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dbSNP

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SNP linked to Gene (geneID:4983) 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): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017029555.1minus strandXP_016885044.1reverseNT_011651.18GRCh38.p7<- currently shown
XM_011530961.1minus strandXP_011529263.1reverseNT_011651.18GRCh38.p7View snp on GeneModel
XM_006724653.2minus strandXP_006724716.1reverseNT_011651.18GRCh38.p7View snp on GeneModel
XM_005262270.1minus strandXP_005262327.1reverseNT_011651.18GRCh38.p7View snp on GeneModel
NM_002547.2minus strandNP_002538.1reverseNT_011651.18GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_011651.18XM_017029555.1XP_016885044.1reverseminus strand439, 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
680484322695 rs1338314674 N.D. nonsenseT1801
contig referenceGGlu [E]1801
680484362691 rs912478701 N.D. synonymousGGly [G]3799
contig referenceAGly [G]3799
680484482679 rs939842783 N.D. synonymousAGly [G]3795
contig referenceCGly [G]3795
680484492678 rs779865429 0.000 missenseAAsp [D]2795
contig referenceGGly [G]2795
680484552672 rs1246654442 N.D. missenseTPhe [F]2793
contig referenceCSer [S]2793
680525462663 rs759961141 0.000 missenseTIle [I]2790
contig referenceCThr [T]2790
680525472662 rs910473895 N.D. missenseGAla [A]1790
contig referenceAThr [T]1790
680525502659 rs1227630759 N.D. missenseCGln [Q]1789
contig referenceALys [K]1789
680525512658 rs1271576196 N.D. synonymousAArg [R]3788
contig referenceGArg [R]3788
680525522657 rs192628082 0.000byClusterbyFreqWith1000GenomeData0.0005 missenseAGln [Q]2788
contig referenceGArg [R]2788
680525532656 rs148208753 0.001byClusterbyFreq missenseTTrp [W]1788
contig referenceCArg [R]1788
680525592650 rs1292294196 N.D. missenseAThr [T]1786
contig referenceGAla [A]1786
680525662643 rs1490811466 N.D. missenseGLeu [L]3783
contig referenceTPhe [F]3783
680525672642 rs1377768153 N.D. missenseCSer [S]2783
contig referenceTPhe [F]2783
680525822627 rs767063308 0.000 missenseTPhe [F]2778
contig referenceCSer [S]2778
680536472616 rs775838595 0.000 synonymousGSer [S]3774
contig referenceTSer [S]3774
680536482615 rs1290086485 N.D. missenseTPhe [F]2774
contig referenceCSer [S]2774
680536532610 rs1403350105 N.D. synonymousGThr [T]3772
contig referenceAThr [T]3772
680536542609 rs1451445409 N.D. missenseALys [K]2772
missenseTIle [I]2772
contig referenceCThr [T]2772
680536562607 rs1336997066 N.D. synonymousTIle [I]3771
contig referenceCIle [I]3771
680536622601 rs748176965 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousAGly [G]3769
contig referenceGGly [G]3769
680536652598 rs1389490730 N.D. synonymousAAla [A]3768
contig referenceGAla [A]3768
680536662597 rs200659608 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseTVal [V]2768
contig referenceCAla [A]2768
680536782585 rs1489528757 N.D. missenseCAla [A]2764
contig referenceTVal [V]2764
680536812582 rs772662176 0.000 missenseCThr [T]2763
contig referenceTIle [I]2763
680536832580 rs760181290 0.000byFreq synonymousCAsp [D]3762
contig referenceTAsp [D]3762
680536892574 rs1261328704 N.D. synonymousALys [K]3760
contig referenceGLys [K]3760
680537012562 rs1215178038 N.D. synonymousALys [K]3756
contig referenceGLys [K]3756
680537042559 rs766009632 0.000 synonymousGGln [Q]3755
contig referenceAGln [Q]3755
680537142549 rs753584407 0.000 missenseGGly [G]2752
contig referenceCAla [A]2752
680537172546 rs759228742 0.000 missenseTVal [V]2751
contig referenceCAla [A]2751
680537202543 rs765116282 0.000 missenseAGln [Q]2750
missenseTLeu [L]2750
contig referenceGArg [R]2750
680537212542 rs371280317 0.000byCluster missenseTTrp [W]1750
contig referenceCArg [R]1750
680537242539 rs1251742712 N.D. missenseGGly [G]1749
contig referenceTCys [C]1749
680537342529 rs773549283 0.000byClusterWith1000GenomeData0.0003 synonymousCPro [P]3745
contig referenceAPro [P]3745
680537382525 rs777864085 0.000 missenseAHis [H]2744
missenseTLeu [L]2744
contig referenceCPro [P]2744
680537392524 rs751624974 0.000 missenseGAla [A]1744
contig referenceCPro [P]1744
680537402523 rs1468837677 N.D. synonymousAArg [R]3743
contig referenceGArg [R]3743
680537452518 rs757481934 0.000 missenseTLeu [L]1742
contig referenceGVal [V]1742
680537472516 rs1165039406 N.D. missenseGArg [R]2741
contig referenceCPro [P]2741
680537482515 rs1407870012 N.D. missenseGAla [A]1741
contig referenceCPro [P]1741
680537522511 rs781261311 0.000 synonymousAArg [R]3739
synonymousGArg [R]3739
synonymousTArg [R]3739
contig referenceCArg [R]3739
680537532510 rs770024232 0.000 missenseAHis [H]2739
contig referenceGArg [R]2739
