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dbSNP

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SNP linked to Gene (geneID:255189) 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_213600.3minus strandNP_998765.3reverseNT_010194.18GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_931786.1684, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
421415843040 rs541479097 N.D. -
421419492654 rs756324740 0.000 -
421419892637 rs753907831 0.000byFreq missenseAThr [T]1849
contig referenceGAla [A]1849
421419902636 rs757306034 0.000 synonymousAGly [G]3848
contig referenceGGly [G]3848
421420032623 rs372512124 0.000byClusterbyFreq missenseAGln [Q]2844
contig referenceGArg [R]2844
421420042622 rs202153550 0.000byClusterbyFreq missenseTTrp [W]1844
contig referenceCArg [R]1844
421420052621 rs780905266 0.000 synonymousCAla [A]3843
contig referenceTAla [A]3843
421420072608 rs777910550 0.000 -2839
421420122614 rs747969557 0.000 missenseCPro [P]2841
contig referenceAHis [H]2841
421420152611 rs370541651 0.000byClusterbyFreq missenseAGln [Q]2840
contig referenceGArg [R]2840
421420152610 rs749621003 0.000 AGAGAG [QRG]1840
421420162610 rs777741127 0.000byFreq missenseTTrp [W]1840
contig referenceCArg [R]1840
421420172608 rs771235025 0.000 frame shiftGGGlu [E]2839
contig reference-Asp [D]2839
421420182607 rs774774228 0.000 frame shiftCTGGGAla [A]1839
contig reference-Asp [D]1839
421420242602 rs374608204 0.000byCluster missenseTVal [V]2837
contig referenceCAla [A]2837
421420252601 rs770520830 0.000byFreq missenseAThr [T]1837
contig referenceGAla [A]1837
421420302596 rs774154051 0.000 missenseCPro [P]2835
contig referenceAGln [Q]2835
421420342592 rs202165113 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTPhe [F]1834
contig referenceCLeu [L]1834
421420342592 rs746388146 0.000byFreq frame shift-Ser [S]1834
contig referenceCLeu [L]1834
421420352591 rs771744557 0.000 synonymousAAla [A]3833
contig referenceCAla [A]3833
421420372589 rs775787567 0.000byFreq missenseAThr [T]1833
contig referenceGAla [A]1833
421420382588 rs761071213 0.000byCluster nonsenseA3832
synonymousTCys [C]3832
contig referenceCCys [C]3832
421420442582 rs200473956 0.002 YessynonymousALeu [L]3830
contig referenceGLeu [L]3830
421420472579 rs540737563 N.D.byCluster synonymousGThr [T]3829
contig referenceCThr [T]3829
421420492577 rs764559923 0.000 missenseGAla [A]1829
contig referenceAThr [T]1829
421420552571 rs377752838 0.000byClusterbyFreq YesmissenseAMet [M]1827
contig referenceGVal [V]1827
421420562570 rs655427 0.498byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.3994 YessynonymousTAsn [N]3826
contig referenceCAsn [N]3826
421420582568 rs375746396 0.000byClusterbyFreq YesmissenseGAsp [D]1826
contig referenceAAsn [N]1826
421420622564 rs750488438 0.000 synonymousALeu [L]3824
contig referenceGLeu [L]3824
421420672559 rs370233019 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1823
contig referenceGVal [V]1823
421420682558 rs141134667 0.000byClusterbyFreq YessynonymousTAsn [N]3822
contig referenceCAsn [N]3822
421420722554 rs373689525 0.000byCluster YesmissenseTPhe [F]2821
contig referenceATyr [Y]2821
421420752551 rs143445521 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseAGln [Q]2820
contig referenceGArg [R]2820
421420762550 rs528248701 0.001byClusterbyFreqWith1000GenomeData0.0002 nonsenseT1820
contig referenceCArg [R]1820
421420772549 rs753765043 0.000byFreq synonymousCSer [S]3819
contig referenceTSer [S]3819
421420792547 rs544780161 0.001byFreqWith1000GenomeData0.0002 missenseGGly [G]1819
contig referenceASer [S]1819
421420802546 rs778625779 0.000 synonymousTLeu [L]3818
contig referenceCLeu [L]3818
421420812545 rs745370600 0.000byFreq missenseCPro [P]2818
contig referenceTLeu [L]2818
421420832543 rs771664101 0.000 synonymousTAla [A]3817
contig referenceCAla [A]3817
421420842542 rs779737251 0.000byFreq missenseAAsp [D]2817
missenseGGly [G]2817
contig referenceCAla [A]2817
421420852541 rs931161923 N.D. missenseAThr [T]1817
contig referenceGAla [A]1817
421420872539 rs201437515 0.030byClusterbyFreq YesmissenseGGly [G]2816
contig referenceTVal [V]2816
421420932533 rs146727881 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAGln [Q]2814
contig referenceGArg [R]2814
421420942532 rs762365002 0.000byFreq missenseTTrp [W]1814
synonymousAArg [R]1814
contig referenceCArg [R]1814
421420952531 rs773319666 0.000 synonymousCTyr [Y]3813
contig referenceTTyr [Y]3813
421420962530 rs878865450 N.D. missenseTPhe [F]2813
contig referenceATyr [Y]2813
421421032523 rs866312311 N.D.byCluster missenseAAsn [N]1811
contig referenceGAsp [D]1811
421421062518 rs772627457 0.000 -2809
421421082518 rs763063941 0.000 missenseAHis [H]2809
contig referenceCPro [P]2809
421421122514 rs376000341 N.D. YesmissenseALys [K]1808
contig referenceGGlu [E]1808
421421142512 rs530535423 0.002byClusterbyFreqWith1000GenomeData0.0006 missenseGCys [C]2807
contig referenceATyr [Y]2807
421421162510 rs376761982 0.000byCluster YessynonymousTThr [T]3806
contig referenceCThr [T]3806
421421212505 rs200900711 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCLeu [L]1805
contig referenceTPhe [F]1805
421421382488 rs75560163 0.024byClusterbyFreqWith1000GenomeData0.0184 YesmissenseGArg [R]2799
contig referenceCPro [P]2799
421421392487 rs764578160 0.000 missenseTSer [S]1799
contig referenceCPro [P]1799
421421412485 rs757332904 0.000 missenseAAsn [N]2798
contig referenceCThr [T]2798
421421592467 rs778966730 0.000 missenseAAsp [D]2792
contig referenceTVal [V]2792
421421612465 rs750004767 0.000 synonymousCPhe [F]3791
contig referenceTPhe [F]3791
421421672459 rs757878138 0.000 synonymousAGly [G]3789
contig referenceGGly [G]3789
421421692457 rs779604693 0.000byFreq missenseAArg [R]1789
contig referenceGGly [G]1789
421421722454 rs746606427 0.000 missenseCLeu [L]1788
contig referenceTPhe [F]1788
421421752451 rs949391309 N.D. missenseAThr [T]1787
contig referenceGAla [A]1787
421421792447 rs768179406 0.000 missenseCAsp [D]3785
contig referenceGGlu [E]3785
421421802446 rs781604506 0.000byFreq missenseGGly [G]2785
contig referenceAGlu [E]2785
421421872439 rs748479183 0.000 missenseCPro [P]1783
