenseAAsn [N]2486
contig referenceTIle [I]2486
524475421504 rs370394338 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGVal [V]1486
contig referenceAIle [I]1486
524475471499 rs1395414936 N.D. missenseCAla [A]2484
contig referenceTVal [V]2484
524475511495 rs754440839 0.000 missenseALys [K]1483
contig referenceCGln [Q]1483
524475521494 rs1310896860 N.D. synonymousTGly [G]3482
contig referenceAGly [G]3482
524475561490 rs1375040244 N.D. missenseCAla [A]2481
contig referenceTVal [V]2481
524475571489 rs140834481 0.001byClusterbyFreq missenseAIle [I]1481
contig referenceGVal [V]1481
524475581488 rs373899186 0.000byCluster synonymousTGly [G]3480
contig referenceCGly [G]3480
524475631483 rs369418982 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseALys [K]1479
contig referenceGGlu [E]1479
524475641482 rs753121763 0.000byFreq synonymousTGly [G]3478
contig referenceCGly [G]3478
524475671479 rs1302621389 N.D. synonymousCAsn [N]3477
contig referenceTAsn [N]3477
524475721474 rs1383960704 N.D. missenseGVal [V]1476
contig referenceCLeu [L]1476
524475731473 rs758625476 0.000 missenseTSer [S]3475
synonymousAArg [R]3475
contig referenceGArg [R]3475
524477781472 rs1460278209 N.D. missenseALys [K]2475
contig referenceGArg [R]2475
524477811469 rs1220289062 N.D. missenseATyr [Y]2474
contig referenceGCys [C]2474
524477861464 rs376510657 0.000byCluster YessynonymousAGlu [E]3472
contig referenceGGlu [E]3472
524477891461 rs747596381 0.000byClusterbyFreq synonymousTGly [G]3471
contig referenceCGly [G]3471
524477911459 rs150128167 0.000byCluster YesmissenseTCys [C]1471
contig referenceGGly [G]1471
524477981452 rs1281690776 N.D. synonymousALeu [L]3468
contig referenceGLeu [L]3468
524478041446 rs1172688711 N.D. synonymousTArg [R]3466
contig referenceCArg [R]3466
524478051445 rs759757944 0.000byFreq missenseAHis [H]2466
missenseTLeu [L]2466
contig referenceGArg [R]2466
524478061444 rs138479175 0.002byClusterbyFreqWith1000GenomeData0.0020 YesmissenseTCys [C]1466
contig referenceCArg [R]1466
524478071443 rs1455677182 N.D. synonymousTTyr [Y]3465
contig referenceCTyr [Y]3465
524478101440 rs763339267 0.000 synonymousAThr [T]3464
synonymousTThr [T]3464
contig referenceCThr [T]3464
524478141436 rs764620689 0.000byFreq missenseTVal [V]2463
contig referenceCAla [A]2463
524478151435 rs772103229 0.000byFreq missenseAThr [T]1463
missenseTSer [S]1463
contig referenceGAla [A]1463
524478161434 rs767159401 0.000 synonymousTIle [I]3462
contig referenceCIle [I]3462
524478191431 rs750068055 0.000 synonymousAGlu [E]3461
contig referenceGGlu [E]3461
524478251425 rs755676997 0.000 synonymousCAsp [D]3459
contig referenceTAsp [D]3459
524478281422 rs765779732 0.000byFreq synonymousALeu [L]3458
contig referenceGLeu [L]3458
524478301420 rs1206313527 N.D. synonymousTLeu [L]1458
contig referenceCLeu [L]1458
524478311419 rs753850271 0.000 synonymousAAla [A]3457
contig referenceCAla [A]3457
524478331417 rs1469770071 N.D. missenseCPro [P]1457
contig referenceGAla [A]1457
524478371413 rs1188932097 N.D. synonymousALys [K]3455
contig referenceGLys [K]3455
524478421408 rs141597595 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAIle [I]1454
contig referenceGVal [V]1454
524478431407 rs145280284 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTAsn [N]3453
contig referenceCAsn [N]3453
524478471403 rs368909076 0.000byClusterbyFreq YesmissenseCThr [T]2452
contig referenceTMet [M]2452
524478511399 rs758267248 0.000 missenseGVal [V]1451
contig referenceCLeu [L]1451
524478541396 rs781622834 0.000 missenseCGln [Q]1450
contig referenceGGlu [E]1450
524478561394 rs912819902 N.D. missenseGArg [R]2449
contig referenceAGln [Q]2449
524478571393 rs1327253901 N.D. nonsenseT1449
contig referenceCGln [Q]1449
524478611389 rs746067350 0.000 missenseCAsp [D]3447
contig referenceGGlu [E]3447
524478671383 rs1408768856 N.D. frame shift-Arg [R]3446
contig referenceGLys [K]3446
524478711379 rs769957795 0.000byFreq missenseAGln [Q]2444
contig referenceTLeu [L]2444
524478731377 rs370595590 0.000byClusterbyFreq YessynonymousAArg [R]3443
synonymousCArg [R]3443
contig referenceGArg [R]3443
524478741376 rs749339703 0.000byFreq missenseAGln [Q]2443
missenseCPro [P]2443
contig referenceGArg [R]2443
524478751375 rs199727604 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGGly [G]1443
missenseTTrp [W]1443
contig referenceCArg [R]1443
524478761374 rs762230367 0.000byFreq synonymousTAla [A]3442
contig referenceCAla [A]3442
524478771373 rs897575597 N.D. missenseTVal [V]2442
contig referenceCAla [A]2442
524478781372 rs1216274791 N.D. missenseAThr [T]1442
contig referenceGAla [A]1442
524478791371 rs1270544702 N.D. synonymousALeu [L]3441
contig referenceGLeu [L]3441
524478811369 rs137872925 0.000byClusterbyFreq YesmissenseGVal [V]1441