680537542509 rs780427271 0.000byFreq missenseTCys [C]1739
contig referenceCArg [R]1739
680537562507 rs749677351 0.000 missenseCThr [T]2738
contig referenceTIle [I]2738
680537592504 rs1428838601 N.D. missenseCThr [T]2737
contig referenceTIle [I]2737
680537752488 rs769095907 0.000 missenseCArg [R]1732
contig referenceGGly [G]1732
680537762487 rs1454570957 N.D. synonymousCPro [P]3731
contig referenceAPro [P]3731
680537802483 rs993015202 N.D. missenseTLeu [L]2730
contig referenceCPro [P]2730
680537832480 rs774903073 0.000 missenseAGln [Q]2729
contig referenceGArg [R]2729
680537842479 rs1265135988 N.D. missenseTTrp [W]1729
synonymousAArg [R]1729
contig referenceCArg [R]1729
680537902473 rs1305957266 N.D. missenseCGln [Q]1727
missenseGGlu [E]1727
contig referenceALys [K]1727
680537922471 rs746837001 0.001With1000GenomeData0.0003 missenseAAsn [N]2726
contig referenceGSer [S]2726
680537992464 rs760163301 0.000byFreq missenseGGly [G]1724
contig referenceASer [S]1724
680538012462 rs374431961 0.000byClusterbyFreq missenseGGly [G]2723
contig referenceAAsp [D]2723
680538062457 rs1481831546 N.D. synonymousCAsp [D]3721
contig referenceTAsp [D]3721
680538082455 rs776116527 0.000 missenseAAsn [N]1721
contig referenceGAsp [D]1721
680538092454 rs1268835438 N.D. synonymousAGly [G]3720
contig referenceGGly [G]3720
680638562450 rs1005219976 N.D. missenseTVal [V]2719
contig referenceAGlu [E]2719
680638572449 rs1017925742 N.D. nonsenseT1719
contig referenceGGlu [E]1719
680638612445 rs1309590503 N.D. missenseGGln [Q]3717
contig referenceCHis [H]3717
680638662440 rs1220746365 N.D. missenseTTyr [Y]1716
contig referenceCHis [H]1716
680638682438 rs367788584 0.001byClusterbyFreq missenseTVal [V]2715
contig referenceCAla [A]2715
680638722434 rs1490646513 N.D. missenseAMet [M]1714
contig referenceCLeu [L]1714
680638732433 rs1457764717 N.D. synonymousTPro [P]3713
contig referenceCPro [P]3713
680638772429 rs200508660 0.000byClusterbyFreq missenseAGln [Q]2712
contig referenceGArg [R]2712
680638782428 rs1247929748 N.D. missenseTTrp [W]1712
contig referenceCArg [R]1712
680638802426 rs1030545345 N.D. missenseTLeu [L]2711
contig referenceCPro [P]2711
680638812425 rs1422309868 N.D. missenseTSer [S]1711
contig referenceCPro [P]1711
680638862420 rs1185535809 N.D. missenseGArg [R]2709
contig referenceCPro [P]2709
680638922414 rs749646656 0.000 missenseGArg [R]2707
contig referenceALys [K]2707
680638942412 rs1450999032 N.D. synonymousCIle [I]3706
contig referenceAIle [I]3706
680638982408 rs374050535 0.000byCluster missenseGArg [R]2705
contig referenceAHis [H]2705
680638992407 rs1269213262 N.D. missenseTTyr [Y]1705
contig referenceCHis [H]1705
680639002406 rs1384454480 N.D. missenseGLeu [L]3704
contig referenceCPhe [F]3704
680639042402 rs1425210982 N.D. missenseTPhe [F]2703
contig referenceCSer [S]2703
680639082398 rs779366703 0.000byClusterbyFreq missenseAThr [T]1702
contig referenceCPro [P]1702
680639092397 rs1190380708 N.D. synonymousAThr [T]3701
contig referenceCThr [T]3701
680639102396 rs1343441591 N.D. missenseTIle [I]2701
contig referenceCThr [T]2701
680639142390 rs748411808 0.000byFreq -2699
680639182388 rs1205149479 N.D. synonymousTPro [P]3698
contig referenceCPro [P]3698
680639192387 rs1430143446 N.D. missenseTLeu [L]2698
contig referenceCPro [P]2698
680639282378 rs748689779 0.000 missenseTVal [V]2695
contig referenceGGly [G]2695
680639312375 rs142772349 0.000byCluster missenseGArg [R]2694
contig referenceCPro [P]2694
680639372369 rs745381936 0.000 missenseAHis [H]2692
contig referenceCPro [P]2692
680639432363 rs769419459 0.000 missenseGSer [S]2690
contig referenceAAsn [N]2690
680639502356 rs199985543 0.000byClusterbyFreq missenseAThr [T]1688
missenseTSer [S]1688
contig referenceGAla [A]1688
680639562350 rs139691746 0.001byClusterbyFreqWith1000GenomeData0.0011 missenseTSer [S]1686
contig referenceCPro [P]1686
680639642342 rs1386562132 N.D. frame shift-Arg [R]2683
contig referenceALys [K]2683
680639692337 rs1366007763 N.D. synonymousCGly [G]3681
contig referenceGGly [G]3681
680639752331 rs1300359418 N.D. missenseGGlu [E]3679
contig referenceTAsp [D]3679
680639802326 rs1282812430 N.D. nonsenseT1678
contig referenceCGln [Q]1678
680639832323 rs143713841 0.002byClusterbyFreqWith1000GenomeData0.0005 missenseAMet [M]1677
contig referenceCLeu [L]1677
680639882318 rs1023161053 N.D. missenseTPhe [F]2675
contig referenceCSer [S]2675
680639892317 rs761774320 0.000 missenseGAla [A]1675
contig referenceTSer [S]1675
680639902316 rs150579646 0.000byCluster synonymousAVal [V]3674
contig referenceGVal [V]3674
680639912315 rs750463187 0.000 missenseAGlu [E]2674
contig referenceTVal [V]2674
