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dbSNP

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SNP linked to Gene (geneID:7051) 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_000359.2minus strandNP_000350.1reverseNT_026437.13GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_026437.13NM_000359.2NP_000350.1reverseminus strand553, 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
242493222569 rs199898319 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCGly [G]3815
contig referenceTGly [G]3815
242493262565 rs747705778 0.000byFreq missenseAGln [Q]2814
contig referenceGArg [R]2814
242493272564 rs755589419 0.000byFreq nonsenseT1814
contig referenceCArg [R]1814
242493282563 rs778402369 0.000byFreq synonymousCSer [S]3813
contig referenceTSer [S]3813
242493312560 rs749701019 0.000 synonymousGAla [A]3812
contig referenceAAla [A]3812
242493382553 rs771333451 0.000 missenseTLeu [L]2810
contig referenceCPro [P]2810
242493392552 rs774542068 0.000 missenseTSer [S]1810
contig referenceCPro [P]1810
242493442547 rs746118638 0.000byFreq missenseTIle [I]2808
contig referenceCThr [T]2808
242493572534 rs557395470 N.D. missenseGAsp [D]1804
contig referenceCHis [H]1804
242493622529 rs2228337 0.002byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0028 missenseTVal [V]2802
missenseTVal [V]2802
contig referenceAAsp [D]2802
contig referenceAAsp [D]2802
242493652526 rs775827063 0.000 missenseTVal [V]2801
contig referenceGGly [G]2801
242493692522 rs760908374 0.000 missenseAArg [R]1800
contig referenceGGly [G]1800
242493732518 rs201811993 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTAsp [D]3798
contig referenceCAsp [D]3798
242493872504 rs773210753 0.000 missenseASer [S]1794
contig referenceGGly [G]1794
242493902501 rs188646084 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]1793
contig referenceGGly [G]1793
242493932498 rs766226043 0.000byFreq missenseAAsn [N]1792
contig referenceGAsp [D]1792
242493962495 rs751304165 0.000 missenseTTrp [W]1791
contig referenceGGly [G]1791
242494012490 rs759302866 0.000 missenseTVal [V]2789
contig referenceCAla [A]2789
242494202471 rs767197839 0.000 nonsenseT1783
contig referenceCGln [Q]1783
242494242467 rs752333115 0.000byFreq synonymousTVal [V]3781
contig referenceCVal [V]3781
242494302461 rs755635993 0.000byFreq synonymousTHis [H]3779
contig referenceCHis [H]3779
242494322459 rs777082660 0.000 missenseTTyr [Y]1779
contig referenceCHis [H]1779
242494442447 rs865782879 N.D. missenseTPhe [F]1775
contig referenceCLeu [L]1775
242494482443 rs754401329 0.000 synonymousGPro [P]3773
contig referenceAPro [P]3773
242494512440 rs757658720 0.000 synonymousTSer [S]3772
contig referenceCSer [S]3772
242494762415 rs768048648 N.D. missenseAHis [H]2764
contig referenceGArg [R]2764
242494772414 rs201853046 0.002 YesmissenseTCys [C]1764
contig referenceCArg [R]1764
242494842407 rs779456770 0.000 synonymousCPro [P]3761
contig referenceAPro [P]3761
242494882403 rs746278667 0.000 missenseAGln [Q]2760
contig referenceGArg [R]2760
242494892402 rs398122904 0.000byCluster PathogenicnonsenseT1760
contig referenceCArg [R]1760
242494952396 rs780477427 0.000 missenseTSer [S]1758
contig referenceCPro [P]1758
242495022389 rs747167684 0.000 synonymousTSer [S]3755
contig referenceGSer [S]3755
242495032388 rs35926651 0.003byClusterbyFreqWith1000GenomeData0.0028 YesmissenseGTrp [W]2755
missenseTLeu [L]2755