contig referenceCLeu [L]1441
524478841366 rs1211806889 N.D. missenseAAsn [N]1440
contig referenceGAsp [D]1440
524478861364 rs772897031 0.000 missenseGArg [R]2439
contig referenceAGln [Q]2439
524478871363 rs1484837114 N.D. missenseGGlu [E]1439
contig referenceCGln [Q]1439
524478881362 rs142297644 0.002byClusterbyFreqWith1000GenomeData0.0094 YessynonymousALys [K]3438
contig referenceGLys [K]3438
524478891361 rs146391553 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseGArg [R]2438
contig referenceALys [K]2438
524478941356 rs142940927 0.023byClusterbyFreqWith1000GenomeData0.0369 YessynonymousALys [K]3436
contig referenceGLys [K]3436
524478961354 rs754446188 0.000byFreq nonsenseT1436
contig referenceALys [K]1436
524478991351 rs765335449 0.000 missenseALys [K]1435
contig referenceCGln [Q]1435
524479011349 rs752669022 0.000byFreq missenseCPro [P]2434
contig referenceTLeu [L]2434
524479031347 rs1415349697 N.D. synonymousTAla [A]3433
contig referenceCAla [A]3433
524479041346 rs1175969612 N.D. missenseGGly [G]2433
missenseTVal [V]2433
contig referenceCAla [A]2433
524479051345 rs1156415049 N.D. missenseAThr [T]1433
contig referenceGAla [A]1433
524479081342 rs1376858459 N.D. missenseTTyr [Y]1432
contig referenceGAsp [D]1432
524479111339 rs758318631 0.000 missenseALys [K]1431
contig referenceGGlu [E]1431
524479131337 rs1469240277 N.D. missenseCPro [P]2430
contig referenceTLeu [L]2430
524479151335 rs1363861425 N.D. synonymousTGly [G]3429
contig referenceGGly [G]3429
524479161334 rs552603264 0.000With1000GenomeData0.0002 missenseTVal [V]2429
contig referenceGGly [G]2429
524479171333 rs1179907451 N.D. missenseCArg [R]1429
contig referenceGGly [G]1429
524479231327 rs867913712 N.D.byCluster missenseAMet [M]1427
contig referenceCLeu [L]1427
524479281322 rs190534022 0.000With1000GenomeData0.0002 YesmissenseGSer [S]2425
contig referenceAAsn [N]2425
524479331317 rs756312531 0.000 synonymousCAla [A]3423
contig referenceTAla [A]3423
524479351315 rs1268369402 N.D. missenseTSer [S]1423
contig referenceGAla [A]1423
524479381304 rs1341430226 N.D. -2419
524479391311 rs1466760445 N.D. missenseTAsn [N]3421
contig referenceGLys [K]3421
524479421308 rs780264075 0.000byFreq synonymousGLeu [L]3420
synonymousTLeu [L]3420
contig referenceCLeu [L]3420
524479431307 rs1282286398 N.D. missenseAHis [H]2420
contig referenceTLeu [L]2420
524479451305 rs202113612 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAAla [A]3419
contig referenceCAla [A]3419
524479461304 rs774892962 0.000 missenseTVal [V]2419
contig referenceCAla [A]2419
524479481302 rs1350148800 N.D. missenseTIle [I]3418
contig referenceGMet [M]3418
524479491301 rs1009402435 N.D. missenseALys [K]2418
contig referenceTMet [M]2418
524479531297 rs747142811 N.D. missenseALys [K]1417
contig referenceGGlu [E]1417
524479581292 rs200778388 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAHis [H]2415
missenseCPro [P]2415
missenseTLeu [L]2415
contig referenceGArg [R]2415
524479591291 rs556860047 0.000byCluster missenseTCys [C]1415
contig referenceCArg [R]1415
524479611289 rs1191599417 N.D. missenseGArg [R]2414
contig referenceAGln [Q]2414
524479661284 rs1247925347 N.D. synonymousAAla [A]3412
contig referenceTAla [A]3412
524479671283 rs761046409 0.000 missenseTVal [V]2412
contig referenceCAla [A]2412
524479741276 rs770497003 0.000byFreq missenseAThr [T]1410
contig referenceGAla [A]1410
524479761274 rs776346440 0.000 missenseCThr [T]2409
contig referenceTIle [I]2409
524479781272 rs759029794 0.000 synonymousTAla [A]3408
contig referenceCAla [A]3408
524479791271 rs764818442 0.000 missenseTVal [V]2408
contig referenceCAla [A]2408
524479801270 rs141947025 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1408
contig referenceGAla [A]1408
524479811269 rs388626 0.500byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.4824 YessynonymousTAla [A]3407
contig referenceCAla [A]3407
524479831267 rs377408881 0.000byClusterbyFreq YesmissenseAThr [T]1407
missenseTSer [S]1407
contig referenceGAla [A]1407
524479851265 rs751323410 0.000 missenseGArg [R]2406
contig referenceAGln [Q]2406
524479861264 rs757008227 0.000 nonsenseT1406
contig referenceCGln [Q]1406
524479871263 rs1305281753 N.D. synonymousGLeu [L]3405
contig referenceALeu [L]3405
524479891260 rs774025074 0.001byFreq AACAsn [N]3404
524479891261 rs780207885 0.000 synonymousTLeu [L]1405
contig referenceCLeu [L]1405
524479911259 rs1368521063 N.D. missenseGSer [S]2404
contig referenceAAsn [N]2404
524479941256 rs1232754112 N.D. missenseTVal [V]2403
contig referenceCAla [A]2403
524479971253 rs754076285 0.000byFreq missenseATyr [Y]2402
contig referenceGCys [C]2402
524488441249 rs1366610102 N.D. missenseALys [K]1401
contig referenceCGln [Q]1401