contig referenceGAla [A]1783
421421922434 rs770333185 0.000 missenseGArg [R]2781
contig referenceAGln [Q]2781
421421952431 rs530370813 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2780
contig referenceGArg [R]2780
421421952430 rs774978493 0.000byFreq frame shift-Thr [T]1780
contig referenceCGArg [R]1780
421421962430 rs150441632 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT1780
contig referenceCArg [R]1780
421421972429 rs770973620 0.000 synonymousAGlu [E]3779
contig referenceGGlu [E]3779
421421992427 rs774453257 0.000 missenseCGln [Q]1779
contig referenceGGlu [E]1779
421422002426 rs138213395 0.007byClusterbyFreqWith1000GenomeData0.0016 YessynonymousCVal [V]3778
contig referenceGVal [V]3778
421425292420 rs199706767 0.001byClusterbyFreq YessynonymousGPro [P]3776
contig referenceAPro [P]3776
421425312418 rs761732195 0.000 missenseTSer [S]1776
contig referenceCPro [P]1776
421425382411 rs765059580 0.000 missenseAGln [Q]3773
contig referenceCHis [H]3773
421425402409 rs79982539 0.001byClusterbyFreqWith1000GenomeData0.0016 YesmissenseTTyr [Y]1773
contig referenceCHis [H]1773
421425412408 rs766194275 0.000 synonymousGThr [T]3772
contig referenceAThr [T]3772
421425432406 rs751128862 0.000 missenseGAla [A]1772
contig referenceAThr [T]1772
421425452404 rs143229349 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2771
missenseTLeu [L]2771
contig referenceGArg [R]2771
421425462403 rs376529914 0.000byClusterbyFreq YesmissenseTCys [C]1771
contig referenceCArg [R]1771
421425542395 rs138996971 0.000byClusterbyFreq YesmissenseAHis [H]2768
contig referenceGArg [R]2768
421425552394 rs560812368 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]1768
contig referenceCArg [R]1768
421425612388 rs749613877 0.000 missenseTPhe [F]1766
contig referenceGVal [V]1766
421425632386 rs757826870 0.000 missenseCPro [P]2765
contig referenceTLeu [L]2765
421425642385 rs779269058 0.000byFreq missenseGVal [V]1765
contig referenceCLeu [L]1765
421425662383 rs745984185 0.000byFreq missenseGArg [R]2764
contig referenceCPro [P]2764
421425682381 rs772239434 0.000 missenseALeu [L]3763
contig referenceCPhe [F]3763
421425702379 rs780430380 0.000 missenseCLeu [L]1763
contig referenceTPhe [F]1763
421425732376 rs369936851 0.000byClusterbyFreq YesmissenseTTyr [Y]1762
contig referenceCHis [H]1762
421425822367 rs768995045 0.000 missenseCLeu [L]1759
contig referenceAIle [I]1759
421425842365 rs373798047 0.000byClusterbyFreq YesmissenseAHis [H]2758
missenseGArg [R]2758
missenseTLeu [L]2758
contig referenceCPro [P]2758
421425852364 rs369694462 0.000byCluster YesmissenseTSer [S]1758
contig referenceCPro [P]1758
421425872362 rs867675482 N.D. missenseTPhe [F]2757
contig referenceCSer [S]2757
421425892360 rs202088845 0.000byCluster YessynonymousTArg [R]3756
contig referenceCArg [R]3756
421425902359 rs373084106 0.000byClusterbyFreq YesmissenseAHis [H]2756
contig referenceGArg [R]2756
421425912358 rs531064894 0.000byClusterbyFreq missenseTCys [C]1756
contig referenceCArg [R]1756
421425932356 rs763624804 0.000byFreq missenseTLeu [L]2755
contig referenceCPro [P]2755
421425952354 rs754282569 0.000 synonymousTAsp [D]3754
contig referenceCAsp [D]3754
421425962353 rs757518603 0.000 missenseTVal [V]2754
contig referenceAAsp [D]2754
421425972352 rs779506232 0.000 missenseAAsn [N]1754
contig referenceGAsp [D]1754
421426052344 rs376070556 0.000 YesmissenseGArg [R]2751
contig referenceALys [K]2751
421426092340 rs750894084 0.000 missenseAThr [T]1750
contig referenceGAla [A]1750
421426132336 rs370427145 0.000byCluster YessynonymousALeu [L]3748
contig referenceGLeu [L]3748
421426152334 rs373869053 0.000byCluster YesmissenseGVal [V]1748
contig referenceCLeu [L]1748
421426262323 rs28674123 0.032byClusterbyFreqWith1000GenomeData0.0078 YesmissenseAHis [H]2744
contig referenceGArg [R]2744
421426272322 rs768969803 0.000byFreq missenseTCys [C]1744
contig referenceCArg [R]1744
421426282321 rs781222461 0.000byFreq synonymousTAla [A]3743
contig referenceCAla [A]3743
421426292320 rs749137987 0.000 missenseTVal [V]2743
contig referenceCAla [A]2743
421426302319 rs749272100 0.000byFreq missenseAThr [T]1743
contig referenceGAla [A]1743
421426382311 rs918030428 N.D. missenseALys [K]2740
contig referenceTMet [M]2740
421426392310 rs1356410 0.379byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.1857 YesmissenseGVal [V]1740
contig referenceAMet [M]1740
421426402309 rs544965093 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTAsp [D]3739
contig referenceCAsp [D]3739
421426432306 rs771995073 0.000byFreq synonymousAGlu [E]3738
contig referenceGGlu [E]3738
421426462303 rs936650037 N.D. synonymousCPro [P]3737
contig referenceTPro [P]3737
421426492300 rs375575993 0.000byClusterbyFreq YessynonymousTGly [G]3736
contig referenceCGly [G]3736
421426502299 rs185974741 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsp [D]2736
contig referenceGGly [G]2736
421426522297 rs763832827 0.000 synonymousAVal [V]3735
contig referenceGVal [V]3735
421426542295 rs548267778 0.000byFreqWith1000GenomeData0.0002 missenseAMet [M]1735
contig referenceGVal [V]1735
421426572292 rs368423966 0.000byClusterbyFreq YesmissenseALys [K]1734
contig referenceGGlu [E]1734
421426582291 rs201484305 0.000byClusterbyFreqWith1000GenomeData YessynonymousTIle [I]3733
contig referenceCIle [I]3733
421426612288 rs750806057 0.000 synonymousTSer [S]3732
contig referenceCSer [S]3732
421426622287 rs138482995 0.000byClusterbyFreq YesmissenseTIle [I]2732
contig referenceGSer [S]2732
421426702279 rs763751858 0.000 frame shift-Ser [S]3730
contig referenceCPhe [F]3730
421426712278 rs945569470 N.D. missenseGArg [R]2729
missenseTLeu [L]2729
contig referenceCPro [P]2729
421426722277 rs1041214137 N.D. missenseTSer [S]1729
contig referenceCPro [P]1729
421426772272 rs115888024 0.002byClusterbyFreqWith1000GenomeData0.0028 YesmissenseAGlu [E]2727
contig referenceGGly [G]2727
421426802269 rs375597223 0.000byClusterbyFreq YesmissenseAGln [Q]2726
contig referenceGArg [R]2726
421426812268 rs754971082 0.000byFreq nonsenseT1726
contig referenceCArg [R]1726
421426882261 rs368905823 0.000byCluster YesmissenseGTrp [W]3723
