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SNP linked to Gene (geneID:242) 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_001139.2minus strandNP_001130.1reverseNT_010718.17GRCh38.p2<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_010718.17NM_001139.2NP_001130.1reverseminus strand352, 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
80727892349 rs367750142 N.D. YessynonymousAGlu [E]3696
contig referenceGGlu [E]3696
80727932345 rs776908057 0.000 missenseCThr [T]2695
contig referenceTIle [I]2695
80727952343 rs748377475 0.000 synonymousTLeu [L]3694
contig referenceGLeu [L]3694
80728062332 rs769857850 0.000 missenseCHis [H]1691
contig referenceGAsp [D]1691
80728082330 rs760052556 N.D. missenseCPro [P]2690
contig referenceTLeu [L]2690
80728152323 rs773173020 0.000 missenseCHis [H]1688
contig referenceTTyr [Y]1688
80728192319 rs763413541 0.000 synonymousTPro [P]3686
contig referenceCPro [P]3686
80728222316 rs143164748 0.000byCluster YessynonymousTIle [I]3685
contig referenceCIle [I]3685
80728302308 rs774876393 0.000 missenseGVal [V]1683
contig referenceCLeu [L]1683
80728322306 rs759885347 0.000 missenseATyr [Y]2682
missenseCSer [S]2682
contig referenceGCys [C]2682
80728462291 rs751607606 0.000 frame shift(7bp)His [H]2678
contig reference-Gln [Q]2678
80728462292 rs772504655 N.D. synonymousTArg [R]3677
contig referenceCArg [R]3677
80728552283 rs550272024 0.000With1000GenomeData0.0002 missenseAGln [Q]3674
synonymousTHis [H]3674
contig referenceCHis [H]3674
80728682270 rs147489840 0.000byCluster YesmissenseGSer [S]2670
contig referenceAAsn [N]2670
80728742264 rs756877833 0.000 missenseAHis [H]2668
contig referenceGArg [R]2668
80728782260 rs778964875 0.000 nonsenseT1667
contig referenceCGln [Q]1667
80728922246 rs745867054 0.000 missenseCThr [T]2662
contig referenceTIle [I]2662
80728942244 rs758255070 0.000 missenseAArg [R]3661
contig referenceCSer [S]3661
80729012237 rs779729947 0.000 missenseAGln [Q]2659
contig referenceGArg [R]2659
80729042234 rs748339571 0.000 missenseAGln [Q]2658
missenseTLeu [L]2658
contig referenceCPro [P]2658
80729052233 rs773297344 0.000 missenseGAla [A]1658
contig referenceCPro [P]1658
80729062232 rs749332506 0.000 synonymousTAla [A]3657
contig referenceCAla [A]3657
80729072231 rs771062878 0.000 missenseGGly [G]2657
contig referenceCAla [A]2657
80729082230 rs774823007 0.000 missenseAThr [T]1657
contig referenceGAla [A]1657
80729182220 rs760046576 0.000 synonymousTPhe [F]3653
contig referenceCPhe [F]3653
80729332205 rs767855680 0.000 synonymousTPhe [F]3648
contig referenceCPhe [F]3648
80729432195 rs755062592 0.000 frame shift-Arg [R]2645
contig referenceTLeu [L]2645
80729482190 rs775748631 0.000 synonymousAArg [R]3643
contig referenceGArg [R]3643
80729502188 rs760324884 0.000 missenseGGly [G]1643
contig referenceCArg [R]1643
80731482187 rs766208536 0.000 synonymousAArg [R]3642
contig referenceGArg [R]3642
80731512184 rs751578748 0.000 missenseGGlu [E]3641
contig referenceCAsp [D]3641
80731652170 rs574970914 0.000byCluster missenseGGly [G]1637
contig referenceCArg [R]1637
80731782157 rs781050679 0.000 synonymousTLeu [L]3632
contig referenceCLeu [L]3632
80731942141 rs753990212 0.000 missenseCThr [T]2627
contig referenceTIle [I]2627
80731962139 rs757499953 0.000 nonsenseA3626
contig referenceCCys [C]3626
80731982137 rs778912490 0.000 missenseGGly [G]1626
contig referenceTCys [C]1626
80731992136 rs745924877 0.000 synonymousAThr [T]3625
contig referenceGThr [T]3625
80732002135 rs772232919 0.000 missenseTMet [M]2625
contig referenceCThr [T]2625
80732152120 rs780420901 0.000 missenseAGln [Q]2620
contig referenceCPro [P]2620
80732202115 rs542074777 0.000byCluster synonymousAThr [T]3618
synonymousTThr [T]3618
contig referenceGThr [T]3618
80732272108 rs777140731 0.000 missenseCThr [T]2616
contig referenceTMet [M]2616
80732322103 rs761519997 0.000 synonymousTThr [T]3614
contig referenceCThr [T]3614
80732362099 rs769594722 0.000 missenseGGly [G]2613