524488471246 rs139792514 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGlu [E]1400
contig referenceALys [K]1400
524488511242 rs746172336 0.000 synonymousAVal [V]3398
synonymousTVal [V]3398
contig referenceCVal [V]3398
524488541239 rs146904435 0.000byClusterbyFreqWith1000GenomeData YesmissenseAGln [Q]3397
synonymousTHis [H]3397
contig referenceCHis [H]3397
524488581235 rs1389853835 N.D. missenseGGly [G]2396
contig referenceAAsp [D]2396
524488591234 rs138988810 0.010byClusterbyFreqWith1000GenomeData0.0038 YesmissenseAAsn [N]1396
contig referenceGAsp [D]1396
524488601233 rs768268060 0.000 synonymousAIle [I]3395
synonymousTIle [I]3395
contig referenceCIle [I]3395
524488621231 rs960455848 N.D. missenseGVal [V]1395
contig referenceAIle [I]1395
524488631230 rs1449160568 N.D. missenseTAsp [D]3394
contig referenceGGlu [E]3394
524488641229 rs1291588735 N.D. missenseCAla [A]2394
contig referenceAGlu [E]2394
524488721221 rs1341936504 N.D. synonymousALeu [L]3391
contig referenceGLeu [L]3391
524488731220 rs1321628654 N.D. missenseCPro [P]2391
contig referenceTLeu [L]2391
524488751218 rs1190435725 N.D. missenseTSer [S]3390
contig referenceGArg [R]3390
524488771216 rs1228812899 N.D. missenseGGly [G]1390
contig referenceAArg [R]1390
524488811212 rs1253380625 N.D. synonymousAIle [I]3388
contig referenceCIle [I]3388
524488821211 rs774203775 0.000 missenseAAsn [N]2388
missenseCThr [T]2388
contig referenceTIle [I]2388
524488861207 rs1202525657 N.D. missenseGVal [V]1387
contig referenceAMet [M]1387
524488881205 rs368362440 0.000byClusterbyFreq missenseAHis [H]2386
missenseCPro [P]2386
missenseTLeu [L]2386
contig referenceGArg [R]2386
524488891204 rs767313923 0.000byFreq missenseASer [S]1386
missenseTCys [C]1386
contig referenceCArg [R]1386
524488901203 rs760398334 0.000 missenseGLys [K]3385
contig referenceCAsn [N]3385
524488961197 rs1159861049 N.D. missenseTAsp [D]3383
contig referenceGGlu [E]3383
524489011192 rs765512406 0.000 missenseTSer [S]1382
contig referenceGAla [A]1382
524489031190 rs1403546569 N.D. missenseCThr [T]2381
contig referenceTIle [I]2381
524489101183 rs1423111855 N.D. missenseALys [K]1379
contig referenceCGln [Q]1379
524489111182 rs752907331 0.000 synonymousALys [K]3378
contig referenceGLys [K]3378
524489131180 rs758526690 0.000 missenseCGln [Q]1378
contig referenceALys [K]1378
524489181175 rs1163654582 N.D. missenseGSer [S]2376
contig referenceAAsn [N]2376
524489191174 rs1427561995 N.D. missenseCHis [H]1376
contig referenceAAsn [N]1376
524489211172 rs764203649 0.000byFreq missenseAHis [H]2375
contig referenceGArg [R]2375
524489221171 rs751554113 0.000byFreq missenseASer [S]1375
missenseTCys [C]1375
contig referenceCArg [R]1375
524489241169 rs757806566 0.000byFreq missenseCPro [P]2374
contig referenceTLeu [L]2374
524489271166 rs781494966 0.000byFreq missenseGGly [G]2373
missenseTVal [V]2373
contig referenceAAsp [D]2373
524489281165 rs756540663 0.000byFreq missenseAAsn [N]1373
missenseCHis [H]1373
contig referenceGAsp [D]1373
524489291164 rs779910657 0.000byFreq synonymousTAsp [D]3372
contig referenceCAsp [D]3372
524489361157 rs748925772 0.000 missenseCPro [P]2370
missenseGArg [R]2370
contig referenceAHis [H]2370
524489421151 rs768087354 0.000 missenseAAsp [D]2368
contig referenceGGly [G]2368
524489451148 rs773938726 0.000 missenseTVal [V]2367
contig referenceCAla [A]2367
524489521141 rs437014 0.498byClusterbyFreqwith2hitWith1000GenomeData missenseGVal [V]1365
contig referenceAIle [I]1365
524489541139 rs1281571212 N.D. missenseGArg [R]2364
contig referenceAGln [Q]2364
524489601133 rs772057116 0.000 missenseCAla [A]2362
contig referenceAGlu [E]2362
524489621131 rs1212593154 N.D. synonymousAGlu [E]3361
contig referenceGGlu [E]3361
524489641129 rs1253671512 N.D. missenseALys [K]1361
missenseCGln [Q]1361
contig referenceGGlu [E]1361
524489651128 rs773022037 0.000byFreq synonymousTTyr [Y]3360
contig referenceCTyr [Y]3360
524489661127 rs760524758 0.000 missenseCSer [S]2360
contig referenceATyr [Y]2360
524494691125 rs1436867001 N.D. missenseCAsn [N]3359
contig referenceGLys [K]3359
524494721122 rs755228431 0.000byFreq synonymousCThr [T]3358
contig referenceAThr [T]3358
524494741120 rs778688221 0.000 missenseGAla [A]1358
contig referenceAThr [T]1358
524494751119 rs373549008 0.000byCluster synonymousAGln [Q]3357
contig referenceGGln [Q]3357
524494781116 rs1481047138 N.D. nonsenseA3356
contig referenceCTyr [Y]3356
524494791115 rs1232569774 N.D. missenseGCys [C]2356
contig referenceATyr [Y]2356
524494811097 rs776954932 0.000byFreq frame shift-Val [V]2350
contig reference(17bp)Ala [A]2350
524494821112 rs757970006 0.000 nonsenseA2355
missenseTLeu [L]2355
contig referenceGTrp [W]2355
524494831111 rs777300878 0.000byFreq missenseGGly [G]1355
contig referenceTTrp [W]1355