contig referenceCCys [C]3723
421426892260 rs748256769 0.000 missenseATyr [Y]2723
contig referenceGCys [C]2723
421426922257 rs756343115 0.000 missenseGCys [C]2722
contig referenceATyr [Y]2722
421426932256 rs778744435 0.000 missenseGAsp [D]1722
contig referenceTTyr [Y]1722
421426972252 rs745634486 0.000 synonymousAGlu [E]3720
contig referenceGGlu [E]3720
421427052242 rs776179693 0.000 -2717
421427072242 rs144100358 0.004byClusterbyFreqWith1000GenomeData0.0076 YesmissenseGArg [R]2717
contig referenceALys [K]2717
421427092240 rs910865865 N.D. synonymousALeu [L]3716
contig referenceGLeu [L]3716
421427132236 rs775361469 0.000 missenseCAla [A]2715
contig referenceTVal [V]2715
421439882224 rs1021952220 N.D. missenseAAsp [D]2711
contig referenceCAla [A]2711
421439892223 rs763414297 0.000 missenseAThr [T]1711
contig referenceGAla [A]1711
421439942218 rs766788598 0.000 missenseGTrp [W]2709
contig referenceTLeu [L]2709
421439972215 rs367600952 0.000byCluster YesmissenseATyr [Y]2708
contig referenceCSer [S]2708
421440002212 rs576355757 0.000byFreqWith1000GenomeData0.0002 missenseGCys [C]2707
contig referenceATyr [Y]2707
421440022210 rs768035451 0.000byFreq missenseGGlu [E]3706
contig referenceCAsp [D]3706
421440052207 rs542153561 0.000With1000GenomeData0.0002 synonymousCPhe [F]3705
contig referenceTPhe [F]3705
421440162196 rs756173146 0.000byFreq missenseTPhe [F]1702
contig referenceAIle [I]1702
421440192193 rs764335284 0.000 missenseGVal [V]1701
contig referenceCLeu [L]1701
421440202192 rs574330551 N.D.byCluster missenseAGlu [E]3700
contig referenceCAsp [D]3700
421440262186 rs753997694 0.000 synonymousGAla [A]3698
contig referenceAAla [A]3698
421440272185 rs758203357 0.000byFreq missenseTVal [V]2698
contig referenceCAla [A]2698
421440292183 rs779883485 0.000 missenseCSer [S]3697
contig referenceAArg [R]3697
421440302182 rs149896413 0.000 YesmissenseALys [K]2697
contig referenceGArg [R]2697
421440312181 rs751367562 0.000 missenseGGly [G]1697
contig referenceAArg [R]1697
421440352177 rs754914519 0.000 synonymousCPro [P]3695
contig referenceTPro [P]3695
421440372175 rs145946616 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTSer [S]1695
contig referenceCPro [P]1695
421440392173 rs139788907 0.000byClusterbyFreq YesmissenseCPro [P]2694
contig referenceTLeu [L]2694
421440402172 rs769361292 0.000byFreq missenseAMet [M]1694
contig referenceCLeu [L]1694
421440432169 rs777581946 0.000 synonymousTLeu [L]1693
contig referenceCLeu [L]1693
421440492163 rs749001605 0.000byFreq synonymousTLeu [L]1691
contig referenceCLeu [L]1691
421440522160 rs1009874984 N.D. missenseTSer [S]1690
contig referenceCPro [P]1690
421440532159 rs954413270 N.D. synonymousTPhe [F]3689
contig referenceCPhe [F]3689
421440552157 rs372373518 0.000byCluster YesmissenseAIle [I]1689
contig referenceTPhe [F]1689
421440562156 rs143496064 0.000byClusterbyFreq YessynonymousAPro [P]3688
contig referenceGPro [P]3688
421440572155 rs527839092 0.000byFreqWith1000GenomeData0.0002 missenseTLeu [L]2688
contig referenceCPro [P]2688
421440602152 rs772482612 0.000 missenseATyr [Y]2687
contig referenceCSer [S]2687
421440612151 rs776028372 0.000byFreq missenseAThr [T]1687
contig referenceTSer [S]1687
421440622150 rs760679690 0.000byFreq synonymousTAsn [N]3686
contig referenceCAsn [N]3686
421440672145 rs764103829 0.000byFreq missenseGVal [V]1685
contig referenceAIle [I]1685
421440692143 rs753902761 0.000 missenseGGly [G]2684
contig referenceCAla [A]2684
421440702142 rs762091206 0.000byFreq missenseCPro [P]1684
contig referenceGAla [A]1684
421440752137 rs765415876 0.000 missenseAAsp [D]2682
contig referenceGGly [G]2682
421440792133 rs751331576 0.000 missenseAArg [R]1681
contig referenceGGly [G]1681
421440802132 rs193091769 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsp [D]3680
contig referenceCAsp [D]3680
421440832129 rs780995247 0.000 synonymousAVal [V]3679
contig referenceGVal [V]3679
421440892123 rs752622745 0.000byFreq synonymousTTyr [Y]3677
contig referenceCTyr [Y]3677
421440922120 rs756103310 0.000 synonymousALeu [L]3676
contig referenceGLeu [L]3676
421441002112 rs777488318 0.000 missenseAAsn [N]1674
contig referenceGAsp [D]1674
421441012111 rs866580207 N.D. synonymousAArg [R]3673
contig referenceGArg [R]3673
421441022110 rs748772682 0.000byFreq missenseAGln [Q]2673
contig referenceGArg [R]2673
421441032109 rs564398767 0.000byFreqWith1000GenomeData0.0004 missenseTTrp [W]1673
contig referenceCArg [R]1673
421441052107 rs376799222 0.000byClusterbyFreq YesmissenseALys [K]2672
contig referenceTMet [M]2672
421441062106 rs369850151 0.000byClusterbyFreq YesmissenseTLeu [L]1672
contig referenceAMet [M]1672
421441062105 rs758402922 0.000 frame shiftCHis [H]3672
contig reference-Met [M]3672
421441072105 rs200735729 0.000byClusterbyFreqWith1000GenomeData0.0018 YessynonymousGPro [P]3671
contig referenceCPro [P]3671
421441072105 rs750297279 0.000 frame shift-Cys [C]3672
contig referenceCMet [M]3672
421441112101 rs550236490 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]2670
missenseTIle [I]2670
contig referenceCThr [T]2670
421441132099 rs769148842 0.000byFreq synonymousALeu [L]3669
contig referenceCLeu [L]3669
421441152097 rs146754011 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTPhe [F]1669
contig referenceCLeu [L]1669
421441202092 rs761861606 0.000 missenseGSer [S]2667
contig referenceAAsn [N]2667
421441212091 rs199876237 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseCHis [H]1667
missenseGAsp [D]1667
contig referenceAAsn [N]1667
421441232089 rs759263037 0.000 missenseGArg [R]2666
contig referenceCPro [P]2666
421441282084 rs148889218 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGAla [A]3664
contig referenceCAla [A]3664
421441302082 rs375162581 0.000byClusterbyFreq YesmissenseAThr [T]1664
contig referenceGAla [A]1664
421441312081 rs369240112 0.000byCluster YessynonymousTAsp [D]3663
contig referenceCAsp [D]3663
421441342078 rs201764734 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]3662
contig referenceGPro [P]3662
421441352077 rs533703193 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2662
contig referenceCPro [P]2662
421441392073 rs756790132 0.000 missenseAAsn [N]1661