contig referenceAGlu [E]2613
80732452090 rs773052129 0.000 missenseTIle [I]2610
contig referenceCThr [T]2610
80732492086 rs762361604 0.000 synonymousTLeu [L]1609
contig referenceCLeu [L]1609
80732652070 rs372142978 0.000byCluster YessynonymousAPro [P]3603
synonymousTPro [P]3603
contig referenceGPro [P]3603
80732702065 rs759520091 0.000 missenseTSer [S]1602
contig referenceCPro [P]1602
80732762059 rs767259265 0.000 synonymousAArg [R]1600
contig referenceCArg [R]1600
80732842051 rs752509098 0.000 missenseAGlu [E]2597
contig referenceCAla [A]2597
80732892046 rs755951693 0.000 synonymousTPhe [F]3595
contig referenceCPhe [F]3595
80732922043 rs765413716 0.000 synonymousTAsn [N]3594
contig referenceCAsn [N]3594
80732962039 rs750725440 0.000 missenseTLeu [L]2593
contig referenceCPro [P]2593
80733072028 rs758395110 0.000 synonymousTThr [T]3589
contig referenceCThr [T]3589
80733082027 rs780198295 0.000 missenseTIle [I]2589
contig referenceCThr [T]2589
80733142021 rs747410400 0.000 missenseGGly [G]2587
contig referenceAGlu [E]2587
80736632010 rs748849529 0.000 synonymousTThr [T]3583
contig referenceAThr [T]3583
80736941979 rs773921965 0.000 missenseTIle [I]2573
contig referenceCThr [T]2573
80737081965 rs745351859 0.000 synonymousCThr [T]3568
contig referenceTThr [T]3568
80737141959 rs771635328 0.000 synonymousCTyr [Y]3566
contig referenceTTyr [Y]3566
80737191954 rs757224692 0.000 frame shift-Asp [D]1565
contig referenceCArg [R]1565
80737231950 rs370446978 0.000byCluster YessynonymousALeu [L]3563
contig referenceGLeu [L]3563
80737251948 rs533761499 0.000With1000GenomeData0.0002 synonymousTLeu [L]1563
contig referenceCLeu [L]1563
80737351938 rs768375728 0.000 synonymousGThr [T]3559
contig referenceCThr [T]3559
80737561917 rs200345380 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGly [G]3552
contig referenceCGly [G]3552
80737571916 rs200687206 0.002 YesmissenseAAsp [D]2552
contig referenceGGly [G]2552
80756061904 rs145434489 0.000byCluster YesmissenseAGln [Q]2548
contig referenceGArg [R]2548
80756081902 rs779160373 0.000 synonymousAGly [G]3547
contig referenceGGly [G]3547
80756101900 rs374183106 N.D.byCluster YesmissenseAArg [R]1547
contig referenceGGly [G]1547
80756111899 rs750011889 0.000 synonymousALeu [L]3546
contig referenceGLeu [L]3546
80756141896 rs151044633 0.000 YessynonymousTLeu [L]3545
contig referenceCLeu [L]3545
80756231886 rs745366046 0.000 frame shift-Arg [R]2542
contig referenceAALys [K]2542
80756341876 rs139689690 0.000byCluster YesmissenseALys [K]1539
contig referenceGGlu [E]1539
80756381872 rs779492509 0.000 synonymousAVal [V]3537
contig referenceGVal [V]3537
80756501860 rs746502729 0.000 synonymousALeu [L]3533
contig referenceGLeu [L]3533
80756551855 rs768093512 0.000 missenseALys [K]1532
contig referenceGGlu [E]1532
80756561854 rs149967531 0.000byCluster YessynonymousAPro [P]3531
synonymousCPro [P]3531
contig referenceGPro [P]3531
80756571853 rs769562383 0.000 missenseTLeu [L]2531
contig referenceCPro [P]2531
80756591851 rs773168526 0.000 synonymousCAsp [D]3530
contig referenceTAsp [D]3530
80756631847 rs145046775 0.001byClusterbyFreq YesmissenseAAsp [D]2529
contig referenceGGly [G]2529
80756641846 rs772398163 0.000 missenseTCys [C]1529
contig referenceGGly [G]1529
80756701840 rs199545653 0.000byCluster YesmissenseAMet [M]1527
contig referenceGVal [V]1527
80756711839 rs200507128 0.002byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTAla [A]3526
contig referenceCAla [A]3526
80756731837 rs764136808 0.000 missenseAThr [T]1526
contig referenceGAla [A]1526
80756761834 rs367693196 0.000byCluster YesmissenseAThr [T]1525
contig referenceGAla [A]1525
80756771833 rs762230828 0.000 synonymousTAsp [D]3524
contig referenceCAsp [D]3524
80756781831 rs771523138 0.000 frame shiftGGly [G]1524
contig reference-Asp [D]1524
80756841826 rs150371678 0.006byClusterbyFreqWith1000GenomeData0.0030 YesmissenseTLeu [L]2522
contig referenceCPro [P]2522