524494891105 rs1306241693 N.D. missenseALys [K]1353
contig referenceGGlu [E]1353
524494991095 rs1373466836 N.D. missenseTSer [S]3349
contig referenceGArg [R]3349
524495001094 rs1376618310 N.D. missenseALys [K]2349
contig referenceGArg [R]2349
524495011093 rs11503946 0.002byClusterbyFreqWith1000GenomeData0.0012 missenseGGly [G]1349
synonymousCArg [R]1349
contig referenceAArg [R]1349
524495031091 rs1420653047 N.D. missenseAAsn [N]2348
contig referenceGSer [S]2348
524495041090 rs1404159869 N.D. missenseGGly [G]1348
contig referenceASer [S]1348
524495051089 rs781042956 0.000byFreq synonymousAArg [R]3347
contig referenceGArg [R]3347
524495131081 rs745743945 0.000byFreq missenseTSer [S]1345
contig referenceGAla [A]1345
524495141080 rs769460857 0.000 missenseGMet [M]3344
contig referenceTIle [I]3344
524495151079 rs1309498871 N.D. missenseCThr [T]2344
contig referenceTIle [I]2344
524495161078 rs774682488 0.000 missenseGVal [V]1344
contig referenceAIle [I]1344
524495191075 rs761909527 0.000 missenseALys [K]1343
contig referenceGGlu [E]1343
524495221072 rs772378946 0.000byFreq missenseALys [K]1342
contig referenceGGlu [E]1342
524495231071 rs4079521 N.D.byClusterWith1000GenomeData0.0002 nonsenseG3341
synonymousCTyr [Y]3341
contig referenceTTyr [Y]3341
524495351059 rs760775348 0.000byFreq synonymousGVal [V]3337
synonymousTVal [V]3337
contig referenceCVal [V]3337
524495381056 rs752580660 N.D. synonymousAGlu [E]3336
contig referenceGGlu [E]3336
524495431051 rs369853484 0.000byClusterbyFreq missenseAThr [T]1335
missenseTSer [S]1335
contig referenceGAla [A]1335
524495441050 rs759996259 0.000byFreq missenseGMet [M]3334
synonymousTIle [I]3334
contig referenceCIle [I]3334
524495481046 rs1254299897 N.D. missenseAAsn [N]2333
contig referenceTIle [I]2333
524495491045 rs765492618 0.000byFreq missenseGVal [V]1333
missenseTPhe [F]1333
contig referenceAIle [I]1333
524495531041 rs753070394 0.000 missenseGGlu [E]3331
contig referenceCAsp [D]3331
524495541040 rs758010117 0.000 missenseGGly [G]2331
contig referenceAAsp [D]2331
524495571037 rs145327282 0.000byCluster missenseCPro [P]2330
contig referenceTLeu [L]2330
524495581036 rs1238611853 N.D. synonymousTLeu [L]1330
contig referenceCLeu [L]1330
524495611033 rs751075044 0.000 missenseAAsn [N]1329
contig referenceGAsp [D]1329
524495651029 rs756758177 0.000 synonymousTAsn [N]3327
contig referenceCAsn [N]3327
524495691025 rs781162204 0.000byFreq missenseAHis [H]2326
missenseTLeu [L]2326
contig referenceGArg [R]2326
524495701024 rs190319305 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1326
missenseTCys [C]1326
contig referenceCArg [R]1326
524495751019 rs1411980552 N.D. missenseGSer [S]2324
contig referenceAAsn [N]2324
524495791015 rs1338389811 N.D. missenseAAsn [N]1323
contig referenceGAsp [D]1323
524495811013 rs779744349 0.000byFreq missenseALys [K]2322
missenseCThr [T]2322
contig referenceTMet [M]2322
524495821012 rs145091946 0.000byClusterbyFreq missenseCLeu [L]1322
missenseGVal [V]1322
contig referenceAMet [M]1322
524495841010 rs773498316 0.000 missenseGCys [C]2321
contig referenceCSer [S]2321
524495861008 rs747149723 0.000 synonymousGLeu [L]3320
contig referenceALeu [L]3320
524495871007 rs1414941947 N.D. missenseCPro [P]2320
contig referenceTLeu [L]2320
524495881006 rs1341742970 N.D. synonymousTLeu [L]1320
contig referenceCLeu [L]1320
524495941000 rs771115384 0.000 missenseAMet [M]1318
contig referenceGVal [V]1318
52449595999 rs377079859 0.000byClusterbyFreq synonymousGSer [S]3317
synonymousTSer [S]3317
contig referenceCSer [S]3317
52449597997 rs566062730 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]1317
missenseCPro [P]1317
missenseGAla [A]1317
contig referenceTSer [S]1317
52449600994 rs370461879 0.000byCluster missenseGAla [A]1316
contig referenceAThr [T]1316
52449608986 rs763310605 0.000byFreq missenseAAsn [N]2313
contig referenceTIle [I]2313
52449609985 rs1341656962 N.D. missenseTPhe [F]1313
contig referenceAIle [I]1313
52449612982 rs142625176 0.000With1000GenomeData0.0002 missenseAAsn [N]1312
missenseTTyr [Y]1312
contig referenceCHis [H]1312
52449613981 rs1280779969 N.D. synonymousAThr [T]3311
contig referenceCThr [T]3311
52449620974 rs551355854 0.000byFreqWith1000GenomeData0.0004 missenseGArg [R]2309
contig referenceTMet [M]2309
52449623971 rs756807390 0.000 missenseCPro [P]2308
contig referenceAGln [Q]2308
52449628966 rs571421123 0.000With1000GenomeData0.0002 synonymousTLeu [L]3306
contig referenceGLeu [L]3306
52449630964 rs536802368 0.000byFreqWith1000GenomeData0.0002 missenseAMet [M]1306
synonymousTLeu [L]1306
contig referenceCLeu [L]1306
52449633961 rs1187052028 N.D. missenseALys [K]1305
contig referenceGGlu [E]1305
52449760958 rs1331351375 N.D. missenseAThr [T]1304
contig referenceGAla [A]1304