680639932313 rs139638690 0.000byCluster missenseCPhe [F]3673
contig referenceGLeu [L]3673
680639962310 rs1242244215 N.D. missenseTAsn [N]3672
contig referenceGLys [K]3672
680640012305 rs1174983531 N.D. missenseAArg [R]1671
contig referenceGGly [G]1671
680640042302 rs149759545 0.000byCluster missenseAMet [M]1670
contig referenceGVal [V]1670
680640052301 rs372445201 0.000byClusterbyFreq synonymousTAsp [D]3669
contig referenceCAsp [D]3669
680640092297 rs754104441 0.000 missenseCAla [A]2668
contig referenceTVal [V]2668
680640152291 rs928784828 N.D. missenseTLeu [L]2666
contig referenceCPro [P]2666
680640162290 rs200183838 0.000byClusterbyFreqWith1000GenomeData missenseGAla [A]1666
contig referenceCPro [P]1666
680640202286 rs1246350843 N.D. synonymousTPro [P]3664
contig referenceCPro [P]3664
680640222284 rs1457276416 N.D. missenseTSer [S]1664
contig referenceCPro [P]1664
680640232283 rs1236331678 N.D. synonymousAGlu [E]3663
contig referenceGGlu [E]3663
680640262280 rs779204929 0.000 synonymousALeu [L]3662
contig referenceGLeu [L]3662
680640332273 rs1391005870 N.D. missenseAAsp [D]2660
contig referenceGGly [G]2660
680640342272 rs1450703291 N.D. missenseCArg [R]1660
contig referenceGGly [G]1660
680640372269 rs1196797694 N.D. missenseTTyr [Y]1659
contig referenceGAsp [D]1659
680640432263 rs1336332293 N.D. missenseGVal [V]1657
contig referenceAIle [I]1657
680640522254 rs1462768193 N.D. missenseCArg [R]1654
contig referenceASer [S]1654
680640572249 rs748534360 0.000 missenseTPhe [F]2652
contig referenceCSer [S]2652
680640592247 rs1454941281 N.D. synonymousALys [K]3651
contig referenceGLys [K]3651
680640672239 rs1278200946 N.D. missenseAArg [R]1649
missenseTTrp [W]1649
contig referenceGGly [G]1649
680640752231 rs758882344 0.000 missenseAAsn [N]2646
missenseGSer [S]2646
contig referenceCThr [T]2646
680640802226 rs375926425 N.D. synonymousAGly [G]3644
contig referenceGGly [G]3644
680640872219 rs1224895307 N.D. missenseALys [K]2642
contig referenceGArg [R]2642
680640942212 rs778146150 0.000 missenseTPhe [F]1640
contig referenceAIle [I]1640
680640992207 rs745376525 0.000 missenseGArg [R]2638
contig referenceTLeu [L]2638
680641072199 rs1310743410 N.D. missenseAGln [Q]3635
contig referenceCHis [H]3635
680641102196 rs769248083 0.000 missenseTHis [H]3634
contig referenceAGln [Q]3634
680641182188 rs1461563916 N.D. missenseTSer [S]1632
contig referenceCPro [P]1632
680641212184 rs1189332940 N.D. frame shiftCGln [Q]3631
contig reference-Lys [K]3631
680641222184 rs775261678 0.000byFreq synonymousAPro [P]3630
synonymousGPro [P]3630
contig referenceCPro [P]3630
680641232183 rs866834118 N.D.byCluster missenseAHis [H]2630
contig referenceCPro [P]2630
680641242182 rs1469556939 N.D. missenseAThr [T]1630
contig referenceCPro [P]1630
680641262180 rs1402310920 N.D. missenseAHis [H]2629
contig referenceCPro [P]2629
680641272179 rs760598866 0.000byClusterWith1000GenomeData0.0003 missenseAThr [T]1629
contig referenceCPro [P]1629
680641352171 rs1450515636 N.D. missenseAAsn [N]2626
contig referenceGSer [S]2626
680641372169 rs888216239 N.D. synonymousTSer [S]3625
contig referenceCSer [S]3625
680641402166 rs1317505476 N.D. synonymousAThr [T]3624
contig referenceCThr [T]3624
680641412165 rs375730489 0.000byClusterbyFreq missenseGSer [S]2624
contig referenceCThr [T]2624
680641472159 rs1158998442 N.D. missenseTIle [I]2622
contig referenceCThr [T]2622
680641522153 rs772423438 0.000 GAALys [K]2619
680641522154 rs1438903400 N.D. missenseALys [K]3620
contig referenceTAsn [N]3620
680641532153 rs761529691 0.000 missenseCThr [T]2620
contig referenceAAsn [N]2620
680641552151 rs914327070 N.D. synonymousAPro [P]3619
contig referenceGPro [P]3619
680641562150 rs1175919760 N.D. missenseTLeu [L]2619
contig referenceCPro [P]2619
680641642142 rs1407090127 N.D. synonymousCHis [H]3616
contig referenceTHis [H]3616
680641652141 rs1416422479 N.D. missenseTLeu [L]2616
contig referenceAHis [H]2616
680641662140 rs767424142 0.000byFreq missenseTTyr [Y]1616
contig referenceCHis [H]1616
680641702136 rs773079148 0.000 missenseGMet [M]3614
contig referenceCIle [I]3614
680641732133 rs146588152 0.001byClusterbyFreqWith1000GenomeData0.0019 synonymousGGlu [E]3613
contig referenceAGlu [E]3613
680731552125 rs778332586 0.000byFreq missenseALys [K]1611
missenseCGln [Q]1611
contig referenceGGlu [E]1611
680731562124 rs368803937 0.001byClusterbyFreq synonymousTSer [S]3610
contig referenceCSer [S]3610
680731582122 rs1430158390 N.D. missenseGGly [G]1610
contig referenceASer [S]1610
680731672113 rs755620198 0.000 missenseAMet [M]1607
contig referenceCLeu [L]1607
680731712109 rs1166385331 N.D. synonymousCSer [S]3605