80756931817 rs758813905 0.000 missenseGCys [C]2519
contig referenceATyr [Y]2519
80756951815 rs765987028 0.000 synonymousTThr [T]3518
contig referenceCThr [T]3518
80756961814 rs751283247 0.000 missenseTIle [I]2518
contig referenceCThr [T]2518
80757011809 rs754501270 0.000 synonymousAIle [I]3516
contig referenceCIle [I]3516
80757021808 rs112486552 0.500 YesmissenseCThr [T]2516
contig referenceTIle [I]2516
80757071803 rs201784530 0.002byCluster YessynonymousAThr [T]3514
contig referenceGThr [T]3514
80757081802 rs766621071 0.000 missenseTMet [M]2514
contig referenceCThr [T]2514
80757131797 rs756024083 0.000 synonymousCTyr [Y]3512
contig referenceTTyr [Y]3512
80761941774 rs749294264 0.000 missenseAMet [M]1505
contig referenceGVal [V]1505
80761951773 rs376324924 0.000byCluster YessynonymousAAla [A]3504
contig referenceGAla [A]3504
80761961772 rs141010860 0.000byCluster YesmissenseTVal [V]2504
contig referenceCAla [A]2504
80762071761 rs377021609 N.D. YesmissenseGGlu [E]3500
contig referenceTAsp [D]3500
80762101758 rs371016744 0.000byCluster YessynonymousTArg [R]3499
contig referenceCArg [R]3499
80762111757 rs768784091 0.000 missenseAHis [H]2499
contig referenceGArg [R]2499
80762121756 rs368323729 0.000byCluster YesmissenseTCys [C]1499
contig referenceCArg [R]1499
80762151753 rs144747081 0.001byClusterbyFreq YesmissenseCHis [H]1498
contig referenceTTyr [Y]1498
80762261742 rs769930502 0.000 missenseAHis [H]2494
contig referenceCPro [P]2494
80762301738 rs146699913 0.000byCluster YessynonymousTLeu [L]1493
contig referenceCLeu [L]1493
80762441724 rs763468558 0.000 missenseAHis [H]2488
contig referenceGArg [R]2488
80762461722 rs541196633 0.000With1000GenomeData0.0002 missenseCAsp [D]3487
synonymousAGlu [E]3487
contig referenceGGlu [E]3487
80762561712 rs759990141 0.000 missenseGGly [G]2484
contig referenceAAsp [D]2484
80762591709 rs374296227 0.000byCluster YesmissenseGSer [S]2483
contig referenceAAsn [N]2483
80762611707 rs752459387 0.000 synonymousTPro [P]3482
contig referenceCPro [P]3482
80762671701 rs760089048 0.000 synonymousTTyr [Y]3480
contig referenceCTyr [Y]3480
80762701698 rs763709963 0.000 synonymousGLeu [L]3479
contig referenceCLeu [L]3479
80762721696 rs753761029 0.000 missenseTPhe [F]1479
contig referenceCLeu [L]1479
80762731695 rs757292166 0.000 synonymousTSer [S]3478
contig referenceCSer [S]3478
80762761692 rs775205776 0.000 frame shift-Glu [E]3477
contig referenceCAsp [D]3477
80762761692 rs778803243 0.000 synonymousTAsp [D]3477
contig referenceCAsp [D]3477
80762771691 rs74435069 N.D.byCluster YesmissenseCAla [A]2477
contig referenceAAsp [D]2477
80762851683 rs750163569 0.000 synonymousALeu [L]3474
contig referenceCLeu [L]3474
80762911677 rs758255943 0.000 synonymousASer [S]3472
contig referenceGSer [S]3472
80762921676 rs781269323 0.000 missenseTLeu [L]2472
contig referenceCSer [S]2472
80763011667 rs140306846 0.000byCluster YesmissenseAGln [Q]2469
contig referenceGArg [R]2469
80763021666 rs559401066 0.000With1000GenomeData0.0002 missenseTTrp [W]1469
contig referenceCArg [R]1469
80763121656 rs529986835 0.000With1000GenomeData0.0002 synonymousAGly [G]3465
contig referenceGGly [G]3465
80763131655 rs145344421 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTVal [V]2465
contig referenceGGly [G]2465
80763151653 rs771402067 0.000 synonymousCAla [A]3464
contig referenceTAla [A]3464
80763221646 rs774958790 0.000 missenseAAsp [D]2462
contig referenceGGly [G]2462
80763291639 rs199880378 0.003byCluster YesmissenseAMet [M]1460
contig referenceGVal [V]1460
80763301638 rs563699979 0.000With1000GenomeData0.0002 synonymousTGly [G]3459
contig referenceCGly [G]3459
80763311637 rs774946794 0.000 missenseAAsp [D]2459
contig referenceGGly [G]2459
80763321636 rs760407503 0.000 missenseASer [S]1459
contig referenceGGly [G]1459
80766681611 rs746723399 0.000 frame shiftGAla [A]3451
contig reference-Leu [L]3451
80766681612 rs760658416 N.D. missenseTPhe [F]1451