contig referenceCHis [H]1661
421441412071 rs778438527 0.000byFreq missenseTIle [I]2660
contig referenceCThr [T]2660
421444572060 rs779551732 0.000 synonymousAAla [A]3656
contig referenceCAla [A]3656
421444622055 rs747399244 0.000byFreq missenseAMet [M]1655
contig referenceGVal [V]1655
421444632054 rs755266833 0.000byFreq synonymousTPhe [F]3654
contig referenceCPhe [F]3654
421444942023 rs781672692 0.000 missenseCSer [S]2644
contig referenceTLeu [L]2644
421444962021 rs748711942 0.000byFreq missenseGTrp [W]3643
contig referenceCCys [C]3643
421444972020 rs770196874 0.000 missenseTPhe [F]2643
contig referenceGCys [C]2643
421445022015 rs773378399 0.000 synonymousGGly [G]3641
contig referenceTGly [G]3641
421445062011 rs201073517 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2640
contig referenceGArg [R]2640
421445072010 rs370709181 0.000byClusterbyFreq YesmissenseTTrp [W]1640
contig referenceCArg [R]1640
421445221995 rs142604776 0.000byClusterbyFreq YesmissenseGGly [G]1635
contig referenceASer [S]1635
421445281989 rs375152317 0.000byClusterbyFreq YesmissenseAThr [T]1633
contig referenceGAla [A]1633
421445291988 rs529264548 0.000byFreqWith1000GenomeData0.0008 synonymousTSer [S]3632
contig referenceCSer [S]3632
421445391978 rs151072178 0.006byClusterbyFreqWith1000GenomeData0.0008 YesmissenseAHis [H]2629
contig referenceGArg [R]2629
421445401977 rs765058508 0.000byFreq missenseGGly [G]1629
missenseTCys [C]1629
contig referenceCArg [R]1629
421445421975 rs140998313 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTPhe [F]2628
contig referenceCSer [S]2628
421445511966 rs762324472 0.000 missenseCThr [T]2625
contig referenceTIle [I]2625
421445521965 rs766021908 0.000 missenseCLeu [L]1625
contig referenceAIle [I]1625
421445551962 rs751152468 0.000byFreq missenseAAsn [N]1624
contig referenceGAsp [D]1624
421445601957 rs371896950 0.000byCluster YesmissenseCAla [A]2622
contig referenceTVal [V]2622
421445641953 rs150211578 0.000byClusterbyFreq YesmissenseCPro [P]1621
contig referenceGAla [A]1621
421445651952 rs370562957 N.D. YesmissenseCHis [H]3620
contig referenceGGln [Q]3620
421445681949 rs781598817 0.000 synonymousASer [S]3619
contig referenceCSer [S]3619
421445751942 rs200217372 0.000byClusterbyFreq YesmissenseTLeu [L]2617
contig referenceCPro [P]2617
421445761941 rs756692917 0.000byClusterbyFreq missenseTSer [S]1617
contig referenceCPro [P]1617
421445771940 rs201766447 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGly [G]3616
contig referenceGGly [G]3616
421445781939 rs866711011 N.D. missenseAGlu [E]2616
contig referenceGGly [G]2616
421445871930 rs749414498 0.000 missenseAAsn [N]2613
contig referenceCThr [T]2613
421445921925 rs770850908 0.000 synonymousGLeu [L]3611
contig referenceCLeu [L]3611
421445951922 rs779292135 0.000byFreq missenseTSer [S]3610
contig referenceGArg [R]3610
421445981919 rs147877127 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAThr [T]3609
contig referenceGThr [T]3609
421445991918 rs141500061 0.000byClusterbyFreq YesmissenseTMet [M]2609
contig referenceCThr [T]2609
421446021915 rs147124089 0.000byClusterbyFreq YesmissenseAGln [Q]2608
contig referenceGArg [R]2608
421446071910 rs769796365 0.000 synonymousAArg [R]3606
contig referenceGArg [R]3606
421446101907 rs138536563 0.000byClusterbyFreq YessynonymousASer [S]3605
contig referenceGSer [S]3605
421446111906 rs149624289 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]2605
contig referenceCSer [S]2605
421446191898 rs148007024 0.003byClusterbyFreqWith1000GenomeData0.0048 YesmissenseAGln [Q]3602
contig referenceCHis [H]3602
421446221895 rs148344164 0.000 YessynonymousTLeu [L]3601
contig referenceGLeu [L]3601
421446231894 rs751060780 0.000 missenseCPro [P]2601
contig referenceTLeu [L]2601
421446251892 rs549422109 0.000byFreqWith1000GenomeData0.0002 missenseCHis [H]3600
contig referenceGGln [Q]3600
421446291888 rs767134598 0.000 missenseTLeu [L]2599
contig referenceCPro [P]2599
421446301887 rs753127554 0.000byFreq missenseTSer [S]1599
contig referenceCPro [P]1599
421446311886 rs763877386 0.000byFreq missenseCAsn [N]3598
contig referenceGLys [K]3598
421446351882 rs778346819 0.000byFreq missenseGArg [R]2597
contig referenceAGln [Q]2597
421446421875 rs201236009 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAAsn [N]1595
contig referenceGAsp [D]1595
421446431874 rs757827731 0.000byClusterbyFreq synonymousTAsp [D]3594
contig referenceCAsp [D]3594
421455751872 rs745385494 0.000 missenseAAsn [N]1594
contig referenceGAsp [D]1594
421455781869 rs771510560 0.000 missenseGAla [A]1593
contig referenceAThr [T]1593
421455821865 rs553382495 0.000byFreqWith1000GenomeData0.0004 synonymousCAsn [N]3591
contig referenceTAsn [N]3591
421455831864 rs760313700 0.000 missenseGSer [S]2591
contig referenceAAsn [N]2591
421455881859 rs763772274 0.000 missenseGArg [R]3589
contig referenceTSer [S]3589
421455901857 rs551737833 N.D.byCluster missenseTCys [C]1589
contig referenceASer [S]1589
421455931854 rs776909276 0.000 missenseCArg [R]1588
contig referenceGGly [G]1588
421456151832 rs761593240 0.000 synonymousTLeu [L]3580
contig referenceCLeu [L]3580
421456161831 rs867993277 N.D. missenseCPro [P]2580
contig referenceTLeu [L]2580
421456191828 rs573176161 0.000byFreqWith1000GenomeData0.0002 missenseAAsp [D]2579
missenseCAla [A]2579
contig referenceGGly [G]2579
421456201827 rs758958455 0.000 missenseTCys [C]1579
contig referenceGGly [G]1579
421456211826 rs115928111 0.001byClusterbyFreqWith1000GenomeData0.0024 YessynonymousASer [S]3578
contig referenceGSer [S]3578
421456221825 rs146007650 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTLeu [L]2578
contig referenceCSer [S]2578
421456251822 rs755199813 0.000 missenseTVal [V]2577
contig referenceGGly [G]2577
421456261821 rs781426338 0.000byFreq missenseASer [S]1577
contig referenceGGly [G]1577
421456271820 rs145957347 0.000byClusterbyFreqWith1000GenomeData0.0018 YessynonymousTAla [A]3576
contig referenceCAla [A]3576
421456291818 rs756978853 0.000byFreq missenseAThr [T]1576
contig referenceGAla [A]1576
421456291815 rs778020101 0.000 frame shift-Pro [P]1575
contig referenceACCGThr [T]1575