contig referenceTSer [S]3605
680731722108 rs779671497 0.000 missenseTPhe [F]2605
contig referenceCSer [S]2605
680731802100 rs1316326744 N.D. missenseGLeu [L]3602
contig referenceCPhe [F]3602
680731862094 rs372951407 0.000byCluster synonymousTThr [T]3600
contig referenceGThr [T]3600
680731872093 rs189644845 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseTMet [M]2600
contig referenceCThr [T]2600
680731962084 rs754769099 N.D. missenseAGln [Q]2597
contig referenceGArg [R]2597
680731972083 rs778715656 0.000 synonymousAArg [R]1597
contig referenceCArg [R]1597
680731982082 rs747973715 0.000byFreq synonymousTLeu [L]3596
contig referenceGLeu [L]3596
680732052075 rs139612280 0.000byClusterbyFreqWith1000GenomeData0.0005 missenseAHis [H]2594
contig referenceGArg [R]2594
680732062074 rs144345572 0.000byCluster missenseTCys [C]1594
contig referenceCArg [R]1594
680732072073 rs1033951931 N.D. synonymousALys [K]3593
contig referenceGLys [K]3593
680732162064 rs760485744 0.000 synonymousAThr [T]3590
contig referenceGThr [T]3590
680732172063 rs770872865 0.000 missenseTMet [M]2590
contig referenceCThr [T]2590
680732262054 rs992365532 N.D. missenseCThr [T]2587
missenseGArg [R]2587
contig referenceALys [K]2587
680732402039 rs773508976 0.000byFreq GACThr [T]2582
680732472033 rs776634211 0.000 missenseAGln [Q]2580
contig referenceGArg [R]2580
680732482032 rs765440100 0.000 missenseTTrp [W]1580
synonymousAArg [R]1580
contig referenceCArg [R]1580
680732522028 rs1426025169 N.D. synonymousTPro [P]3578
contig referenceGPro [P]3578
680732532027 rs1221737481 N.D. missenseTLeu [L]2578
contig referenceCPro [P]2578
680732642016 rs752918613 0.000byFreq synonymousAPro [P]3574
synonymousTPro [P]3574
contig referenceGPro [P]3574
680732652015 rs764408357 0.000 missenseTLeu [L]2574
contig referenceCPro [P]2574
680732662014 rs950818602 N.D. missenseTSer [S]1574
contig referenceCPro [P]1574
680732692011 rs984868981 N.D. missenseAThr [T]1573
contig referenceGAla [A]1573
680732722008 rs1191253744 N.D. missenseAThr [T]1572
contig referenceGAla [A]1572
680732732007 rs751985783 0.000 synonymousTSer [S]3571
contig referenceCSer [S]3571
680732871993 rs757790995 0.000 missenseAThr [T]1567
contig referenceCPro [P]1567
680732891991 rs1263567831 N.D. missenseAAsp [D]2566
contig referenceGGly [G]2566
680732911989 rs938141769 N.D. synonymousGLeu [L]3565
contig referenceALeu [L]3565
680732941986 rs1170838041 N.D. synonymousCTyr [Y]3564
contig referenceTTyr [Y]3564
680968741976 rs751031568 0.000byFreq missenseAAsp [D]2561
contig referenceGGly [G]2561
680968841966 rs1293629721 N.D. missenseALys [K]1558
contig referenceGGlu [E]1558
680968851965 rs754504347 0.000byFreq synonymousAIle [I]3557
synonymousTIle [I]3557
contig referenceCIle [I]3557
680968871963 rs764608956 0.000byFreq missenseGVal [V]1557
contig referenceAIle [I]1557
680968881962 rs1033071630 N.D. synonymousGLeu [L]3556
contig referenceALeu [L]3556
680968901960 rs776559233 0.000byClusterbyFreqWith1000GenomeData0.0005 synonymousTLeu [L]1556
contig referenceCLeu [L]1556
680968911959 rs376148458 0.000byClusterbyFreq YesmissenseGMet [M]3555
contig referenceAIle [I]3555
680969061944 rs1313225701 N.D. synonymousTAsn [N]3550
contig referenceCAsn [N]3550
680969221928 rs777485718 0.000 missenseCThr [T]2545
missenseGSer [S]2545
contig referenceAAsn [N]2545
680969321918 rs1236873845 N.D. missenseTSer [S]1542
contig referenceGAla [A]1542
680969331917 rs746802846 0.000byFreq synonymousTAla [A]3541
contig referenceCAla [A]3541
680969351915 rs757099706 0.000 missenseTSer [S]1541
contig referenceGAla [A]1541
680969391911 rs781083988 0.000 synonymousCThr [T]3539
contig referenceTThr [T]3539
680969431907 rs141368794 0.000byClusterbyFreq YesmissenseGGly [G]2538
contig referenceAAsp [D]2538
680969511899 rs202060504 0.000byClusterWith1000GenomeData0.0003 YessynonymousCAla [A]3535
contig referenceTAla [A]3535
680969551895 rs369473230 0.000byCluster YesmissenseALys [K]2534
contig referenceGArg [R]2534
680969621888 rs953339084 N.D. missenseGVal [V]1532
contig referenceCLeu [L]1532
680969631887 rs1358922442 N.D. synonymousGThr [T]3531
contig referenceCThr [T]3531
680969691881 rs775382934 0.000byFreq synonymousAGly [G]3529
contig referenceGGly [G]3529
680969801870 rs1258785451 N.D. missenseAIle [I]1526
contig referenceGVal [V]1526
680969851865 rs749400002 0.000 missenseALys [K]2524
contig referenceTMet [M]2524
680969861864 rs768698142 0.000byFreq missenseGVal [V]1524
contig referenceAMet [M]1524
680969871863 rs1181743475 N.D. missenseALys [K]3523
contig referenceCAsn [N]3523
680969881862 rs1305214428 N.D. missenseGSer [S]2523
contig referenceAAsn [N]2523