contig referenceCLeu [L]1451
80766691611 rs746397963 0.000 synonymousAGly [G]3450
contig referenceGGly [G]3450
80766701610 rs772257172 0.000 missenseCAla [A]2450
contig referenceGGly [G]2450
80766751605 rs376969209 0.000byClusterWith1000GenomeData0.0002 YesmissenseCAsp [D]3448
missenseTAsp [D]3448
synonymousAGlu [E]3448
contig referenceGGlu [E]3448
80766891591 rs147992320 0.001byCluster YesmissenseAIle [I]1444
contig referenceGVal [V]1444
80766901590 rs141607656 0.002byClusterbyFreq YessynonymousTAla [A]3443
contig referenceCAla [A]3443
80766951585 rs764862348 0.000 missenseTTrp [W]1442
contig referenceCArg [R]1442
80767011579 rs150272126 0.001byCluster YesmissenseTPhe [F]1440
contig referenceAIle [I]1440
80767111569 rs138930786 0.001byCluster YessynonymousAGln [Q]3436
contig referenceGGln [Q]3436
80767161564 rs369807670 0.000byCluster YesmissenseAIle [I]1435
contig referenceGVal [V]1435
80767261554 rs751328572 0.000 synonymousTThr [T]3431
contig referenceCThr [T]3431
80769921533 rs763328506 0.000 frame shiftCGln [Q]3425
contig reference-Lys [K]3425
80770001526 rs774333332 0.000 missenseTLeu [L]2422
contig referenceCPro [P]2422
80770101516 rs759325064 0.000 missenseGVal [V]1419
contig referenceAMet [M]1419
80770191507 rs143232699 0.000byCluster YesmissenseTTyr [Y]1416
contig referenceAAsn [N]1416
80770251501 rs777878859 N.D. missenseAMet [M]1414
contig referenceCLeu [L]1414
80770341492 rs754003951 0.000 synonymousTLeu [L]1411
contig referenceCLeu [L]1411
80770351491 rs757522470 0.000 synonymousTCys [C]3410
contig referenceCCys [C]3410
80770361490 rs138729161 0.006byClusterbyFreqWith1000GenomeData0.0028 YesmissenseTPhe [F]2410
contig referenceGCys [C]2410
80770451481 rs750484880 0.000 missenseGGly [G]2407
contig referenceAGlu [E]2407
80770511475 rs369593974 N.D. YesmissenseCThr [T]2405
contig referenceTIle [I]2405
80770621464 rs377100934 0.000byCluster YessynonymousAGlu [E]3401
contig referenceGGlu [E]3401
80770731453 rs752176414 0.000 missenseTTyr [Y]1398
contig referenceCHis [H]1398
80770761450 rs562084711 N.D. missenseAThr [T]1397
contig referenceGAla [A]1397
80770801446 rs755324929 0.000 synonymousAAla [A]3395
contig referenceCAla [A]3395
80770821444 rs201810996 0.000byClusterWith1000GenomeData0.0002 YesmissenseTSer [S]1395
contig referenceGAla [A]1395
80770841424 rs771446138 0.000 frame shift-Gly [G]2388
contig reference(19bp)Ala [A]2388
80770861440 rs112835279 0.013byClusterbyFreqWith1000GenomeData0.0068 YessynonymousTHis [H]3393
contig referenceCHis [H]3393
80770921434 rs200660582 0.000byClusterWith1000GenomeData0.0002 YessynonymousTTyr [Y]3391
contig referenceCTyr [Y]3391
80771001426 rs777344454 0.000 missenseALys [K]1389
contig referenceGGlu [E]1389
80771011425 rs373873829 0.000byCluster YessynonymousAAla [A]3388
contig referenceGAla [A]3388
80771021424 rs202128350 0.000byClusterWith1000GenomeData0.0002 YesmissenseTVal [V]2388
contig referenceCAla [A]2388
80771051421 rs546922801 0.000With1000GenomeData0.0002 missenseGCys [C]2387
contig referenceATyr [Y]2387
80771051408 rs774756645 0.000 frame shift-Cys [C]1383
contig reference(14bp)Thr [T]1383
80771061419 rs759653224 0.000 frame shiftCLeu [L]3387
contig reference-Tyr [Y]3387
80771081418 rs759484732 0.000 missenseAHis [H]2386
contig referenceGArg [R]2386
80771091417 rs750066836 0.000byCluster missenseTCys [C]1386
contig referenceCArg [R]1386
80771121414 rs781409869 N.D. frame shift-Tyr [Y]1385
contig referenceGVal [V]1385
80771151410 rs767548961 0.000 ACGThr [T]3383
80771161410 rs775295867 0.000 synonymousAThr [T]3383
contig referenceGThr [T]3383
80771171409 rs760428119 0.000 missenseTMet [M]2383
contig referenceCThr [T]2383
80771221404 rs752836292 0.000 frame shift-Arg [R]3382
contig referenceCLys [K]3382
80771271399 rs765474214 0.000 synonymousTLeu [L]1380
contig referenceCLeu [L]1380
80771281398 rs750668635 0.000 synonymousALeu [L]3379
synonymousCLeu [L]3379
synonymousTLeu [L]3379
contig referenceGLeu [L]3379