52449763955 rs757570546 0.000 missenseAAsn [N]1303
contig referenceGAsp [D]1303
52449764954 rs1224708327 N.D. synonymousCTyr [Y]3302
contig referenceTTyr [Y]3302
52449765953 rs1217543076 N.D. missenseGCys [C]2302
contig referenceATyr [Y]2302
52449767951 rs781409851 0.000 missenseCPhe [F]3301
contig referenceGLeu [L]3301
52449769949 rs746002443 0.000 synonymousCLeu [L]1301
contig referenceTLeu [L]1301
52449770948 rs1211992792 N.D. synonymousTAla [A]3300
contig referenceCAla [A]3300
52449782936 rs764558869 N.D. synonymousTAsn [N]3296
contig referenceCAsn [N]3296
52449783935 rs367794230 0.000byCluster missenseGSer [S]2296
contig referenceAAsn [N]2296
52449787931 rs371478761 0.000byClusterbyFreq missenseCLeu [L]1295
contig referenceAIle [I]1295
52449790928 rs977412515 N.D. missenseALys [K]1294
contig referenceGGlu [E]1294
52449791927 rs749763025 0.000byFreq synonymousCAsp [D]3293
contig referenceTAsp [D]3293
52449795923 rs1411996932 N.D. missenseTIle [I]2292
contig referenceCThr [T]2292
52449797921 rs382894 0.007byFreq synonymousCLeu [L]3291
contig referenceTLeu [L]3291
52449799919 rs1156371141 N.D. missenseTPhe [F]1291
contig referenceCLeu [L]1291
52449803915 rs572718504 0.000With1000GenomeData0.0002 synonymousTAsp [D]3289
contig referenceCAsp [D]3289
52449804914 rs1461948262 N.D. missenseTVal [V]2289
contig referenceAAsp [D]2289
52449805913 rs200532105 0.003byCluster missenseAAsn [N]1289
contig referenceGAsp [D]1289
52449807911 rs374881736 0.000byClusterbyFreq missenseAGlu [E]2288
missenseTVal [V]2288
contig referenceCAla [A]2288
52449813905 rs771623502 0.000byFreq missenseAAsp [D]2286
contig referenceCAla [A]2286
52449815903 rs1329813248 N.D. synonymousGGln [Q]3285
contig referenceAGln [Q]3285
52449818900 rs772910057 0.000 synonymousALeu [L]3284
contig referenceGLeu [L]3284
52449819899 rs368064736 0.000byCluster missenseAGln [Q]2284
contig referenceTLeu [L]2284
52449824894 rs765889169 0.000 synonymousAVal [V]3282
contig referenceTVal [V]3282
52449826892 rs753361235 0.000byFreq missenseAIle [I]1282
missenseCLeu [L]1282
missenseTPhe [F]1282
contig referenceGVal [V]1282
52449828890 rs1470095044 N.D. missenseGArg [R]2281
contig referenceALys [K]2281
52449829889 rs151191247 0.000byCluster missenseCGln [Q]1281
contig referenceALys [K]1281
52449831887 rs1197629653 N.D. missenseCThr [T]2280
contig referenceAAsn [N]2280
52449832886 rs371788244 0.000byCluster missenseCHis [H]1280
missenseGAsp [D]1280
contig referenceAAsn [N]1280
52449834884 rs1264010649 N.D. missenseGArg [R]2279
contig referenceTMet [M]2279
52449835883 rs140303040 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]1279
missenseTLeu [L]1279
contig referenceAMet [M]1279
52449837880 rs533997961 N.D.byCluster frame shiftTLeu [L]1278
contig reference-Tyr [Y]1278
52449842876 rs145344532 0.002byClusterbyFreqWith1000GenomeData0.0020 synonymousGAla [A]3276
contig referenceTAla [A]3276
52449843875 rs137905665 0.000byClusterbyFreq missenseAAsp [D]2276
contig referenceCAla [A]2276
52449847871 rs756186078 0.000byFreq missenseTTyr [Y]1275
contig referenceGAsp [D]1275
52449850868 rs780212659 0.000byFreq missenseAMet [M]1274
contig referenceGVal [V]1274
52449851867 rs150034493 0.003byClusterbyFreqWith1000GenomeData0.0050 synonymousCAsp [D]3273
contig referenceTAsp [D]3273
52449852866 rs1330363212 N.D. missenseTVal [V]2273
contig referenceAAsp [D]2273
52449853865 rs1441780399 N.D. missenseAAsn [N]1273
contig referenceGAsp [D]1273
52450015861 rs1212360954 N.D. missenseCAsn [N]3271
contig referenceGLys [K]3271
52450018858 rs552622526 0.000byFreqWith1000GenomeData0.0002 synonymousALeu [L]3270
contig referenceGLeu [L]3270
52450019857 rs775611997 0.000byFreq missenseCPro [P]2270
contig referenceTLeu [L]2270
52450020856 rs762976356 0.000byFreq missenseAMet [M]1270
synonymousTLeu [L]1270
contig referenceCLeu [L]1270
52450022854 rs1216310998 N.D. missenseTIle [I]2269
contig referenceCThr [T]2269
52450028848 rs566467226 0.000byFreqWith1000GenomeData0.0002 missenseCSer [S]2267
contig referenceTPhe [F]2267
52450032844 rs150075508 0.000byCluster missenseALys [K]1266
contig referenceGGlu [E]1266
52450033843 rs1310228287 N.D. synonymousCAsn [N]3265
contig referenceTAsn [N]3265
52450036840 rs1231697461 N.D. missenseCAsp [D]3264
contig referenceGGlu [E]3264
52450039837 rs1337535556 N.D. synonymousCAla [A]3263
synonymousGAla [A]3263
contig referenceAAla [A]3263
52450043833 rs1482849711 N.D. missenseAGlu [E]2262
contig referenceCAla [A]2262
52450045831 rs1209314042 N.D. synonymousGThr [T]3261
contig referenceAThr [T]3261
52450049827 rs377313061 0.000byClusterbyFreq missenseAHis [H]2260
contig referenceGArg [R]2260
52450050826 rs538217383 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]1260
missenseTCys [C]1260