contig referenceCSer [S]2755
242495082383 rs372243750 0.000byCluster YessynonymousTArg [R]3753
contig referenceCArg [R]3753
242495092382 rs202020907 0.001byClusterbyFreq YesmissenseAHis [H]2753
contig referenceGArg [R]2753
242495102381 rs770824119 0.000 missenseTCys [C]1753
contig referenceCArg [R]1753
242495122379 rs774241352 0.000 missenseGArg [R]2752
contig referenceTLeu [L]2752
242495162375 rs759392769 0.000 missenseCPro [P]1751
contig referenceAThr [T]1751
242495352356 rs201121939 0.003 YessynonymousCIle [I]3744
contig referenceTIle [I]3744
242495362355 rs767241210 0.000 missenseCThr [T]2744
contig referenceTIle [I]2744
242541532348 rs764787488 0.000byFreq missenseAArg [R]1742
contig referenceGGly [G]1742
242541542347 rs750973499 0.000 synonymousCVal [V]3741
contig referenceTVal [V]3741
242541552346 rs758936479 0.000byFreq missenseCAla [A]2741
contig referenceTVal [V]2741
242541562345 rs141864003 0.000byClusterbyFreq YesmissenseAIle [I]1741
contig referenceGVal [V]1741
242541572344 rs554951371 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsn [N]3740
contig referenceCAsn [N]3740
242541592342 rs755339945 0.000byFreq missenseGAsp [D]1740
contig referenceAAsn [N]1740
242541612340 rs781337282 0.000byFreq missenseCPro [P]2739
contig referenceTLeu [L]2739
242541622339 rs377261472 0.000byClusterbyFreq YesmissenseTPhe [F]1739
contig referenceCLeu [L]1739
242541882313 rs575122207 0.000With1000GenomeData0.0002 missenseAAsp [D]2730
contig referenceGGly [G]2730
242541892312 rs777789166 0.000byFreq missenseASer [S]1730
contig referenceGGly [G]1730
242541922309 rs745826502 0.000 missenseALys [K]1729
contig referenceGGlu [E]1729
242541932308 rs772044077 0.000 synonymousTLeu [L]3728
contig referenceCLeu [L]3728
242541972304 rs775373347 0.000 missenseAGln [Q]2727
contig referenceGArg [R]2727
242541982303 rs369781501 0.000byCluster YesmissenseTTrp [W]1727
contig referenceCArg [R]1727
242541992302 rs202107026 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGLeu [L]3726
contig referenceCPhe [F]3726
242542042297 rs150686813 0.000byClusterbyFreq YesmissenseAIle [I]1725
contig referenceGVal [V]1725
242542052296 rs761465837 0.000byFreq synonymousTVal [V]3724
contig referenceCVal [V]3724
242542162285 rs764875382 0.000 missenseGVal [V]1721
contig referenceCLeu [L]1721
242542172284 rs139387079 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTThr [T]3720
contig referenceCThr [T]3720
242542222279 rs373148041 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAIle [I]1719
contig referenceGVal [V]1719
242542232278 rs377403581 0.000byClusterbyFreq YessynonymousTPro [P]3718
contig referenceCPro [P]3718
242542282273 rs752103718 0.000byFreq missenseAIle [I]1717
missenseTPhe [F]1717
contig referenceCLeu [L]1717
242542302271 rs767855778 0.000 missenseTLeu [L]2716
contig referenceCPro [P]2716
242542362265 rs201733667 0.002 YesmissenseGArg [R]2714
contig referenceALys [K]2714
242542422259 rs752892328 0.000 missenseCAla [A]2712
contig referenceTVal [V]2712
242542452256 rs756278598 0.000byFreq missenseCThr [T]2711
contig referenceTIle [I]2711
242542522249 rs777947115 0.000 missenseAIle [I]1709
contig referenceGVal [V]1709
242542562245 rs749407588 0.000byFreq synonymousCCys [C]3707
contig referenceTCys [C]3707
242542652236 rs757321874 0.000 synonymousTGly [G]3704
contig referenceCGly [G]3704
242542742227 rs779909836 0.000 synonymousGAla [A]3701