80771391387 rs752051700 0.000 missenseCArg [R]1376
contig referenceTTrp [W]1376
80771551371 rs755561122 0.000 synonymousTLeu [L]3370
contig referenceGLeu [L]3370
80771581368 rs181293386 0.001byFreqWith1000GenomeData0.0004 YessynonymousTPhe [F]3369
contig referenceCPhe [F]3369
80771641362 rs753070490 0.000 synonymousTPro [P]3367
contig referenceCPro [P]3367
80771901336 rs756498568 0.000 missenseGGly [G]1359
contig referenceASer [S]1359
80794111317 rs753215009 0.000 missenseTIle [I]3352
contig referenceGMet [M]3352
80794171311 rs144280751 0.001byCluster YessynonymousALys [K]3350
contig referenceGLys [K]3350
80794251303 rs764382022 0.000 missenseCGln [Q]1348
contig referenceGGlu [E]1348
80794271301 rs145726040 0.000byClusterWith1000GenomeData0.0002 YesmissenseTLeu [L]2347
contig referenceCPro [P]2347
80794471281 rs756936055 0.000 synonymousTLeu [L]3340
contig referenceCLeu [L]3340
80794681260 rs556716205 0.000With1000GenomeData0.0002 synonymousALys [K]3333
contig referenceGLys [K]3333
80794721256 rs745360904 0.000 missenseAGln [Q]2332
contig referenceGArg [R]2332
80794771251 rs142246997 0.001 YesmissenseAArg [R]3330
contig referenceCSer [S]3330
80794801248 rs757960452 0.000 synonymousTLeu [L]3329
contig referenceCLeu [L]3329
80794821246 rs780035905 0.000 missenseTPhe [F]1329
contig referenceCLeu [L]1329
80794891239 rs376447477 0.000byClusterWith1000GenomeData0.0002 YessynonymousAThr [T]3326
contig referenceCThr [T]3326
80794931235 rs768438282 0.000 missenseGArg [R]2325
contig referenceCPro [P]2325
80795131215 rs151015645 0.006byClusterbyFreqWith1000GenomeData0.0030 YessynonymousTTyr [Y]3318
contig referenceCTyr [Y]3318
80797811176 rs750141504 0.000 synonymousGGln [Q]3305
contig referenceAGln [Q]3305
80797961161 rs139953473 0.000byCluster YesmissenseTAsp [D]3300
contig referenceGGlu [E]3300
80798011156 rs779441233 0.000 missenseTCys [C]1299
contig referenceGGly [G]1299
80798071150 rs746912969 0.000 missenseCLeu [L]1297
contig referenceTPhe [F]1297
80798101147 rs143465858 0.000 YesmissenseAThr [T]1296
contig referenceCPro [P]1296
80798121145 rs754900276 0.000 missenseTVal [V]2295
contig referenceCAla [A]2295
80798151142 rs781226888 0.000 missenseCAla [A]2294
contig referenceTVal [V]2294
80798161141 rs200167862 0.000byClusterWith1000GenomeData0.0002 YesmissenseAMet [M]1294
missenseCLeu [L]1294
contig referenceGVal [V]1294
80798171140 rs774652987 0.000 missenseCIle [I]3293
contig referenceGMet [M]3293
80798191138 rs746108687 0.000 missenseGVal [V]1293
contig referenceAMet [M]1293
80798221135 rs772145083 0.000 missenseTTyr [Y]1292
contig referenceGAsp [D]1292
80798381119 rs775464598 0.000 missenseTAsn [N]3286
contig referenceGLys [K]3286
80798501106 rs760916106 0.000 frame shiftAAsp [D]2283
contig reference-Ile [I]2283
80798511106 rs760851368 0.000 missenseAGln [Q]2282
contig referenceGArg [R]2282
80798521105 rs764486354 0.000 missenseGGly [G]1282
contig referenceCArg [R]1282
80798591098 rs371049079 0.000byCluster YessynonymousTArg [R]3279
contig referenceCArg [R]3279
80798631094 rs762160514 0.000 missenseAHis [H]2278
contig referenceGArg [R]2278
80798641093 rs765590034 0.000 missenseTCys [C]1278
contig referenceCArg [R]1278
80798651092 rs146734511 0.000byCluster YessynonymousTIle [I]3277
contig referenceCIle [I]3277
80798671090 rs762615258 0.000 missenseCLeu [L]1277
contig referenceAIle [I]1277
80798731084 rs765870768 0.000 missenseTCys [C]1275
contig referenceGGly [G]1275
80798741083 rs375219074 0.000byCluster YessynonymousGPro [P]3274
synonymousTPro [P]3274
contig referenceCPro [P]3274
80798781079 rs780974660 0.000 missenseGSer [S]2273
contig referenceAAsn [N]2273
80798831074 rs140336976 0.000byCluster YessynonymousTGly [G]3271
contig referenceCGly [G]3271
80798851072 rs755918478 0.000 missenseCArg [R]1271
contig referenceGGly [G]1271
80798911066 rs532842455 0.000With1000GenomeData0.0002 missenseGVal [V]1269
contig referenceCLeu [L]1269