contig referenceCArg [R]1260
52450054822 rs1005186725 N.D. missenseGLys [K]3258
contig referenceCAsn [N]3258
52450056820 rs1438439695 N.D. missenseCHis [H]1258
contig referenceAAsn [N]1258
52450058818 rs1038255058 N.D. missenseCThr [T]2257
contig referenceTIle [I]2257
52450063813 rs755098928 0.000 synonymousCAsp [D]3255
contig referenceTAsp [D]3255
52450065811 rs765268457 0.000 missenseTTyr [Y]1255
contig referenceGAsp [D]1255
52450066810 rs752673201 0.000byFreq synonymousAGlu [E]3254
contig referenceGGlu [E]3254
52450072804 rs374135700 0.000byCluster missenseTAsn [N]3252
contig referenceALys [K]3252
52450415794 rs748891526 0.000 missenseAHis [H]2249
contig referenceTLeu [L]2249
52450416793 rs138341104 0.000byClusterbyFreq missenseTPhe [F]1249
contig referenceCLeu [L]1249
52450417792 rs368725862 0.000byClusterbyFreq synonymousTAsp [D]3248
contig referenceCAsp [D]3248
52450419790 rs1203814223 N.D. missenseAAsn [N]1248
contig referenceGAsp [D]1248
52450420789 rs748003288 0.000byFreq missenseCAsp [D]3247
contig referenceGGlu [E]3247
52450421788 rs1483543300 N.D. missenseGGly [G]2247
contig referenceAGlu [E]2247
52450426783 rs771955772 0.000 synonymousALeu [L]3245
contig referenceGLeu [L]3245
52450428781 rs1249730723 N.D. missenseGVal [V]1245
contig referenceCLeu [L]1245
52450429780 rs530749595 0.000With1000GenomeData0.0002 synonymousTAsp [D]3244
contig referenceCAsp [D]3244
52450432777 rs773006521 0.000byFreq synonymousAGln [Q]3243
contig referenceGGln [Q]3243
52450433776 rs760396362 0.000 missenseCPro [P]2243
missenseGArg [R]2243
contig referenceAGln [Q]2243
52450434775 rs1403923514 N.D. nonsenseT1243
missenseALys [K]1243
contig referenceCGln [Q]1243
52450437772 rs1164602884 N.D. missenseGVal [V]1242
missenseTLeu [L]1242
contig referenceAMet [M]1242
52450438771 rs550429613 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]3241
missenseGLys [K]3241
synonymousTAsn [N]3241
contig referenceCAsn [N]3241
52450446763 rs1430020397 N.D. synonymousTLeu [L]1239
contig referenceCLeu [L]1239
52450448761 rs1316131733 N.D. missenseCAla [A]2238
contig referenceAGlu [E]2238
52450449760 rs775562449 0.000byFreq missenseCGln [Q]1238
contig referenceGGlu [E]1238
52450450759 rs149632179 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]3237
contig referenceGSer [S]3237
52450451758 rs764052533 0.000 missenseTLeu [L]2237
contig referenceCSer [S]2237
52450456753 rs751621723 0.000 synonymousALeu [L]3235
contig referenceGLeu [L]3235
52450457752 rs529792162 0.000byFreqWith1000GenomeData0.0002 missenseCPro [P]2235
missenseGArg [R]2235
contig referenceTLeu [L]2235
52450459750 rs28414881 0.122byClusterbyFreqWith1000GenomeData0.0787 synonymousCArg [R]3234
synonymousCArg [R]3234
synonymousCArg [R]3234
contig referenceTArg [R]3234
contig referenceTArg [R]3234
contig referenceTArg [R]3234
52450460749 rs756538750 0.000byFreq missenseAHis [H]2234
missenseTLeu [L]2234
contig referenceGArg [R]2234
52450461748 rs753409446 0.000byFreq missenseASer [S]1234
missenseTCys [C]1234
contig referenceCArg [R]1234
52450462747 rs3194290 0.145byClusterbyFreqWith1000GenomeData0.0787 synonymousAGly [G]3233
synonymousAGly [G]3233
synonymousAGly [G]3233
synonymousCGly [G]3233
synonymousCGly [G]3233
synonymousCGly [G]3233
contig referenceTGly [G]3233
contig referenceTGly [G]3233
contig referenceTGly [G]3233
52450463746 rs538724780 0.000byFreqWith1000GenomeData0.0006 missenseAAsp [D]2233
contig referenceGGly [G]2233
52450465744 rs1191666921 N.D. synonymousAArg [R]3232
contig referenceGArg [R]3232
52450466743 rs747606364 0.000byFreq missenseAGln [Q]2232
contig referenceGArg [R]2232
52450467742 rs772003182 0.000byFreq missenseGGly [G]1232
missenseTTrp [W]1232
synonymousAArg [R]1232
contig referenceCArg [R]1232
52450470739 rs746866169 0.000 nonsenseT1231
missenseALys [K]1231
contig referenceGGlu [E]1231
52450471738 rs1367762488 N.D. synonymousAGly [G]3230
contig referenceGGly [G]3230
52450472737 rs1472131132 N.D. missenseAGlu [E]2230
missenseTVal [V]2230
contig referenceGGly [G]2230
52450474735 rs71453292 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAVal [V]3229
synonymousAVal [V]3229
synonymousCVal [V]3229
synonymousCVal [V]3229
contig referenceGVal [V]3229
contig referenceGVal [V]3229
52450475734 rs1391175529 N.D. missenseCAla [A]2229
contig referenceTVal [V]2229
52450476733 rs778566012 N.D.byCluster missenseAMet [M]1229
contig referenceGVal [V]1229
52450477732 rs370270393 0.000byClusterbyFreq synonymousAIle [I]3228
synonymousTIle [I]3228
contig referenceCIle [I]3228
52450477732 rs751859924 0.000 frame shift-Met [M]3228
contig referenceCIle [I]3228
52450478731 rs1170115551 N.D. missenseCThr [T]2228
contig referenceTIle [I]2228
52450480729 rs774305985 0.000 missenseALys [K]3227
missenseGLys [K]3227