contig referenceAAla [A]3701
242542752226 rs746902595 0.000byFreq missenseTVal [V]2701
contig referenceCAla [A]2701
242542782223 rs768344716 0.000byFreq missenseAGlu [E]2700
contig referenceCAla [A]2700
242542802221 rs369548118 0.000byCluster YessynonymousGGly [G]3699
contig referenceAGly [G]3699
242542872214 rs747781875 0.000 nonsenseG2697
contig referenceTLeu [L]2697
242546642212 rs748892991 0.000byFreq synonymousAThr [T]3696
contig referenceGThr [T]3696
242546652211 rs574941195 0.000byFreqWith1000GenomeData0.0004 missenseTMet [M]2696
contig referenceCThr [T]2696
242546672209 rs2855112 N.D.byClusterwithHapMapFreq YessynonymousGLeu [L]3695
contig referenceCLeu [L]3695
242546692207 rs773861159 0.000 missenseAIle [I]1695
contig referenceCLeu [L]1695
242546732203 rs143175209 0.000byClusterbyFreq YessynonymousTLeu [L]3693
contig referenceCLeu [L]3693
242546752201 rs541758953 N.D. missenseAIle [I]1693
contig referenceCLeu [L]1693
242546832193 rs372829569 0.000byClusterbyFreq YesmissenseTIle [I]2690
contig referenceCThr [T]2690
242546842192 rs775854698 0.000 missenseTSer [S]1690
contig referenceAThr [T]1690
242546852191 rs761082837 0.000byFreq synonymousTArg [R]3689
contig referenceCArg [R]3689
242546862190 rs764380548 0.000byFreq missenseAHis [H]2689
contig referenceGArg [R]2689
242546872189 rs754059368 0.000byCluster missenseTCys [C]1689
contig referenceCArg [R]1689
242546932183 rs147516124 0.000byCluster YesmissenseTCys [C]1687
contig referenceCArg [R]1687
242547172159 rs765258731 0.000byFreq missenseAMet [M]1679
contig referenceGVal [V]1679
242547202156 rs750568408 0.000 missenseALys [K]1678
contig referenceCGln [Q]1678
242547232153 rs758380663 0.000byFreq missenseAArg [R]1677
contig referenceGGly [G]1677
242547242152 rs781259607 0.000byFreq missenseGArg [R]3676
synonymousTSer [S]3676
contig referenceCSer [S]3676
242547252151 rs755985963 0.000 missenseAAsn [N]2676
contig referenceGSer [S]2676
242547302146 rs140355027 0.000byCluster YessynonymousALys [K]3674
contig referenceGLys [K]3674
242547352141 rs748970601 0.000byFreq missenseAIle [I]1673
contig referenceGVal [V]1673
242547362140 rs756983498 0.000 synonymousTHis [H]3672
contig referenceCHis [H]3672
242547472129 rs2855009 0.009byClusterbyFreqwithHapMapFreq YesmissenseAIle [I]1669
contig referenceGVal [V]1669
242547532123 rs778397528 0.000 missenseTPhe [F]1667
contig referenceCLeu [L]1667
242547562120 rs750925723 N.D. missenseGVal [V]1666
contig referenceCLeu [L]1666
242547592117 rs745449766 0.000byFreq missenseGVal [V]1665
contig referenceAMet [M]1665
242547632113 rs187050700 0.000byClusterWith1000GenomeData0.0002 YessynonymousCGly [G]3663
contig referenceGGly [G]3663
242547722104 rs775986936 0.000 synonymousAVal [V]3660
contig referenceGVal [V]3660
242547842092 rs747446195 0.000 synonymousCArg [R]3656
contig referenceGArg [R]3656
242547852091 rs369173679 0.000byClusterbyFreq YesmissenseAGln [Q]2656
contig referenceGArg [R]2656
242547862090 rs144318024 0.000byClusterbyFreq YesmissenseTTrp [W]1656
synonymousAArg [R]1656
contig referenceCArg [R]1656
242548122064 rs778371971 N.D. missenseGSer [S]2647
contig referenceCThr [T]2647
242548132063 rs866076679 N.D. missenseGAla [A]1647
contig referenceAThr [T]1647
242548162060 rs765539126 0.000 missenseTLeu [L]1646
contig referenceGVal [V]1646
242548182058 rs139837741 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2645
contig referenceGArg [R]2645