680969931857 rs1362650253 N.D. synonymousTPro [P]3521
contig referenceCPro [P]3521
680969951855 rs1457340816 N.D. missenseTSer [S]1521
contig referenceCPro [P]1521
680969961854 rs1160863385 N.D. synonymousTThr [T]3520
contig referenceCThr [T]3520
680969971853 rs1287296404 N.D. missenseAAsn [N]2520
contig referenceCThr [T]2520
680970021848 rs185424105 0.000byClusterWith1000GenomeData0.0003 YessynonymousCLeu [L]3518
contig referenceTLeu [L]3518
680970211829 rs1469006616 N.D. missenseGGly [G]2512
contig referenceAGlu [E]2512
681118541820 rs780926761 0.000byFreq missenseGSer [S]2509
contig referenceAAsn [N]2509
681118561818 rs1479897203 N.D. synonymousAVal [V]3508
contig referenceCVal [V]3508
681118681806 rs745685598 0.000byFreq synonymousCIle [I]3504
contig referenceAIle [I]3504
681118741800 rs142413712 0.000byClusterbyFreqWith1000GenomeData0.0003 YessynonymousALeu [L]3502
contig referenceTLeu [L]3502
681118761798 rs1460300853 N.D. missenseTPhe [F]1502
contig referenceCLeu [L]1502
681118831791 rs1263244907 N.D. missenseAIle [I]3499
contig referenceGMet [M]3499
681118901784 rs1297484256 N.D. missenseAGln [Q]2497
contig referenceGArg [R]2497
681118921782 rs1160817099 N.D. synonymousTAsn [N]3496
contig referenceCAsn [N]3496
681118981776 rs1371061934 N.D. synonymousGGlu [E]3494
contig referenceAGlu [E]3494
681119011773 rs780048413 0.000byFreq synonymousGPro [P]3493
contig referenceAPro [P]3493
681119241750 rs749328005 0.000 missenseTTyr [Y]1486
contig referenceCHis [H]1486
681119301744 rs920735000 N.D. missenseAThr [T]1484
contig referenceGAla [A]1484
681119311743 rs1344984779 N.D. synonymousGGly [G]3483
contig referenceAGly [G]3483
681119331741 rs5918811 N.D. YesmissenseAArg [R]1483
contig referenceGGly [G]1483
681119371737 rs376845562 0.000byCluster YessynonymousAArg [R]3481
synonymousTArg [R]3481
contig referenceCArg [R]3481
681119451729 rs977230508 N.D. missenseAAsn [N]1479
contig referenceGAsp [D]1479
681119461728 rs1303723594 N.D. synonymousCLeu [L]3478
contig referenceGLeu [L]3478
681119501724 rs768840940 0.000 missenseGSer [S]2477
contig referenceAAsn [N]2477
681131821713 rs987929396 N.D. synonymousTAla [A]3473
contig referenceCAla [A]3473
681131991696 rs1295413743 N.D. missenseCGln [Q]1468
contig referenceGGlu [E]1468
681132081687 rs151319546 0.000byClusterbyFreq YesmissenseTPhe [F]1465
contig referenceCLeu [L]1465
681132101685 rs753866423 0.000 missenseCThr [T]2464
contig referenceGArg [R]2464
681132131682 rs1298777482 N.D. missenseGCys [C]2463
contig referenceATyr [Y]2463
681132151680 rs1344772981 N.D. synonymousAThr [T]3462
contig referenceCThr [T]3462
681132191676 rs754900332 0.000 missenseCThr [T]2461
contig referenceTMet [M]2461
681132201675 rs946434604 N.D. missenseGVal [V]1461
contig referenceAMet [M]1461
681132271668 rs1018904285 N.D. synonymousGGlu [E]3458
contig referenceAGlu [E]3458
681192641639 rs1347174519 N.D. synonymousCLeu [L]1449
contig referenceTLeu [L]1449
681192711632 rs761317951 0.000 synonymousTThr [T]3446
contig referenceCThr [T]3446
681192721631 rs983275009 N.D. missenseGSer [S]2446
contig referenceCThr [T]2446
681192791624 rs1431665776 N.D. missenseTSer [S]1444
contig referenceAThr [T]1444
681192831620 rs760389758 N.D. synonymousAIle [I]3442
contig referenceTIle [I]3442
681192971606 rs370209377 0.000byClusterbyFreq YesmissenseGGly [G]1438
contig referenceASer [S]1438
681193041599 rs750137442 0.000 synonymousCPhe [F]3435
contig referenceTPhe [F]3435
681193121591 rs760367156 0.000 missenseAIle [I]1433
contig referenceGVal [V]1433
681193131590 rs1479962922 N.D. missenseGGlu [E]3432
contig referenceTAsp [D]3432
681193141589 rs1266556607 N.D. missenseTVal [V]2432
contig referenceAAsp [D]2432
681193191584 rs908637656 N.D. synonymousGPro [P]3430
contig referenceAPro [P]3430
681193211582 rs1314620558 N.D. missenseTSer [S]1430
contig referenceCPro [P]1430
681193221581 rs766240354 0.000 synonymousTCys [C]3429
contig referenceCCys [C]3429
681193251578 rs753595551 0.000 synonymousGLys [K]3428
contig referenceALys [K]3428
681193301573 rs1466013323 N.D. missenseAThr [T]1427
contig referenceCPro [P]1427
681929251564 rs942810312 N.D. missenseGVal [V]1424
contig referenceTPhe [F]1424
681929261563 rs770220435 0.000 synonymousTAla [A]3423
contig referenceCAla [A]3423
681929321557 rs776044159 0.000byFreq synonymousALeu [L]3421
contig referenceGLeu [L]3421
681929681521 rs747647299 0.000 synonymousTArg [R]3409
contig referenceCArg [R]3409
681929691520 rs771624663 0.000 missenseAHis [H]2409
contig referenceGArg [R]2409
681929771512 rs772711707 0.000 synonymousAGly [G]3406
contig referenceGGly [G]3406
681929861503 rs1231127797 N.D. synonymousALys [K]3403