421456301817 rs139834728 0.001byClusterbyFreqWith1000GenomeData0.0014 YessynonymousTThr [T]3575
contig referenceCThr [T]3575
421456381809 rs369238792 0.000byCluster YesmissenseGVal [V]1573
contig referenceCLeu [L]1573
421456421805 rs894465465 N.D. missenseGMet [M]3571
contig referenceCIle [I]3571
421456571790 rs369040665 0.000byCluster YessynonymousAThr [T]3566
synonymousTThr [T]3566
contig referenceCThr [T]3566
421456591788 rs774903913 0.000 missenseGAla [A]1566
contig referenceAThr [T]1566
421456601787 rs141527737 0.000byClusterbyFreq YessynonymousTAla [A]3565
contig referenceCAla [A]3565
421456671780 rs768220011 0.000 missenseTVal [V]2563
contig referenceCAla [A]2563
421456681779 rs776310395 0.000byFreq missenseAThr [T]1563
contig referenceGAla [A]1563
421456691778 rs563380877 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]3562
contig referenceCSer [S]3562
421456781769 rs770228280 0.000 missenseAIle [I]3559
contig referenceGMet [M]3559
421457701760 rs892028366 N.D. synonymousALeu [L]3556
contig referenceGLeu [L]3556
421457721758 rs373834504 0.000byCluster YessynonymousTLeu [L]1556
contig referenceCLeu [L]1556
421457731757 rs1018920916 N.D. synonymousTTyr [Y]3555
contig referenceCTyr [Y]3555
421457771753 rs148529696 0.004byClusterbyFreqWith1000GenomeData0.0002 YesmissenseATyr [Y]2554
contig referenceGCys [C]2554
421457791751 rs142852720 0.005byClusterbyFreqWith1000GenomeData0.0082 YesmissenseGMet [M]3553
contig referenceCIle [I]3553
421457821748 rs534259776 N.D. synonymousCArg [R]3552
contig referenceGArg [R]3552
421457831747 rs149948316 0.000byClusterbyFreq YesmissenseAGln [Q]2552
contig referenceGArg [R]2552
421457841746 rs531270542 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]1552
contig referenceCArg [R]1552
421457901740 rs764278460 0.000 missenseCGln [Q]1550
contig referenceGGlu [E]1550
421457921738 rs151068838 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2549
contig referenceCPro [P]2549
421457931737 rs371058852 0.000byCluster YesmissenseAThr [T]1549
missenseTSer [S]1549
contig referenceCPro [P]1549
421457971733 rs751457985 0.000 synonymousGLeu [L]3547
contig referenceCLeu [L]3547
421458021728 rs148651723 0.000byClusterbyFreq YesnonsenseT1546
contig referenceCGln [Q]1546
421458031727 rs780886226 0.000 synonymousALeu [L]3545
contig referenceGLeu [L]3545
421458101720 rs376732944 0.000byClusterbyFreq YesmissenseCPro [P]2543
contig referenceGArg [R]2543
421458111719 rs769588498 0.000byFreq nonsenseT1543
contig referenceCArg [R]1543
421458221708 rs777523055 0.000 missenseCPro [P]2539
contig referenceTLeu [L]2539
421458231707 rs749617751 0.000 missenseGVal [V]1539
contig referenceCLeu [L]1539
421458321698 rs199731908 0.000byClusterbyFreq YesmissenseASer [S]1536
contig referenceGGly [G]1536
421458331697 rs201800403 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTPhe [F]3535
contig referenceCPhe [F]3535
421458381692 rs746452942 0.000 missenseTPhe [F]1534
contig referenceCLeu [L]1534
421458411689 rs368147155 0.000byClusterbyFreq YesmissenseALys [K]1533
contig referenceGGlu [E]1533
421458421688 rs201066807 0.001byClusterbyFreqWith1000GenomeData0.0010 YessynonymousGThr [T]3532
synonymousTThr [T]3532
contig referenceCThr [T]3532
421458491681 rs764331545 0.000byFreq missenseCAla [A]2530
contig referenceTVal [V]2530
421458511679 rs200627483 0.000byCluster YessynonymousCTyr [Y]3529
contig referenceTTyr [Y]3529
421458521678 rs925004719 N.D. missenseGCys [C]2529
contig referenceATyr [Y]2529
421458571673 rs751427672 0.000 synonymousAGly [G]3527
contig referenceGGly [G]3527
421458591671 rs766258609 0.000 missenseAArg [R]1527
contig referenceGGly [G]1527
421458601670 rs147900336 0.000byClusterbyFreq YessynonymousTTyr [Y]3526
contig referenceCTyr [Y]3526
421458701660 rs994737784 N.D. missenseGCys [C]2523
contig referenceTPhe [F]2523
421458721658 rs754990128 0.000 synonymousAGly [G]3522
contig referenceCGly [G]3522
421458761654 rs767509281 0.000 missenseCAla [A]2521
contig referenceTVal [V]2521
421458781652 rs752282681 0.000 synonymousAGlu [E]3520
contig referenceGGlu [E]3520
421458801650 rs865999646 N.D. missenseALys [K]1520
contig referenceGGlu [E]1520
421458811649 rs141590749 0.000 YessynonymousCTyr [Y]3519
contig referenceTTyr [Y]3519
421458821648 rs566986900 0.000byFreqWith1000GenomeData0.0006 missenseGCys [C]2519
contig referenceATyr [Y]2519
421458851645 rs777581987 0.000 missenseTLeu [L]2518
contig referenceCPro [P]2518
421458871643 rs749026176 0.000 synonymousAThr [T]3517
contig referenceGThr [T]3517
421458881642 rs201434411 0.000byClusterbyFreq YesmissenseTMet [M]2517
contig referenceCThr [T]2517
421458901640 rs1018989839 N.D. synonymousTPhe [F]3516
contig referenceCPhe [F]3516
421458931637 rs967164728 N.D. missenseCAsp [D]3515
contig referenceGGlu [E]3515
421458951635 rs200522198 0.001byClusterbyFreqWith1000GenomeData0.0014 YesmissenseALys [K]1515
contig referenceGGlu [E]1515
421458961634 rs139667397 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTCys [C]3514
contig referenceCCys [C]3514
421458981632 rs1049080382 N.D. missenseCArg [R]1514
contig referenceTCys [C]1514
421461271626 rs371560229 0.000byCluster YesmissenseALys [K]1512
contig referenceGGlu [E]1512
421461291624 rs769149240 0.000byFreq missenseTVal [V]2511
contig referenceCAla [A]2511
421461361617 rs765605608 N.D.byCluster frame shift-Ile [I]1509
contig referenceGAsp [D]1509
421461391614 rs373729167 0.000byCluster YesmissenseALys [K]1508
contig referenceGGlu [E]1508
421461441609 rs199839163 0.000byClusterbyFreqWith1000GenomeData YesmissenseAAsn [N]2506
contig referenceGSer [S]2506
421461461607 rs770080877 0.000byFreq missenseCPhe [F]3505
contig referenceGLeu [L]3505
421461501603 rs377552532 N.D.byCluster YesmissenseGSer [S]2504
contig referenceAAsn [N]2504
421461521601 rs773236741 0.000 synonymousAThr [T]3503
contig referenceCThr [T]3503
421461561597 rs144626679 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2502
contig referenceGArg [R]2502
421461571596 rs151028116 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTCys [C]1502
contig referenceCArg [R]1502
421461591594 rs141111046 0.000byClusterbyFreq YesmissenseCAla [A]2501