80799141043 rs777735405 0.000 missenseTVal [V]2261
contig referenceAAsp [D]2261
80799191038 rs746050773 0.000 synonymousCAla [A]3259
contig referenceAAla [A]3259
80799211036 rs772154804 0.000 missenseAThr [T]1259
contig referenceGAla [A]1259
80799301027 rs369354541 N.D. YesmissenseALys [K]1256
contig referenceGGlu [E]1256
80802361014 rs367679510 0.000byClusterWith1000GenomeData0.0002 YessynonymousTSer [S]3251
contig referenceCSer [S]3251
80802391011 rs762729933 0.000 synonymousAVal [V]3250
contig referenceCVal [V]3250
8080255995 rs766164699 0.000 missenseAAsp [D]2245
contig referenceGGly [G]2245
8080256994 rs752870717 0.000 missenseASer [S]1245
contig referenceGGly [G]1245
8080257993 rs780370363 N.D. synonymousCPro [P]3244
contig referenceTPro [P]3244
8080271979 rs760921311 0.000 missenseGGly [G]1240
contig referenceAArg [R]1240
8080272978 rs764267552 0.000 missenseGMet [M]3239
contig referenceTIle [I]3239
8080274976 rs371937340 0.000byCluster YesmissenseGVal [V]1239
contig referenceAIle [I]1239
8080281969 rs757339578 0.000 synonymousCLeu [L]3236
contig referenceGLeu [L]3236
8080283967 rs779471165 0.000 missenseAMet [M]1236
contig referenceCLeu [L]1236
8080298952 rs576310715 0.001byFreqWith1000GenomeData0.0004 missenseAAsn [N]1231
contig referenceCHis [H]1231
8080311939 rs758779735 0.000 synonymousTLeu [L]3226
contig referenceGLeu [L]3226
8080316934 rs780587561 0.000 missenseASer [S]1225
contig referenceGGly [G]1225
8080318932 rs746618137 0.000 missenseAHis [H]2224
contig referenceGArg [R]2224
8080325925 rs768392623 0.000 missenseGGlu [E]1222
contig referenceALys [K]1222
8080660909 rs768245229 0.000 frame shift-Trp [W]3217
contig referenceCMet [M]3217
8080660909 rs771852954 0.000 synonymousGPro [P]3216
contig referenceCPro [P]3216
8080665904 rs149907642 0.000 YesmissenseCArg [R]1215
contig referenceGGly [G]1215
8080669900 rs775181820 0.000 synonymousTArg [R]3213
contig referenceCArg [R]3213
8080670899 rs746859791 0.000 missenseTLeu [L]2213
contig referenceGArg [R]2213
8080674895 rs769882996 0.000 missenseAIle [I]1212
contig referenceGVal [V]1212
8080688881 rs773626846 0.000 missenseALys [K]2207
contig referenceCThr [T]2207
8080705864 rs763119821 0.000 synonymousAArg [R]3201
contig referenceCArg [R]3201
8080708861 rs766567874 0.000 synonymousALeu [L]3200
contig referenceCLeu [L]3200
8080710859 rs774939071 0.000 missenseGVal [V]1200
contig referenceCLeu [L]1200
8080725844 rs200516538 0.000byClusterWith1000GenomeData0.0002 YesmissenseCLeu [L]1195
contig referenceTPhe [F]1195
8080741828 rs768113112 0.000 missenseALys [K]3189
contig referenceCAsn [N]3189
8080743826 rs752984193 0.000 missenseTTyr [Y]1189
contig referenceAAsn [N]1189
8080747822 rs201081065 0.000byClusterWith1000GenomeData0.0002 YessynonymousTLeu [L]3187
contig referenceCLeu [L]3187
8080763806 rs144923268 0.000byCluster YesmissenseTLeu [L]2182
contig referenceCPro [P]2182
8080770799 rs753494453 0.000 missenseAAsn [N]1180
missenseCHis [H]1180
contig referenceTTyr [Y]1180
8080773796 rs778419446 0.000 missenseASer [S]1179
contig referenceGGly [G]1179
8080776793 rs750336528 0.000 missenseGAsp [D]1178
contig referenceAAsn [N]1178
8080884788 rs779255821 0.000 missenseCAla [A]2176
contig referenceAGlu [E]2176
8080885787 rs149039053 0.000byClusterWith1000GenomeData0.0002 YesmissenseALys [K]1176
contig referenceGGlu [E]1176
8080889783 rs758794951 N.D. synonymousAArg [R]3174
contig referenceGArg [R]3174
8080890782 rs555210541 0.000byCluster missenseCPro [P]2174
contig referenceGArg [R]2174
8080891781 rs374197590 0.000byCluster YesmissenseTTrp [W]1174
contig referenceCArg [R]1174
8080892780 rs367768676 0.000byCluster YessynonymousTAsn [N]3173
contig referenceCAsn [N]3173
8080897775 rs143010639 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAThr [T]1172
contig referenceCPro [P]1172
8080907765 rs776951535 0.000 synonymousAArg [R]3168
contig referenceGArg [R]3168
8080909763 rs762211950 0.000 missenseGGly [G]1168