contig referenceGLys [K]3403
681929921497 rs760323021 0.000 synonymousTGly [G]3401
contig referenceGGly [G]3401
681938931492 rs756532108 0.000 missenseGGlu [E]1400
contig referenceALys [K]1400
681938991486 rs1404555003 N.D. missenseCGln [Q]1398
contig referenceGGlu [E]1398
681939071478 rs150084635 0.000byClusterbyFreq YesmissenseGSer [S]2395
contig referenceAAsn [N]2395
681939081477 rs749837689 0.000byFreq missenseGAsp [D]1395
contig referenceAAsn [N]1395
681939111474 rs998600108 N.D. missenseGVal [V]1394
contig referenceAIle [I]1394
681939151470 rs1161981599 N.D. synonymousALys [K]3392
contig referenceGLys [K]3392
681939201465 rs769185816 0.000byFreq missenseTTrp [W]1391
contig referenceAArg [R]1391
681939211464 rs1410537358 N.D. synonymousGVal [V]3390
contig referenceCVal [V]3390
681939311454 rs1179286852 N.D. missenseGCys [C]2387
contig referenceTPhe [F]2387
681939381447 rs772717054 0.000byFreq missenseAMet [M]1385
contig referenceGVal [V]1385
681939411444 rs1250966787 N.D. missenseALys [K]1384
contig referenceGGlu [E]1384
681939441441 rs1479154085 N.D. missenseCHis [H]1383
contig referenceAAsn [N]1383
681939451440 rs746503152 0.000 synonymousGLeu [L]3382
contig referenceALeu [L]3382
681939521433 rs770608210 0.000 missenseCThr [T]2380
contig referenceTMet [M]2380
681944751422 rs1221775443 N.D. synonymousGLys [K]3376
contig referenceALys [K]3376
681944761421 rs756441985 0.000byFreq missenseGArg [R]2376
contig referenceALys [K]2376
681944871410 rs1383899887 N.D. missenseGArg [R]3372
contig referenceCSer [S]3372
681944961401 rs780360491 0.000 missenseGMet [M]3369
contig referenceCIle [I]3369
681971891395 rs770395065 0.000 synonymousGGlu [E]3367
contig referenceAGlu [E]3367
681971991385 rs780864799 0.000 missenseGGly [G]2364
contig referenceAAsp [D]2364
681972171367 rs745478793 0.000byFreq missenseAGln [Q]2358
contig referenceTLeu [L]2358
681972191365 rs1188867776 N.D. missenseTSer [S]3357
contig referenceGArg [R]3357
681972231361 rs961752058 N.D. missenseALys [K]2356
contig referenceGArg [R]2356
681972301354 rs775368827 0.000byFreq missenseAThr [T]1354
contig referenceGAla [A]1354
681972611323 rs1473510512 N.D. synonymousGPro [P]3343
contig referenceAPro [P]3343
681972621322 rs1450234218 N.D. missenseTLeu [L]2343
contig referenceCPro [P]2343
682016361302 rs780149034 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousTAsp [D]3336
contig referenceCAsp [D]3336
682016381300 rs1160936926 N.D. missenseAAsn [N]1336
contig referenceGAsp [D]1336
682016481290 rs138413992 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousAArg [R]3332
contig referenceGArg [R]3332
682016561282 rs1465380570 N.D. missenseAAsn [N]1330
contig referenceGAsp [D]1330
682016571281 rs779919118 0.000 synonymousTIle [I]3329
contig referenceCIle [I]3329
682016671271 rs1160403612 N.D. missenseTMet [M]2326
contig referenceCThr [T]2326
682016681270 rs1404224297 N.D. missenseGAla [A]1326
contig referenceAThr [T]1326
682016721266 rs200276161 0.000byClusterbyFreq synonymousAArg [R]3324
contig referenceGArg [R]3324
682016881250 rs1407989673 N.D. missenseGArg [R]2319
contig referenceALys [K]2319
682017081230 rs976445732 N.D. synonymousAGly [G]3312
contig referenceGGly [G]3312
682065761224 rs1228267169 N.D. synonymousALys [K]3310
contig referenceGLys [K]3310
682065991201 rs1290762003 N.D. missenseGVal [V]1303
contig referenceAMet [M]1303
682066001200 rs778528264 0.000 synonymousCPro [P]3302
contig referenceTPro [P]3302
682066151185 rs1263235791 N.D. synonymousGThr [T]3297
contig referenceAThr [T]3297
682066191181 rs773186698 0.000 missenseCThr [T]2296
contig referenceALys [K]2296
682066211179 rs747066356 0.000 synonymousAThr [T]3295
contig referenceCThr [T]3295
682066371163 rs1254574532 N.D. missenseGArg [R]2290
contig referenceAGln [Q]2290
682066471153 rs771036239 0.000 missenseCHis [H]1287
contig referenceTTyr [Y]1287
682066531147 rs776722078 0.000byFreq missenseAMet [M]1285
contig referenceGVal [V]1285
682066571143 rs759626983 0.000 synonymousTSer [S]3283
contig referenceCSer [S]3283
682066581142 rs866050049 N.D.byCluster missenseTPhe [F]2283
contig referenceCSer [S]2283
682101571122 rs12838002 0.006byClusterbyFreq missenseTAsp [D]3276
contig referenceGGlu [E]3276
682101601119 rs1190145514 N.D. synonymousGGln [Q]3275
contig referenceAGln [Q]3275
682101621117 rs762363895 0.000 missenseALys [K]1275
contig referenceCGln [Q]1275
682101691110 rs1472351413 N.D. synonymousTLeu [L]3272
contig referenceCLeu [L]3272
682101771101 rs771374674 0.000 frame shiftAArg [R]3270
contig reference-Gly [G]3270
682101821097 rs1032424043 N.D. missenseCThr [T]2268
contig referenceTIle [I]2268