contig referenceTVal [V]2501
421461601593 rs767391879 N.D.byCluster missenseAIle [I]1501
contig referenceGVal [V]1501
421461611592 rs377757066 0.000byClusterbyFreq YessynonymousTAsn [N]3500
contig referenceCAsn [N]3500
421461621591 rs956393982 N.D. missenseTIle [I]2500
contig referenceAAsn [N]2500
421461671586 rs763917404 0.000byFreq synonymousCSer [S]3498
contig referenceTSer [S]3498
421461751578 rs369884656 0.000byClusterbyFreq YesmissenseCHis [H]1496
contig referenceTTyr [Y]1496
421461801573 rs761188405 0.000 missenseTLeu [L]2494
contig referenceCPro [P]2494
421461821571 rs80108792 0.007byClusterbyFreqWith1000GenomeData0.0138 YessynonymousTTyr [Y]3493
contig referenceCTyr [Y]3493
421461841569 rs750024198 0.000byFreq missenseCHis [H]1493
contig referenceTTyr [Y]1493
421461951558 rs769635311 0.000byFreq missenseCAla [A]2489
missenseTVal [V]2489
contig referenceGGly [G]2489
421462011552 rs780466564 0.000byFreq missenseAHis [H]2487
contig referenceGArg [R]2487
421462021551 rs201424548 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTCys [C]1487
contig referenceCArg [R]1487
421462061547 rs138898478 0.000byClusterbyFreq YessynonymousAAla [A]3485
contig referenceGAla [A]3485
421462071546 rs149401636 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAGlu [E]2485
missenseTVal [V]2485
contig referenceCAla [A]2485
421462131540 rs769700694 0.000 missenseGArg [R]2483
contig referenceAGln [Q]2483
421462201530 rs746485812 0.000 frame shift-Thr [T]1480
contig referenceTCTGSer [S]1480
421462271526 rs777895167 0.000 synonymousALys [K]3478
contig referenceGLys [K]3478
421462281525 rs866097616 N.D. missenseCThr [T]2478
contig referenceALys [K]2478
421462311522 rs749586894 0.000 missenseTVal [V]2477
contig referenceCAla [A]2477
421462341519 rs771246414 0.000byCluster missenseTLeu [L]2476
contig referenceCPro [P]2476
421462391512 rs768056311 0.000 -1474
421462391514 rs775473359 0.000byFreq synonymousAGlu [E]3474
contig referenceGGlu [E]3474
421471241511 rs769743607 0.000byFreq synonymousAGlu [E]3473
contig referenceGGlu [E]3473
421471331502 rs370780639 0.000byCluster YessynonymousALeu [L]3470
contig referenceGLeu [L]3470
421471371498 rs141517669 0.000byClusterWith1000GenomeData0.0002 YesmissenseCPro [P]2469
contig referenceTLeu [L]2469
421471411494 rs762406040 0.000byFreq missenseAAsn [N]1468
contig referenceTTyr [Y]1468
421471421493 rs773932991 0.000byFreq synonymousAGlu [E]3467
contig referenceGGlu [E]3467
421471491486 rs759209794 0.000 missenseCPro [P]2465
contig referenceTLeu [L]2465
421471511484 rs144722412 0.000byClusterbyFreq YessynonymousTLeu [L]3464
contig referenceCLeu [L]3464
421471551480 rs375956650 0.000byCluster YesmissenseTVal [V]2463
contig referenceGGly [G]2463
421471611474 rs1048564594 N.D. missenseAHis [H]2461
contig referenceTLeu [L]2461
421471621473 rs906755370 N.D. missenseAIle [I]1461
missenseTPhe [F]1461
contig referenceCLeu [L]1461
421471631472 rs756627646 0.000 synonymousTAsp [D]3460
contig referenceCAsp [D]3460
421471651470 rs764646519 0.000 missenseAAsn [N]1460
contig referenceGAsp [D]1460
421471661469 rs199624641 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTIle [I]3459
contig referenceCIle [I]3459
421471691466 rs757340672 0.000 synonymousTLeu [L]3458
contig referenceCLeu [L]3458
421471711464 rs138573512 0.003byClusterbyFreqWith1000GenomeData0.0014 YesmissenseTPhe [F]1458
contig referenceCLeu [L]1458
421471721463 rs556110982 0.000byClusterbyFreq synonymousTSer [S]3457
contig referenceCSer [S]3457
421471771458 rs773748065 0.000byFreq missenseAMet [M]1456
missenseTLeu [L]1456
contig referenceGVal [V]1456
421471781457 rs4923929 0.492byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.4097 YesmissenseAArg [R]3455
synonymousTSer [S]3455
contig referenceCSer [S]3455
421471831452 rs769645249 0.000byFreq missenseTTyr [Y]1454
contig referenceCHis [H]1454
421471891446 rs773063728 0.000 missenseGGly [G]1452
contig referenceASer [S]1452
421471911444 rs748808087 0.000byFreq missenseAHis [H]2451
contig referenceGArg [R]2451
421471921443 rs770482481 0.000byFreq missenseTCys [C]1451
contig referenceCArg [R]1451
421471931442 rs538570911 N.D. synonymousAGlu [E]3450
contig referenceGGlu [E]3450
421471971438 rs146187157 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2449
contig referenceGArg [R]2449
421471981437 rs148395091 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTTrp [W]1449
contig referenceCArg [R]1449
421471991436 rs767176474 0.000byFreq synonymousAVal [V]3448
synonymousGVal [V]3448
contig referenceCVal [V]3448
421472051430 rs373871457 0.000byClusterbyFreq YessynonymousALeu [L]3446
contig referenceGLeu [L]3446
421472051429 rs762887261 0.000byFreq frame shiftTGly [G]2448
contig reference-Val [V]2448
421472061429 rs932544216 N.D. missenseGArg [R]2446
contig referenceTLeu [L]2446
421472191416 rs368604960 N.D.byCluster YesmissenseCHis [H]1442
contig referenceTTyr [Y]1442
421472231412 rs764703647 0.000byFreq synonymousAGln [Q]3440
contig referenceGGln [Q]3440
421472251410 rs754340818 0.000byFreq nonsenseT1440
contig referenceCGln [Q]1440
421472301405 rs150577714 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2438
contig referenceGArg [R]2438
421472311404 rs760514912 0.000byFreq missenseTTrp [W]1438
contig referenceCArg [R]1438
421472321403 rs1010970045 N.D. synonymousAGlu [E]3437
contig referenceGGlu [E]3437
421472351400 rs145292197 0.003byClusterbyFreqWith1000GenomeData0.0010 YessynonymousAThr [T]3436
synonymousTThr [T]3436
contig referenceGThr [T]3436
421472431392 rs144403970 0.000byClusterbyFreq YessynonymousCLeu [L]1434
contig referenceTLeu [L]1434
421472461389 rs111633028 0.126byClusterbyFreqWith1000GenomeData0.0519 YesmissenseAThr [T]1433
contig referenceGAla [A]1433
421472491386 rs960197285 N.D. missenseAArg [R]1432
contig referenceGGly [G]1432
421472571378 rs777529275 0.000byFreq missenseAAsn [N]2429
contig referenceGSer [S]2429
421472661369 rs749287510 0.000 missenseCAla [A]2426
contig referenceTVal [V]2426
421472671368 rs770823488 0.000 missenseAIle [I]1426
contig referenceGVal [V]1426
421472681367 rs778442022 0.000 synonymousTHis [H]3425