contig referenceAArg [R]1168
8080916756 rs764854763 0.000 synonymousCPro [P]3165
contig referenceGPro [P]3165
8080924748 rs750156655 0.000 missenseTCys [C]1163
contig referenceCArg [R]1163
8080931741 rs375567713 0.000byCluster YessynonymousTPro [P]3160
contig referenceCPro [P]3160
8080940731 rs780867565 0.000 frame shiftATGTCys [C]2158
contig reference-His [H]2158
8080944728 rs558784979 0.000With1000GenomeData0.0002 missenseGCys [C]2156
contig referenceATyr [Y]2156
8080959713 rs138646793 0.000byCluster YesmissenseTLeu [L]2151
contig referenceCPro [P]2151
8080960712 rs754993887 0.000 missenseTSer [S]1151
contig referenceCPro [P]1151
8080961711 rs767601043 0.000 synonymousCLeu [L]3150
contig referenceTLeu [L]3150
8081106695 rs781612729 0.000 missenseGArg [R]2145
contig referenceAHis [H]2145
8081125676 rs748667187 0.000 missenseAThr [T]1139
contig referenceGAla [A]1139
8081132667 rs749617913 0.000 -1136
8081135666 rs769999992 0.000 synonymousAGlu [E]3135
contig referenceGGlu [E]3135
8081151650 rs773652735 0.000 missenseGArg [R]2130
contig referenceTLeu [L]2130
8081158643 rs368425810 0.000byCluster YesmissenseAIle [I]1128
contig referenceGVal [V]1128
8081160641 rs141890029 0.001byClusterbyFreq YesmissenseTLeu [L]2127
contig referenceCPro [P]2127
8081161640 rs72842957 0.021byClusterbyFreqWith1000GenomeData0.0108 YesmissenseTSer [S]1127
contig referenceCPro [P]1127
8081169632 rs138503921 0.000byCluster YesmissenseTVal [V]2124
contig referenceAAsp [D]2124
8081178623 rs767153499 0.000 missenseTIle [I]2121
contig referenceCThr [T]2121
8086018611 rs771206612 0.000 missenseTIle [I]2117
contig referenceCThr [T]2117
8086023606 rs368442508 N.D. YesmissenseTAsp [D]3115
contig referenceGGlu [E]3115
8086025604 rs778654200 0.000 missenseALys [K]1115
contig referenceGGlu [E]1115
8086027602 rs745541957 0.000 missenseAGln [Q]2114
contig referenceGArg [R]2114
8086033596 rs775109077 0.000 missenseGGly [G]2112
contig referenceCAla [A]2112
8086043586 rs536446862 0.000byCluster missenseALys [K]1109
contig referenceGGlu [E]1109
8086044585 rs116399915 0.007byClusterbyFreqWith1000GenomeData0.0034 YessynonymousTTyr [Y]3108
contig referenceCTyr [Y]3108
8086045584 rs776497268 0.000 missenseGCys [C]2108
contig referenceATyr [Y]2108
8086067562 rs200663524 0.002byClusterbyFreqWith1000GenomeData0.0008 YesmissenseAThr [T]1101
contig referenceGAla [A]1101
8086075554 rs765029307 0.000 missenseGArg [R]298
contig referenceAHis [H]298
8086081548 rs372039363 0.000byClusterWith1000GenomeData0.0002 YesmissenseCThr [T]296
contig referenceTIle [I]296
8086084545 rs150641093 0.000byClusterWith1000GenomeData0.0002 YesmissenseAHis [H]295
missenseCPro [P]295
contig referenceGArg [R]295
8086085544 rs371166120 0.000byCluster YesmissenseTCys [C]195
contig referenceCArg [R]195
8086088541 rs8077661 0.018byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0092 YesmissenseASer [S]194
contig referenceGGly [G]194
8086089540 rs778279426 0.000 synonymousTAsn [N]393
contig referenceCAsn [N]393
8086090539 rs76178338 N.D.byCluster YesmissenseCThr [T]293
contig referenceAAsn [N]293
8086099530 rs149354596 0.000byCluster YesmissenseATyr [Y]290
contig referenceGCys [C]290
8086102527 rs757596043 0.000 missenseAAsn [N]289
contig referenceTIle [I]289
8086104525 rs779456276 0.000 synonymousAGln [Q]388
contig referenceGGln [Q]388
8086109520 rs746274871 0.000 missenseAMet [M]187
contig referenceGVal [V]187
8086126503 rs771828866 0.000 missenseGArg [R]281
contig referenceCPro [P]281
8086132497 rs770975614 N.D. missenseGArg [R]279
contig referenceALys [K]279
8086134495 rs779912696 0.000 synonymousGPro [P]378
contig referenceCPro [P]378
8086146483 rs74896368 0.008byClusterbyFreqWith1000GenomeData0.0040 YessynonymousTTyr [Y]374
contig referenceCTyr [Y]374
8086148481 rs374767138 0.000byCluster YesmissenseCHis [H]174
contig referenceTTyr [Y]174
8086150479 rs368952341 N.D. YesmissenseAGln [Q]273
contig referenceGArg [R]273