682101841095 rs768155757 0.000 synonymousCThr [T]3267
contig referenceTThr [T]3267
682101941085 rs368229175 0.000byCluster missenseAGlu [E]2264
contig referenceGGly [G]2264
682101981081 rs868467767 N.D. missenseTSer [S]1263
contig referenceCPro [P]1263
682102011078 rs753223452 0.000 missenseAIle [I]1262
contig referenceCLeu [L]1262
682102091070 rs201453412 0.000byClusterWith1000GenomeData0.0003 missenseTIle [I]2259
contig referenceCThr [T]2259
682102141065 rs777790475 0.000byClusterWith1000GenomeData0.0003 synonymousGPro [P]3257
contig referenceCPro [P]3257
682102191060 rs967322537 N.D. missenseCPro [P]1256
contig referenceGAla [A]1256
682102571022 rs370987669 0.000byCluster missenseAGln [Q]2243
contig referenceGArg [R]2243
682102761003 rs1217748735 N.D. missenseGAsp [D]1237
contig referenceAAsn [N]1237
68210280999 rs375948969 0.000byClusterbyFreq synonymousCThr [T]3235
contig referenceAThr [T]3235
68212123981 rs200538472 N.D.byCluster synonymousGGln [Q]3229
contig referenceAGln [Q]3229
68212131973 rs1272418130 N.D. missenseGGlu [E]1227
contig referenceCGln [Q]1227
68212132972 rs759714173 0.000byClusterWith1000GenomeData0.0003 synonymousGGln [Q]3226
contig referenceAGln [Q]3226
68212142962 rs1205917597 N.D. missenseAGln [Q]2223
contig referenceCPro [P]2223
68212152952 rs866641104 N.D.byCluster missenseTTyr [Y]1220
contig referenceGAsp [D]1220
68212154950 rs377476011 N.D.byCluster missenseGArg [R]2219
contig referenceAGln [Q]2219
68212161943 rs1275286719 N.D. missenseTPhe [F]1217
contig referenceCLeu [L]1217
68212167937 rs1229320601 N.D. missenseAMet [M]1215
contig referenceGVal [V]1215
68212192912 rs1450028379 N.D. synonymousCSer [S]3206
contig referenceTSer [S]3206
68213864889 rs1442797776 N.D. missenseAThr [T]1199
contig referenceCPro [P]1199
68213865888 rs146966053 0.000byCluster synonymousAGlu [E]3198
contig referenceGGlu [E]3198
68213875878 rs969763753 N.D. missenseGSer [S]2195
contig referenceAAsn [N]2195
68213880873 rs375249587 0.004byClusterbyFreqWith1000GenomeData0.0042 synonymousALys [K]3193
contig referenceGLys [K]3193
68213886867 rs1271936807 N.D. synonymousTSer [S]3191
contig referenceCSer [S]3191
68213887866 rs762516146 0.000 missenseATyr [Y]2191
contig referenceCSer [S]2191
68213897856 rs369826356 0.000byCluster missenseAIle [I]1188
contig referenceGVal [V]1188
68213903850 rs774039524 0.000 nonsenseT1186
contig referenceCGln [Q]1186
68213904849 rs761565393 0.000 synonymousTIle [I]3185
contig referenceCIle [I]3185
68213913840 rs1037258640 N.D. synonymousCVal [V]3182
contig referenceTVal [V]3182
68213915838 rs767305224 0.000 missenseAIle [I]1182
contig referenceGVal [V]1182
68213916837 rs750210193 0.000 synonymousCTyr [Y]3181
contig referenceTTyr [Y]3181
68213921832 rs898687129 N.D. missenseAAsn [N]1180
contig referenceGAsp [D]1180
68213930823 rs1247862355 N.D. missenseAThr [T]1177
contig referenceTSer [S]1177
68213931822 rs1450571836 N.D. missenseCAsp [D]3176
missenseTAsp [D]3176
contig referenceGGlu [E]3176
68213933820 rs1195955536 N.D. missenseALys [K]1176
contig referenceGGlu [E]1176
68213934819 rs756023603 0.000 synonymousTPhe [F]3175
contig referenceCPhe [F]3175
68213943810 rs1471534709 N.D. synonymousTHis [H]3172
contig referenceCHis [H]3172
68213951802 rs1162179843 N.D. missenseALys [K]1170
contig referenceGGlu [E]1170
68213952801 rs766235240 0.000 synonymousALys [K]3169
contig referenceGLys [K]3169
68213956797 rs1462750573 N.D. missenseGGly [G]2168
contig referenceAAsp [D]2168
68213966787 rs995655705 N.D. synonymousTLeu [L]1165
contig referenceCLeu [L]1165
68213972781 rs199810833 N.D.With1000GenomeData missenseTSer [S]1163
contig referenceGAla [A]1163
68234491776 rs138026999 0.000byCluster missenseGArg [R]2161
contig referenceAGln [Q]2161
68234523744 rs1156545585 N.D. synonymousTHis [H]3150
contig referenceCHis [H]3150
68234529738 rs773883911 0.000 synonymousTHis [H]3148
contig referenceCHis [H]3148
68234545722 rs921019645 N.D. missenseATyr [Y]2143
contig referenceCSer [S]2143
68234554713 rs761407540 0.000 missenseALys [K]2140
contig referenceGArg [R]2140
68234563704 rs767091477 0.000 missenseTVal [V]2137
contig referenceAAsp [D]2137
68234571696 rs1399979392 N.D. synonymousCPhe [F]3134
contig referenceTPhe [F]3134
68234577690 rs1239134423 N.D. missenseTAsn [N]3132
contig referenceGLys [K]3132
68234585682 rs1395445948 N.D. synonymousAArg [R]1130
contig referenceCArg [R]1130
68274748668 rs781642029 0.000byFreq missenseCAla [A]2125
contig referenceGGly [G]2125
68274753663 rs746334974 0.000 missenseCHis [H]3123
contig referenceAGln [Q]3123
68274763653 rs375650816 0.000byCluster missenseAGln [Q]2120
contig referenceGArg [R]2120