contig referenceCHis [H]3425
421472741361 rs367756743 0.000byCluster YessynonymousAGln [Q]3423
contig referenceGGln [Q]3423
421472781357 rs771653817 0.000 missenseTVal [V]2422
contig referenceCAla [A]2422
421472811354 rs200021326 0.000byClusterbyFreq YesmissenseAHis [H]2421
contig referenceGArg [R]2421
421472821353 rs573724327 0.000byCluster missenseASer [S]1421
contig referenceCArg [R]1421
421472871348 rs190200772 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGSer [S]2419
contig referenceTIle [I]2419
421472881347 rs777132470 0.000 missenseTPhe [F]1419
contig referenceAIle [I]1419
421472891346 rs1036678929 N.D. synonymousTPro [P]3418
contig referenceCPro [P]3418
421472921343 rs762453833 0.000 synonymousTGly [G]3417
contig referenceCGly [G]3417
421472971338 rs139998982 0.000byClusterbyFreq YesnonsenseT1416
missenseGGlu [E]1416
contig referenceCGln [Q]1416
421473001335 rs750495970 0.000 synonymousCLeu [L]1415
contig referenceTLeu [L]1415
421473051330 rs145422765 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGlu [E]2413
contig referenceTVal [V]2413
421473061329 rs766520010 0.000 missenseAMet [M]1413
contig referenceGVal [V]1413
421473101325 rs563166913 N.D.byCluster synonymousGSer [S]3411
contig referenceCSer [S]3411
421473141321 rs751862750 0.000 missenseCSer [S]2410
contig referenceGTrp [W]2410
421473171318 rs755185141 0.000byFreq missenseGGly [G]2409
contig referenceCAla [A]2409
421473181317 rs777582760 0.000 missenseAThr [T]1409
contig referenceGAla [A]1409
421473201315 rs753605649 0.000 missenseTLeu [L]2408
contig referenceCPro [P]2408
421473261309 rs201453358 0.001byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTMet [M]2406
contig referenceGArg [R]2406
421473341301 rs201687925 0.000byClusterWith1000GenomeData0.0002 YessynonymousCThr [T]3403
contig referenceAThr [T]3403
421473351300 rs745375667 0.000byFreq missenseALys [K]2403
missenseTIle [I]2403
contig referenceCThr [T]2403
421473381297 rs779418608 0.000byFreq missenseGCys [C]2402
contig referenceCSer [S]2402
421473421293 rs77677751 0.001byClusterbyFreqWith1000GenomeData0.0034 YesmissenseCLeu [L]1401
contig referenceAIle [I]1401
421473461289 rs768394948 0.000 nonsenseA3399
contig referenceGTrp [W]3399
421476281286 rs771318726 0.000byFreq synonymousGThr [T]3398
contig referenceCThr [T]3398
421476341280 rs267604203 N.D.byCluster YessynonymousAGly [G]3396
contig referenceGGly [G]3396
421476361278 rs780753169 0.000 missenseAArg [R]1396
missenseCArg [R]1396
contig referenceGGly [G]1396
421476401274 rs759572278 0.000byFreq synonymousGVal [V]3394
contig referenceCVal [V]3394
421476561258 rs954176160 N.D. missenseTIle [I]2389
contig referenceCThr [T]2389
421476661248 rs767731432 0.000 missenseTTyr [Y]1386
contig referenceGAsp [D]1386
421476711243 rs775632991 0.000 missenseGArg [R]2384
contig referenceTLeu [L]2384
421476721242 rs149128134 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTPhe [F]1384
contig referenceCLeu [L]1384
421476751239 rs765148778 0.000byFreq missenseASer [S]1383
contig referenceGGly [G]1383
421476761238 rs79092213 0.021byClusterbyFreqWith1000GenomeData0.0122 YessynonymousTLeu [L]3382
contig referenceCLeu [L]3382
421476811233 rs151325640 0.000byCluster YesmissenseCGln [Q]1381
contig referenceGGlu [E]1381
421476871227 rs972622985 N.D. missenseGVal [V]1379
contig referenceTLeu [L]1379
421476961218 rs368251693 0.000 YesmissenseAMet [M]1376
contig referenceCLeu [L]1376
421477011213 rs140679522 0.000byCluster YesmissenseCAla [A]2374
contig referenceGGly [G]2374
421477021212 rs200111531 0.000byClusterbyFreq YesmissenseASer [S]1374
contig referenceGGly [G]1374
421477031211 rs754475671 0.000byFreq nonsenseA3373
contig referenceCTyr [Y]3373
421477061208 rs747872651 0.000 synonymousALeu [L]3372
contig referenceGLeu [L]3372
421477141200 rs755688376 0.000byFreq missenseAThr [T]1370
contig referenceTSer [S]1370
421477181196 rs778246983 0.000 synonymousTAla [A]3368
contig referenceCAla [A]3368
421477191195 rs749564105 0.000 missenseTVal [V]2368
contig referenceCAla [A]2368
421477211192 rs139732075 0.000byClusterWith1000GenomeData Yesframe shiftGSer [S]2368
contig reference-Ala [A]2368
421477221192 rs771499054 0.000byFreq missenseAGln [Q]2367
contig referenceGArg [R]2367
421477231191 rs201010833 0.002byClusterbyFreq YesnonsenseT1367
missenseGGly [G]1367
contig referenceCArg [R]1367
421477251189 rs775543397 0.000byFreq missenseTIle [I]2366
contig referenceCThr [T]2366
421477261188 rs760999437 0.001byFreq missenseCPro [P]1366
contig referenceAThr [T]1366
421477281186 rs267604204 N.D.byCluster YesmissenseTVal [V]2365
contig referenceGGly [G]2365
421477301184 rs768739496 0.000byFreq synonymousGGly [G]3364
contig referenceTGly [G]3364
421477311183 rs773083892 0.000 missenseCAla [A]2364
contig referenceGGly [G]2364
421477321182 rs762618557 0.000 missenseCArg [R]1364
contig referenceGGly [G]1364
421477351179 rs766348598 0.000byFreq missenseAArg [R]1363
missenseTTrp [W]1363
contig referenceGGly [G]1363
421477361178 rs751489236 0.000byClusterbyFreq synonymousGSer [S]3362
contig referenceCSer [S]3362
421477391175 rs759538053 0.000byFreq synonymousGGly [G]3361
contig referenceTGly [G]3361
421477401174 rs927013847 N.D. missenseAAsp [D]2361
contig referenceGGly [G]2361
421477411173 rs531994085 0.000 missenseTCys [C]1361
contig referenceGGly [G]1361
421477421172 rs752229477 0.000byFreq missenseTPhe [F]3360
contig referenceGLeu [L]3360
421477441170 rs755810592 0.000byFreq missenseGVal [V]1360
synonymousCLeu [L]1360
contig referenceTLeu [L]1360
421477451169 rs1055668833 N.D. synonymousAVal [V]3359
contig referenceGVal [V]3359
421477461168 rs79576717 0.048byClusterbyFreq YesmissenseGGly [G]2359
contig referenceTVal [V]2359
421477561158 rs757506722 0.000 missenseAIle [I]1356
contig referenceGVal [V]1356
421477591155 rs546219139 N.D. missenseGAla [A]1355
contig referenceCPro [P]1355
421477601154 rs187520868 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTVal [V]3354
contig referenceGVal [V]3354
421497181146 rs747119962 0.000 missenseASer [S]1352
contig referenceGGly [G]1352
421497251139 rs768565403 0.000 synonymousALeu [L]3349