contig referenceCAsn [N]3227
52450481728 rs652423 0.413byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData missenseGSer [S]2227
missenseGSer [S]2227
missenseGSer [S]2227
missenseGSer [S]2227
missenseGSer [S]2227
missenseTIle [I]2227
missenseTIle [I]2227
missenseTIle [I]2227
missenseTIle [I]2227
missenseTIle [I]2227
contig referenceAAsn [N]2227
contig referenceAAsn [N]2227
contig referenceAAsn [N]2227
contig referenceAAsn [N]2227
contig referenceAAsn [N]2227
52450482727 rs1392623978 N.D. missenseGAsp [D]1227
contig referenceAAsn [N]1227
52450483726 rs368023519 0.000byCluster missenseGGlu [E]3226
contig referenceCAsp [D]3226
52450493716 rs1360812915 N.D. missenseALys [K]2223
contig referenceGArg [R]2223
52450498711 rs761170216 0.000byFreq synonymousGLeu [L]3221
synonymousTLeu [L]3221
contig referenceCLeu [L]3221
52450500709 rs1314020446 N.D. missenseTPhe [F]1221
contig referenceCLeu [L]1221
52450501708 rs1365698114 N.D. synonymousTAsn [N]3220
contig referenceCAsn [N]3220
52450503706 rs1377724049 N.D. missenseCHis [H]1220
contig referenceAAsn [N]1220
52450510699 rs766622037 0.000 synonymousTTyr [Y]3217
contig referenceCTyr [Y]3217
52450513695 rs1295640664 N.D. frame shiftAVal [V]2217
contig reference-Tyr [Y]2217
52450514695 rs754188714 0.000 missenseGArg [R]2216
contig referenceAGln [Q]2216
52450517692 rs754608090 0.000 missenseCAla [A]2215
contig referenceAGlu [E]2215
52450518691 rs201956073 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1215
contig referenceGGlu [E]1215
52450519690 rs752273636 0.000 missenseALeu [L]3214
synonymousTPhe [F]3214
contig referenceCPhe [F]3214
52450521688 rs1203625381 N.D. missenseCLeu [L]1214
contig referenceTPhe [F]1214
52450525684 rs143150216 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]3212
contig referenceGPro [P]3212
52450526683 rs11170126 0.001byClusterbyFreq missenseTLeu [L]2212
contig referenceCPro [P]2212
52450530679 rs746921672 0.000byFreq missenseALys [K]1211
missenseCGln [Q]1211
contig referenceGGlu [E]1211
52450532677 rs1387928985 N.D. missenseGArg [R]2210
contig referenceTLeu [L]2210
52450533676 rs1474910879 N.D. missenseGVal [V]1210
synonymousTLeu [L]1210
contig referenceCLeu [L]1210
52450535674 rs780874416 0.000 missenseTIle [I]2209
contig referenceAAsn [N]2209
52450537672 rs745621221 0.000byFreq missenseCHis [H]3208
contig referenceGGln [Q]3208
52450541668 rs375136721 0.000byCluster missenseCThr [T]2207
contig referenceGArg [R]2207
52450542667 rs1340040683 N.D. frame shift-Gly [G]1207
contig referenceAArg [R]1207
52450543666 rs1268537382 N.D. synonymousAVal [V]3206
contig referenceGVal [V]3206
52450544665 rs774708160 0.000 missenseCAla [A]2206
contig referenceTVal [V]2206
52450545664 rs1335977977 N.D. missenseCLeu [L]1206
contig referenceGVal [V]1206
52450546663 rs1389342214 N.D. synonymousCThr [T]3205
contig referenceTThr [T]3205
52450550659 rs755417296 0.000 frame shift-Arg [R]2204
contig referenceALys [K]2204
52450552657 rs147485252 0.006byClusterbyFreqWith1000GenomeData0.0012 synonymousTThr [T]3203
contig referenceCThr [T]3203
52450557652 rs1326019722 N.D. missenseCArg [R]1202
contig referenceGGly [G]1202
52450563646 rs368610959 0.000byClusterbyFreq nonsenseT1200
contig referenceGGlu [E]1200
52450566643 rs773894817 0.000byFreq missenseALys [K]1199
missenseGGlu [E]1199
contig referenceCGln [Q]1199
52450570639 rs1351805664 N.D. synonymousCLeu [L]3197
contig referenceGLeu [L]3197
52450571638 rs766857971 0.000 missenseCPro [P]2197
contig referenceTLeu [L]2197
52450573636 rs776872109 0.000 synonymousAThr [T]3196
contig referenceCThr [T]3196
52450574635 rs139925091 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseTIle [I]2196
contig referenceCThr [T]2196
52450582627 rs764857770 0.000byFreq synonymousAThr [T]3193
contig referenceCThr [T]3193
52450583626 rs752324819 0.000 missenseTIle [I]2193
contig referenceCThr [T]2193
52450584625 rs1207198670 N.D. missenseTSer [S]1193
contig referenceAThr [T]1193
52450585624 rs757944028 0.000byFreq missenseAGlu [E]3192
synonymousTAsp [D]3192
contig referenceCAsp [D]3192
52450589620 rs1453060229 N.D. missenseGArg [R]2191
contig referenceTLeu [L]2191
52450594615 rs150221772 0.020byClusterbyFreqWith1000GenomeData0.0264 missenseCAsn [N]3189
contig referenceGLys [K]3189
52450602607 rs757158283 0.000byFreq nonsenseT1187
contig referenceCGln [Q]1187
52450603606 rs553527200 0.000With1000GenomeData0.0002 missenseTHis [H]3186
synonymousAGln [Q]3186
contig referenceGGln [Q]3186
52450604605 rs151027332 0.000byCluster missenseGArg [R]2186
contig referenceAGln [Q]2186
52450608601 rs372358048 0.000byCluster missenseALys [K]1185
missenseCGln [Q]1185
contig referenceGGlu [E]1185
52450609600 rs1175173095 N.D. synonymousGLeu [L]3184
contig referenceALeu [L]3184