68274764652 rs1302379722 N.D. missenseTTrp [W]1120
contig referenceCArg [R]1120
68274768648 rs770308744 0.000 synonymousCAsn [N]3118
contig referenceTAsn [N]3118
68274773643 rs773794311 0.000 missenseALys [K]1117
contig referenceGGlu [E]1117
68274777639 rs747619048 0.000 synonymousAPro [P]3115
contig referenceCPro [P]3115
68274781635 rs771754685 0.000 missenseGArg [R]2114
contig referenceALys [K]2114
68274784632 rs1016807298 N.D. missenseCThr [T]2113
contig referenceTIle [I]2113
68274789627 rs765654561 0.000byClusterbyFreqWith1000GenomeData0.0005 synonymousALeu [L]3111
contig referenceGLeu [L]3111
68274802614 rs1365958838 N.D. missenseGSer [S]2107
contig referenceAAsn [N]2107
68274806610 rs377670900 0.000byCluster missenseTTyr [Y]1106
contig referenceCHis [H]1106
68274807609 rs770804956 0.001byFreq synonymousGVal [V]3105
contig referenceAVal [V]3105
68283057605 rs879220427 N.D. missenseCThr [T]2104
contig referenceTMet [M]2104
68283066596 rs1194077568 N.D. missenseALys [K]2101
contig referenceGArg [R]2101
68283083579 rs974436512 N.D. synonymousTAsn [N]395
contig referenceCAsn [N]395
68299002543 rs143598006 0.000byClusterbyFreq synonymousAIle [I]383
synonymousTIle [I]383
contig referenceCIle [I]383
68299014531 rs143062911 0.001byClusterbyFreqWith1000GenomeData0.0013 synonymousCAsp [D]379
contig referenceTAsp [D]379
68299017528 rs1230010238 N.D. synonymousCAsp [D]378
contig referenceTAsp [D]378
68299026519 rs1430361895 N.D. synonymousCThr [T]375
contig referenceTThr [T]375
68299029516 rs1162818894 N.D. synonymousTAsp [D]374
contig referenceCAsp [D]374
68299036509 rs763066236 0.000byFreq missenseCThr [T]272
contig referenceTIle [I]272
68299043502 rs1462220006 N.D. missenseTTyr [Y]170
contig referenceGAsp [D]170
68299047498 rs367608364 0.000byCluster synonymousAGln [Q]368
contig referenceGGln [Q]368
68299061484 rs751691169 0.000 synonymousTLeu [L]164
contig referenceCLeu [L]164
68299062483 rs761872953 0.000 synonymousAThr [T]363
synonymousTThr [T]363
contig referenceGThr [T]363
68299074471 rs767737764 0.000 synonymousGLys [K]359
contig referenceALys [K]359
68299084461 rs1034133483 N.D. missenseTVal [V]256
contig referenceCAla [A]256
68299086459 rs959773659 N.D. synonymousGSer [S]355
contig referenceTSer [S]355
68299092453 rs1420339389 N.D. synonymousCTyr [Y]353
contig referenceTTyr [Y]353
68432869446 rs374573197 0.000byClusterbyFreq missenseALys [K]251
contig referenceGArg [R]251
68432873442 rs367993068 0.000byCluster missenseCLeu [L]150
missenseGVal [V]150
contig referenceAMet [M]150
68432876439 rs775377990 0.000byFreq missenseAThr [T]149
missenseTSer [S]149
contig referenceGAla [A]149
68432886429 rs749139023 0.000byFreq synonymousAAla [A]345
contig referenceGAla [A]345
68432888427 rs148262378 0.002byClusterbyFreqWith1000GenomeData0.0003 missenseAThr [T]145
contig referenceGAla [A]145
68432895420 rs1369633341 N.D. synonymousTAsp [D]342
contig referenceCAsp [D]342
68432897418 rs774236370 0.000 missenseCHis [H]142
contig referenceGAsp [D]142
68432923392 rs767719249 0.000 missenseGSer [S]233
contig referenceAAsn [N]233
68432925390 rs955428556 N.D. synonymousGThr [T]332
contig referenceCThr [T]332
68432926389 rs1490279388 N.D. missenseAAsn [N]232
contig referenceCThr [T]232
68432949366 rs773459026 0.000 synonymousCCys [C]324
contig referenceTCys [C]324
68432958357 rs1309427725 N.D. synonymousAArg [R]321
contig referenceGArg [R]321
68432972343 rs1222994184 N.D. missenseTTyr [Y]117
contig referenceGAsp [D]117
68432973342 rs371759976 0.000byClusterbyFreq synonymousGPro [P]316
synonymousTPro [P]316
contig referenceCPro [P]316
68432976339 rs754237768 0.000 synonymousTSer [S]315
contig referenceCSer [S]315
68432980335 rs1207944737 N.D. missenseGGly [G]214
contig referenceAAsp [D]214
68432985330 rs755385772 0.000 synonymousTTyr [Y]312
contig referenceCTyr [Y]312
68432991324 rs1486054742 N.D. missenseGGlu [E]310
contig referenceCAsp [D]310
68432994321 rs1009625535 N.D. synonymousTSer [S]39
contig referenceCSer [S]39
68432996319 rs1408579184 N.D. missenseGGly [G]19
contig referenceASer [S]19
68433000315 rs150824131 0.000byCluster synonymousAGlu [E]37
contig referenceGGlu [E]37
68433009306 rs139546241 0.000byClusterbyFreq synonymousGPro [P]34
contig referenceCPro [P]34
68433010305 rs1271665223 N.D. missenseTLeu [L]24
contig referenceCPro [P]24
68433011304 rs1480516013 N.D. missenseGAla [A]14
contig referenceCPro [P]14
68433012303 rs751029060 0.000 synonymousCHis [H]33
contig referenceTHis [H]33
68433015300 rs756869601 0.000 synonymousCGly [G]32
contig referenceTGly [G]32
68433017298 rs1200813419 N.D. missenseCArg [R]12
contig referenceGGly [G]12