242548192057 rs144517528 0.000byClusterbyFreq YesmissenseTCys [C]1645
contig referenceCArg [R]1645
242548212055 rs144489206 0.000byClusterbyFreqWith1000GenomeData YesmissenseGGly [G]2644
contig referenceAAsp [D]2644
242548232053 rs200959566 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousASer [S]3643
contig referenceGSer [S]3643
242548242052 rs756075851 0.000byFreq missenseTLeu [L]2643
contig referenceCSer [S]2643
242549752048 rs199735949 0.000byClusterbyFreq YesmissenseCPro [P]1642
missenseTSer [S]1642
contig referenceGAla [A]1642
242549762047 rs764192689 0.000 synonymousAGly [G]3641
contig referenceGGly [G]3641
242549812042 rs753812357 0.000 missenseTSer [S]1640
contig referenceCPro [P]1640
242549932030 rs148402498 0.000byClusterbyFreq YesmissenseAMet [M]1636
missenseTLeu [L]1636
contig referenceGVal [V]1636
242549942029 rs547689240 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCAsp [D]3635
synonymousGGlu [E]3635
contig referenceAGlu [E]3635
242549982025 rs369855757 0.000byClusterbyFreq YesmissenseCThr [T]2634
contig referenceALys [K]2634
242550002023 rs751113929 0.000 missenseTAsn [N]3633
contig referenceGLys [K]3633
242550271996 rs754482480 0.000 synonymousTVal [V]3624
contig referenceCVal [V]3624
242550531970 rs781709502 0.000byFreq missenseTPhe [F]1616
contig referenceCLeu [L]1616
242550561967 rs376000065 0.000byCluster YesmissenseCHis [H]1615
contig referenceTTyr [Y]1615
242550591964 rs770201228 0.000 missenseTPhe [F]1614
contig referenceCLeu [L]1614
242550721951 rs564390872 0.000byFreqWith1000GenomeData0.0002 synonymousCThr [T]3609
synonymousGThr [T]3609
contig referenceAThr [T]3609
242550761947 rs771317843 0.000byFreq missenseAHis [H]2608
contig referenceGArg [R]2608
242550791944 rs774708318 0.000byFreq missenseAHis [H]2607
contig referenceGArg [R]2607
242550801943 rs2229464 0.003byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0048 YesmissenseTCys [C]1607
contig referenceCArg [R]1607
242550851938 rs772218942 0.000 missenseAAsn [N]2605
contig referenceGSer [S]2605
242550901933 rs776633094 0.000 synonymousTHis [H]3603
contig referenceCHis [H]3603
242551051918 rs151000505 0.000 YessynonymousAVal [V]3598
contig referenceGVal [V]3598
242551321891 rs141134584 0.000byClusterbyFreq YessynonymousTVal [V]3589
contig referenceGVal [V]3589
242551331890 rs765099729 0.000byFreq missenseCAla [A]2589
contig referenceTVal [V]2589
242551351888 rs750237191 0.000byFreq synonymousAAla [A]3588
contig referenceGAla [A]3588
242551361887 rs143322085 0.000byClusterbyFreq YesmissenseTVal [V]2588
contig referenceCAla [A]2588
242551371886 rs146728175 0.001byClusterbyFreq YesmissenseAThr [T]1588
contig referenceGAla [A]1588
242551381885 rs751201972 0.000byFreq synonymousTAsp [D]3587
contig referenceCAsp [D]3587
242551491874 rs533959758 N.D. missenseALys [K]1584
contig referenceGGlu [E]1584
242551501873 rs754498700 0.000 synonymousAVal [V]3583
contig referenceGVal [V]3583
242551551868 rs397514522 N.D. PathogenicnonsenseT1582
contig referenceCGln [Q]1582
242551591864 rs780615877 0.000byFreq synonymousTAla [A]3580
contig referenceCAla [A]3580
242551611862 rs753278878 0.000byCluster missenseCPro [P]1580
missenseTSer [S]1580
contig referenceGAla [A]1580
242551641859 rs528553550 N.D. missenseAMet [M]1579
contig referenceGVal [V]1579
242551681855 rs756529645 0.000 missenseCAsp [D]3577
contig referenceGGlu [E]3577