52450610599 rs755921080 0.000byFreq missenseCPro [P]2184
contig referenceTLeu [L]2184
52450611598 rs779322800 0.000byFreq synonymousTLeu [L]1184
contig referenceCLeu [L]1184
52450613596 rs748349199 0.000 missenseCSer [S]2183
contig referenceTPhe [F]2183
52450614595 rs1384016130 N.D. missenseAIle [I]1183
missenseCLeu [L]1183
contig referenceTPhe [F]1183
52450616593 rs71453293 0.000byClusterbyFreq missenseAGln [Q]2182
contig referenceGArg [R]2182
52450617592 rs773446875 0.000byFreq missenseTTrp [W]1182
contig referenceCArg [R]1182
52451542585 rs768367699 0.000byFreq synonymousTAsp [D]3179
contig referenceCAsp [D]3179
52451544583 rs1230823000 N.D. missenseAAsn [N]1179
contig referenceGAsp [D]1179
52451545582 rs774038128 0.000byFreq synonymousTIle [I]3178
contig referenceCIle [I]3178
52451547580 rs1332566987 N.D. missenseGVal [V]1178
contig referenceAIle [I]1178
52451554573 rs1382529952 N.D. synonymousTAla [A]3175
contig referenceCAla [A]3175
52451556571 rs761274146 0.000byFreq missenseAThr [T]1175
contig referenceGAla [A]1175
52451560567 rs149739313 0.000 synonymousALys [K]3173
contig referenceGLys [K]3173
52451564563 rs1297841963 N.D. missenseGSer [S]2172
contig referenceAAsn [N]2172
52451565562 rs1343938352 N.D. missenseGAsp [D]1172
contig referenceAAsn [N]1172
52451566561 rs767019100 0.000byFreq synonymousTAsn [N]3171
contig referenceCAsn [N]3171
52451568559 rs1250278499 N.D. missenseGAsp [D]1171
contig referenceAAsn [N]1171
52451572555 rs749859479 0.000 synonymousGThr [T]3169
contig referenceCThr [T]3169
52451578549 rs1202137300 N.D. frame shift-Arg [R]3168
contig referenceCLys [K]3168
52451580547 rs1240984101 N.D. missenseCLeu [L]1167
contig referenceAIle [I]1167
52451581546 rs1460687951 N.D. missenseCHis [H]3166
synonymousAGln [Q]3166
contig referenceGGln [Q]3166
52451584543 rs199847801 0.000byCluster synonymousAGlu [E]3165
contig referenceGGlu [E]3165
52451584543 rs748926371 0.000byFreq frame shift-Asp [D]3165
contig referenceGGlu [E]3165
52451587540 rs145590668 0.000byCluster synonymousAArg [R]3164
contig referenceTArg [R]3164
52451588539 rs140336962 0.000byClusterbyFreq missenseAHis [H]2164
missenseCPro [P]2164
missenseTLeu [L]2164
contig referenceGArg [R]2164
52451589538 rs754808789 0.000byFreq missenseASer [S]1164
missenseTCys [C]1164
contig referenceCArg [R]1164
52451593534 rs1378313624 N.D. synonymousAGlu [E]3162
contig referenceGGlu [E]3162
52451595532 rs751774991 0.000 missenseALys [K]1162
contig referenceGGlu [E]1162
52451596531 rs757382249 0.000byFreq synonymousAAla [A]3161
synonymousTAla [A]3161
contig referenceCAla [A]3161
52451598529 rs745882173 0.000 missenseAThr [T]1161
contig referenceGAla [A]1161
52451600527 rs756620061 0.000byFreq missenseAGln [Q]2160
contig referenceGArg [R]2160
52451601526 rs1323031235 N.D. missenseTTrp [W]1160
contig referenceCArg [R]1160
52451602525 rs1274433454 N.D. synonymousAVal [V]3159
contig referenceGVal [V]3159
52451604523 rs780538097 0.000 missenseCLeu [L]1159
contig referenceGVal [V]1159
52451606521 rs749707973 0.000byFreq missenseAGln [Q]2158
missenseTLeu [L]2158
contig referenceGArg [R]2158
52451607520 rs537928073 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]1158
missenseTTrp [W]1158
synonymousAArg [R]1158
contig referenceCArg [R]1158
52451609518 rs756988481 0.000byFreq frame shift-Arg [R]2157
contig referenceAGln [Q]2157
52451609518 rs772792323 0.000 missenseCPro [P]2157
contig referenceAGln [Q]2157
52451610517 rs760194733 0.000 nonsenseT1157
contig referenceCGln [Q]1157
52451612515 rs766490253 0.000 missenseAAsn [N]2156
missenseCThr [T]2156
contig referenceTIle [I]2156
52451614513 rs776688562 0.000byFreq synonymousTAla [A]3155
contig referenceCAla [A]3155
52451616511 rs1701772 0.000byFreq missenseAThr [T]1155
missenseCPro [P]1155
missenseTSer [S]1155
contig referenceGAla [A]1155
52451617510 rs145409385 0.000byClusterbyFreq synonymousGPro [P]3154
synonymousTPro [P]3154
contig referenceCPro [P]3154
52451620507 rs767573535 0.000 missenseGGlu [E]3153
synonymousTAsp [D]3153
contig referenceCAsp [D]3153
52451623504 rs750585194 0.000byFreq synonymousCIle [I]3152
contig referenceTIle [I]3152
52451624503 rs756176376 0.000byFreq missenseCThr [T]2152
contig referenceTIle [I]2152
52451629498 rs780585163 0.000byFreq synonymousALeu [L]3150
synonymousTLeu [L]3150
contig referenceGLeu [L]3150
52451630497 rs755434590 0.000byFreq missenseGArg [R]2150
contig referenceTLeu [L]2150
52451632495 rs1197045060 N.D. missenseALys [K]3149
contig referenceCAsn [N]3149
52451637490 rs779355995 0.000 missenseTPhe [F]1148
contig referenceCLeu [L]1148
52451638489 rs1161742706 N.D. synonymousTPro [P]3147
contig referenceCPro [P]3147
52451640487 rs748401975 0.000byFreq missenseAThr [T]1147
missenseTSer [S]1147