contig referenceGLeu [L]3349
421497351129 rs781323955 0.000 missenseAAsn [N]2346
contig referenceGSer [S]2346
421497371127 rs778232861 N.D. synonymousALeu [L]3345
contig referenceGLeu [L]3345
421497421122 rs1012207292 N.D. missenseAArg [R]1344
contig referenceGGly [G]1344
421497591105 rs748354916 0.000 missenseTVal [V]2338
contig referenceCAla [A]2338
421497601104 rs1024853317 N.D. missenseTSer [S]1338
contig referenceGAla [A]1338
421497621102 rs906425533 N.D. missenseGArg [R]2337
contig referenceALys [K]2337
421497691095 rs1004518679 N.D. missenseAMet [M]1335
contig referenceGVal [V]1335
421497701094 rs571874061 0.000With1000GenomeData0.0002 synonymousTVal [V]3334
contig referenceCVal [V]3334
421497721092 rs774307537 0.000 missenseAIle [I]1334
contig referenceGVal [V]1334
421497761088 rs199854900 0.000byClusterbyFreq YessynonymousALys [K]3332
contig referenceGLys [K]3332
421498051059 rs140300563 0.001byClusterbyFreqWith1000GenomeData0.0016 YesmissenseAArg [R]1323
contig referenceGGly [G]1323
421498061058 rs150784108 0.002byClusterbyFreqWith1000GenomeData0.0032 YessynonymousTAsp [D]3322
contig referenceCAsp [D]3322
421498071057 rs1029195724 N.D. missenseGGly [G]2322
contig referenceAAsp [D]2322
421498091055 rs137914268 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCSer [S]3321
contig referenceTSer [S]3321
421498101054 rs776177133 0.000byFreq missenseGCys [C]2321
missenseTPhe [F]2321
contig referenceCSer [S]2321
421498121051 rs779147855 0.000 frame shiftTLeu [L]2321
contig reference-Ser [S]2321
421498221042 rs149454729 0.000byClusterbyFreq YesmissenseAAsp [D]2317
contig referenceGGly [G]2317
421498281036 rs750820840 0.000byFreq missenseAHis [H]2315
contig referenceGArg [R]2315
421498291035 rs144191503 0.000byClusterbyFreq YesmissenseTCys [C]1315
contig referenceCArg [R]1315
421498381026 rs148266549 0.000byClusterbyFreq YessynonymousTLeu [L]1312
contig referenceCLeu [L]1312
421498391025 rs752068331 0.000 synonymousTAsp [D]3311
contig referenceCAsp [D]3311
421498401024 rs755474905 0.000byFreq missenseGGly [G]2311
contig referenceAAsp [D]2311
421498441020 rs781175321 0.000 missenseAArg [R]1310
contig referenceGGly [G]1310
421498451019 rs142823029 0.000byClusterbyFreq YessynonymousTSer [S]3309
contig referenceCSer [S]3309
421498461018 rs376068077 0.000byClusterbyFreq YesmissenseGCys [C]2309
contig referenceCSer [S]2309
421501051003 rs780559548 0.000byFreq -2304
421501121007 rs781142517 0.000 synonymousAVal [V]3305
contig referenceGVal [V]3305
421501141005 rs747676069 0.000 missenseAMet [M]1305
contig referenceGVal [V]1305
42150128991 rs769339201 0.000 missenseTVal [V]2300
contig referenceCAla [A]2300
42150134985 rs991916110 N.D. missenseGGly [G]2298
contig referenceAGlu [E]2298
42150141978 rs867841353 N.D. missenseASer [S]1296
contig referenceGGly [G]1296
42150377973 rs769710297 0.000 missenseAGlu [E]2294
contig referenceGGly [G]2294
42150382968 rs960390279 N.D. synonymousGAla [A]3292
contig referenceCAla [A]3292
42150387963 rs749081889 0.000byFreq missenseAMet [M]1291
contig referenceGVal [V]1291
42150389961 rs1023361892 N.D. missenseTPhe [F]2290
contig referenceCSer [S]2290
42150393957 rs200239069 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]1289
contig referenceTCys [C]1289
42150395955 rs969142533 N.D. missenseGArg [R]2288
contig referenceAGln [Q]2288
42150399951 rs770523870 0.000 missenseALys [K]1287
contig referenceGGlu [E]1287
42150400950 rs774009137 0.000 synonymousAGlu [E]3286
contig referenceGGlu [E]3286
42150405940 rs747732015 0.000byFreq -2283
42150405945 rs759090981 0.000byClusterbyFreq nonsenseT1285
contig referenceCGln [Q]1285
42150405945 rs769546502 N.D. frame shift-Arg [R]1285
contig referenceCGln [Q]1285
42150409926 rs773025312 0.000byFreq frame shift-Ala [A]3279
contig reference(16bp)Ser [S]3279
42150413937 rs538612068 0.000With1000GenomeData0.0002 missenseTLeu [L]2282
contig referenceCPro [P]2282
42150414936 rs868290042 N.D. missenseTSer [S]1282
contig referenceCPro [P]1282
42150416934 rs936191155 N.D. missenseCPro [P]2281
contig referenceTLeu [L]2281
42150419931 rs775994256 0.000byFreq missenseGCys [C]2280
missenseTPhe [F]2280
contig referenceCSer [S]2280
42150426924 rs981485074 N.D. missenseGVal [V]1278
contig referenceCLeu [L]1278
42150433916 rs762798872 0.000 frame shiftGHis [H]2276
contig reference-Ile [I]2276
42150434916 rs147411324 0.000byClusterbyFreq missenseAAsp [D]2275
contig referenceGGly [G]2275
42150435915 rs753970329 0.000byFreq missenseASer [S]1275
contig referenceGGly [G]1275
42150438912 rs761911194 0.000 missenseAArg [R]1274
contig referenceGGly [G]1274
42150441909 rs765397828 0.000byFreq missenseALys [K]1273
contig referenceGGlu [E]1273
42150442908 rs577270926 N.D. synonymousTGly [G]3272
contig referenceCGly [G]3272
42150445905 rs139618263 0.000byCluster synonymousALeu [L]3271
contig referenceGLeu [L]3271
42150453897 rs750703160 0.000 missenseGGly [G]1269
contig referenceASer [S]1269
42150459891 rs758513767 0.000byFreq nonsenseT1267
missenseGGlu [E]1267
contig referenceCGln [Q]1267
42150464886 rs372857549 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGGly [G]2265
contig referenceAGlu [E]2265
42150474876 rs375936225 0.000byClusterbyFreq missenseAThr [T]1262
contig referenceGAla [A]1262
42150475875 rs777650187 0.000byFreq synonymousTSer [S]3261
contig referenceCSer [S]3261
42150478872 rs748773777 0.000 synonymousTPro [P]3260
contig referenceCPro [P]3260
42150481869 rs201189555 0.000byCluster synonymousAGly [G]3259
synonymousTGly [G]3259
contig referenceCGly [G]3259
42150482868 rs778256671 0.000 missenseTVal [V]2259
contig referenceGGly [G]2259
42150484866 rs745602455 0.000byFreq synonymousCSer [S]3258
contig referenceTSer [S]3258
42150486864 rs771610991 0.000byFreq missenseGGly [G]1258
contig referenceASer [S]1258
42150608863 rs757930258 0.000 synonymousAGln [Q]3257
contig referenceGGln [Q]3257
42150613858 rs779687849 N.D. missenseCLeu [L]1256
contig referenceGVal [V]1256
42150614857 rs759379710 0.000 frame shift-Cys [C]3256
contig referenceTVal [V]3256
42150617854 rs751293453 0.000 synonymousCAla [A]3254
contig referenceAAla [A]3254
42150618853 rs754670087 0.000