8086154475 rs527442532 0.000With1000GenomeData0.0002 missenseALys [K]172
contig referenceGGlu [E]172
8086160469 rs761674738 0.000 missenseAAsn [N]170
contig referenceCHis [H]170
8086165464 rs769533529 0.000 missenseAHis [H]268
contig referenceGArg [R]268
8086166463 rs772959657 0.000 missenseTCys [C]168
contig referenceCArg [R]168
8086174455 rs542947562 0.000With1000GenomeData0.0002 missenseAAsn [N]265
missenseCThr [T]265
contig referenceTIle [I]265
8086176453 rs775638513 0.000 synonymousTLeu [L]364
contig referenceCLeu [L]364
8086180449 rs760751535 0.000 missenseGGly [G]263
contig referenceAGlu [E]263
8086202427 rs764105296 0.000 nonsenseT156
contig referenceCGln [Q]156
8086205424 rs561140227 0.001byFreqWith1000GenomeData0.0004 missenseAMet [M]155
contig referenceGVal [V]155
8086206423 rs140358107 0.002byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAThr [T]354
synonymousTThr [T]354
contig referenceCThr [T]354
8086207422 rs139490887 0.000 YesmissenseTIle [I]254
contig referenceCThr [T]254
8086210419 rs750808105 0.000 missenseGCys [C]253
contig referenceATyr [Y]253
8086212417 rs758902900 0.000 missenseCHis [H]352
contig referenceGGln [Q]352
8086216413 rs779784019 0.000 missenseAAsp [D]251
contig referenceGGly [G]251
8086217412 rs746652209 0.000 missenseTCys [C]151
contig referenceGGly [G]151
8087296408 rs200707254 0.000byClusterWith1000GenomeData0.0002 YessynonymousAAla [A]349
contig referenceGAla [A]349
8087297407 rs143526675 0.000byCluster YesmissenseTVal [V]249
contig referenceCAla [A]249
8087299405 rs146260899 0.000byCluster YessynonymousAGly [G]348
contig referenceGGly [G]348
8087300404 rs139307593 0.000byCluster YesmissenseAGlu [E]248
contig referenceGGly [G]248
8087301403 rs773802967 0.000 missenseTTrp [W]148
contig referenceGGly [G]148
8087302402 rs763581339 0.000 synonymousAThr [T]347
contig referenceTThr [T]347
8087308396 rs117483056 0.004byClusterbyFreqWith1000GenomeData0.0022 YessynonymousCPhe [F]345
contig referenceTPhe [F]345
8087311393 rs772297732 N.D. missenseAGlu [E]344
contig referenceCAsp [D]344
8087342362 rs751847216 0.000 missenseGArg [R]234
contig referenceAHis [H]234
8087345358 rs776983399 0.000 frame shift-Pro [P]133
contig referenceAGSer [S]133
8087346358 rs760002259 0.000 missenseTCys [C]133
contig referenceASer [S]133
8087347357 rs767070837 0.000 missenseCAsp [D]332
contig referenceGGlu [E]332
8087353351 rs150962362 0.000byCluster YessynonymousGGln [Q]330
contig referenceAGln [Q]330
8087369335 rs745915626 0.000 missenseAAsn [N]225
contig referenceCThr [T]225
8087372332 rs201575829 0.002byCluster YesmissenseCPro [P]224
contig referenceTLeu [L]224
8087387317 rs140795969 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGln [Q]219
contig referenceGArg [R]219
8087388316 rs757119807 0.000 missenseTTrp [W]119
contig referenceCArg [R]119
8087390314 rs778972337 0.000 missenseTIle [I]218
contig referenceCThr [T]218
8087395309 rs149687727 0.000byClusterWith1000GenomeData0.0002 YessynonymousASer [S]316
contig referenceGSer [S]316
8087396308 rs147784568 0.000byCluster YesmissenseTLeu [L]216
contig referenceCSer [S]216
8087401303 rs3027308 0.079byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.0409 YessynonymousTLeu [L]314
contig referenceCLeu [L]314
8087404300 rs201251213 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGlu [E]313
synonymousTAsp [D]313
contig referenceCAsp [D]313
8087406298 rs775449310 0.000 missenseAAsn [N]113
missenseCHis [H]113
contig referenceGAsp [D]113
8087407297 rs746947962 0.000 synonymousGThr [T]312
synonymousTThr [T]312
contig referenceCThr [T]312
8087411293 rs774989155 0.000 missenseCAla [A]211
contig referenceGGly [G]211
8087419285 rs759751280 0.000 synonymousAVal [V]38
contig referenceGVal [V]38
8087437267 rs767935607 0.000 synonymousTAla [A]32
contig referenceCAla [A]32
8087442262 rs752308567 0.000 missenseGVal [V]11
contig referenceAMet [M]11

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