242551711852 rs369097812 0.000byClusterWith1000GenomeData0.0002 YessynonymousAAla [A]3576
contig referenceGAla [A]3576
242551721851 rs140363039 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTVal [V]2576
contig referenceCAla [A]2576
242551821841 rs771407569 0.000byFreq missenseTTrp [W]1573
contig referenceCArg [R]1573
242551841839 rs779289911 0.000byFreq missenseCThr [T]2572
contig referenceAAsn [N]2572
242551851838 rs746018070 0.000byFreq missenseCHis [H]1572
contig referenceAAsn [N]1572
242551951828 rs772307070 0.000byFreq missenseGLys [K]3568
synonymousCAsn [N]3568
contig referenceTAsn [N]3568
242551961827 rs150428149 0.000byClusterbyFreq YesmissenseGSer [S]2568
contig referenceAAsn [N]2568
242552001823 rs769663593 0.000byFreq missenseAThr [T]1567
contig referenceCPro [P]1567
242552051818 rs773200488 0.000 missenseAAsn [N]2565
contig referenceGSer [S]2565
242552091814 rs762797327 0.000byFreq missenseASer [S]1564
contig referenceGGly [G]1564
242552101813 rs538295056 0.000byFreqWith1000GenomeData0.0002 synonymousTHis [H]3563
contig referenceCHis [H]3563
242552121811 rs751219893 0.000 missenseTTyr [Y]1563
contig referenceCHis [H]1563
242552141808 rs775196375 0.000 (27bp) [cds-indel]1561
242552161807 rs760229890 N.D. synonymousTAla [A]3561
contig referenceAAla [A]3561
242552271796 rs759151284 0.000 missenseALys [K]1558
contig referenceGGlu [E]1558
242552341789 rs767076645 0.000byFreq synonymousALys [K]3555
contig referenceGLys [K]3555
242552381785 rs372839534 0.000byClusterbyFreq YesmissenseAGln [Q]2554
missenseTLeu [L]2554
contig referenceGArg [R]2554
242552391784 rs764567765 0.000byClusterbyFreq missenseTTrp [W]1554
contig referenceCArg [R]1554
242552401783 rs754311329 0.000byFreq synonymousAGlu [E]3553
contig referenceGGlu [E]3553
242552451778 rs757697165 0.000byFreq missenseAThr [T]1552
contig referenceGAla [A]1552
242552461777 rs2855111 0.000byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0008 YesmissenseGGlu [E]3551
synonymousTAsp [D]3551
contig referenceCAsp [D]3551
242552471776 rs746110699 0.000 missenseTVal [V]2551
contig referenceAAsp [D]2551
242552481775 rs758739021 0.000byFreq missenseAAsn [N]1551
missenseCHis [H]1551
contig referenceGAsp [D]1551
242552511772 rs747128345 0.000 missenseCPro [P]1550
contig referenceTSer [S]1550
242553711762 rs556165359 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]3546
contig referenceCHis [H]3546
242553731760 rs771840484 0.000 missenseTTyr [Y]1546
contig referenceCHis [H]1546
242553871746 rs751876711 N.D. missenseGSer [S]2541
contig referenceCThr [T]2541
242553881745 rs587779765 N.D. PathogenicmissenseCPro [P]1541
contig referenceAThr [T]1541
242553921741 rs575958464 0.000With1000GenomeData0.0002 synonymousTAsp [D]3539
contig referenceCAsp [D]3539
242553991734 rs761557071 0.000byFreq missenseAGln [Q]2537
contig referenceGArg [R]2537
242554051728 rs763531422 0.000 missenseGSer [S]2535
contig referenceAAsn [N]2535
242554131694 rs776552228 0.000 -1524
242554191714 rs776328019 0.000 synonymousALys [K]3530
contig referenceGLys [K]3530
242554231710 rs761372792 0.000 missenseTIle [I]2529
contig referenceCThr [T]2529
242554391694 rs765914927 0.000 missenseASer [S]1524
contig referenceGGly [G]1524
242554401693 rs750955048 0.000byFreq synonymousTIle [I]3523
contig referenceCIle [I]3523
242554461687 rs763244527 0.000 synonymousALys [K]3521
contig referenceGLys [K]3521
242554501683 rs142404759 0.011byClusterbyFreqWith1000GenomeData0.0016 YesLikely benignmissenseGGly [G]2520
contig referenceAGlu [E]2520
242554571676 rs35312232 0.021byClusterbyFreqWith1000GenomeData0.0036 YesPathogenicmissenseAMet [M]1518
contig referenceGVal [V]1518
242554591674 rs755178560 0.000 missenseCSer [S]2517
contig referenceATyr [Y]2517
242554611672 rs201388438 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCVal [V]3516
contig referenceTVal [V]3516
242554801653 rs139320583 0.000byCluster YesmissenseGGly [G]2510
contig referenceAAsp [D]2510
242554811652 rs7147300 0.000byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0002 YesmissenseAAsn [N]1510
contig referenceGAsp [D]1510
242554851648 rs2748529 0.000 YesmissenseCHis [H]3508
synonymousAGln [Q]3508
contig referenceGGln [Q]3508
242554881645 rs2855110 N.D. YessynonymousCArg [R]3507
contig referenceGArg [R]3507
242554901643 rs200829531 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTTrp [W]1507
contig referenceCArg [R]1507
242554911642 rs143320733 0.000byCluster YessynonymousAGln [Q]3506
contig referenceGGln [Q]3506
242559911613 rs866852379 N.D. nonsenseT1497
contig referenceGGlu [E]1497
242559941610 rs868866252 N.D. missenseTSer [S]1496
contig referenceGAla [A]1496
242560071597 rs187372624 0.000byClusterWith1000GenomeData YessynonymousAThr [T]3491
contig referenceGThr [T]3491
242560111593 rs121918724 0.000byClusterbyFreq YesPathogenicmissenseGGly [G]2490
contig referenceAAsp [D]2490
242560121592 rs866229566 N.D. missenseTTyr [Y]1490
contig referenceGAsp [D]1490
242560131591 rs768561754 0.000byFreq synonymousTTyr [Y]3489
contig referenceCTyr [Y]3489
242560281576 rs2855109 0.000withHapMapFreq YessynonymousCLeu [L]3484
synonymousTLeu [L]3484
contig referenceGLeu [L]3484
242560311573 rs2748528 N.D.withHapMapFreq YessynonymousGGly [G]3483
contig referenceCGly [G]3483
242560361568 rs747739923 0.000 missenseGAsp [D]1482
contig referenceAAsn [N]1482
242560421562 rs377119683 0.000byClusterbyFreq YesmissenseTPhe [F]1480
contig referenceAIle [I]1480
242560431561 rs772800253 0.000 synonymousTSer [S]3479
contig referenceCSer [S]3479
242560461558 rs748725054 0.000 synonymousAGlu [E]3478
contig referenceGGlu [E]3478
242560551549 rs369128286 0.000byClusterbyFreq YessynonymousTCys [C]3475
contig referenceCCys [C]3475
242560581546 rs774717848 0.000 synonymousTPro [P]3474
contig referenceCPro [P]3474
242560621542 rs535121937 0.000With1000GenomeData0.0002 missenseTVal [V]2473
contig referenceGGly [G]2473
242560621542 rs758030729 0.000 frame shift-Ala [A]2473
contig referenceGGly [G]2473
242560641540 rs759957199 0.000byFreq synonymousTCys [C]3472
contig referenceCCys [C]3472
242560741530 rs767801047 0.000 missenseCThr [T]2469
contig referenceTIle [I]2469
242560771527 rs147078520 0.000 YesmissenseAAsp [D]2468
contig referenceGGly [G]2468
242582851525 rs766035647 0.000 frame shiftTTrp [W]3468
contig reference-Gly [G]3468
242582931518 rs770335603 0.000 missenseTIle [I]2465
contig referenceCThr [T]2465
242582971514 rs774925814 0.000 missenseALys [K]1464
contig referenceGGlu [E]1464
242583131498 rs199623333 0.002 YessynonymousAVal [V]3458
contig referenceGVal [V]3458
242583241487 rs863223405 N.D. PathogenicmissenseCArg [R]1455
contig referenceTTrp [W]1455
242583281483 rs746332814 0.000byFreq synonymousCAsp [D]3453
contig referenceTAsp [D]3453
242583371474 rs571310594 0.000byFreqWith1000GenomeData0.0002 synonymousASer [S]3450
synonymousCSer [S]3450
contig referenceGSer [S]3450
242583381473 rs760993072 0.000 missenseTLeu [L]2450
contig referenceCSer [S]2450
242583431468 rs2855105 0.000byClusterwithHapMapFreq YessynonymousALeu [L]3448
synonymousCLeu [L]3448
contig referenceGLeu [L]3448
242583491462 rs776701915 0.000 synonymousAPro [P]3446
contig referenceGPro [P]3446
242583551455 rs398122903 N.D. Pathogenicframe shiftAGlu [E]2445
contig reference-Arg [R]2445
242583691442 rs761968652 0.000 missenseAAsn [N]1440
contig referenceGAsp [D]1440
242583701441 rs141972252 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsn [N]3439
contig referenceCAsn [N]3439
242583791432 rs751551536 0.000byFreq synonymousCHis [H]3436
contig referenceTHis [H]3436
242583801427 rs398122900 N.D. Pathogenicframe shift-Cys [C]1435
contig referenceTTCCAPhe [F]1435
242583841427 rs754922174 0.000 missenseGVal [V]1435
contig referenceTPhe [F]1435
242585551402 rs761903751 0.000byFreq missenseAGln [Q]3426
contig referenceCHis [H]3426
242585611396 rs552834286 0.000With1000GenomeData0.0002 synonymousALeu [L]3424
contig referenceGLeu [L]3424
242585641393 rs572832245 0.000With1000GenomeData0.0002 synonymousTPro [P]3423
contig referenceCPro [P]3423
242585661391 rs763095024 0.000byFreq missenseAThr [T]1423
missenseTSer [S]1423
contig referenceCPro [P]1423
242585691388 rs563305936 N.D. nonsenseT1422
contig referenceALys [K]1422
242585721385 rs752670603 0.000 missenseCLeu [L]1421
contig referenceAMet [M]1421
242585761381 rs760562528 0.000 synonymousAGlu [E]3419
contig referenceGGlu [E]3419
242585781379 rs374898509 0.000byClusterbyFreq YesmissenseALys [K]1419
contig referenceGGlu [E]1419
242585791378 rs150739753 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsp [D]3418
contig referenceCAsp [D]3418
242585811376 rs756907283 0.000 missenseAAsn [N]1418
contig referenceGAsp [D]1418
242585821375 rs778596476 0.000byFreq missenseGLeu [L]3417
synonymousTPhe [F]3417
contig referenceCPhe [F]3417
242585871370 rs757886765 0.000 missenseCHis [H]1416
contig referenceTTyr [Y]1416
242585901367 rs780550366 0.000byFreq missenseGVal [V]1415
contig referenceAIle [I]1415
242586041353 rs747452503 0.000 missenseATyr [Y]2410
contig referenceCSer [S]2410
242586061347 rs398122905 0.000byClusterbyFreq Pathogenicframe shift-Val [V]2408
contig referenceACACAAsp [D]2408
242586061351 rs769098662 0.000byFreq synonymousTThr [T]3409
contig referenceAThr [T]3409
242586151342 rs781366138 0.000byFreq missenseGGlu [E]3406
contig referenceCAsp [D]3406
242586171340 rs200050519 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsn [N]1406
contig referenceGAsp [D]1406
242586181339 rs769950645 0.000byFreq synonymousTHis [H]3405
contig referenceCHis [H]3405
242586201337 rs773565490 0.000 missenseGAsp [D]1405
contig referenceCHis [H]1405
242586281329 rs763185124 0.000 missenseGSer [S]2402
contig referenceAAsn [N]2402
242586341323 rs771078653 0.000byFreq missenseGSer [S]2400
contig referenceAAsn [N]2400
242586461311 rs121918721 0.000byClusterbyFreqWith1000GenomeData0.0006 YesPathogenicmissenseAHis [H]2396
missenseTLeu [L]2396
contig referenceGArg [R]2396
242586471310 rs543521135 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]1396
contig referenceCArg [R]1396
242586491308 rs372498705 0.000byClusterbyFreq YesmissenseTIle [I]2395
contig referenceCThr [T]2395
242586541303 rs761659999 0.000 synonymousALeu [L]3393
contig referenceGLeu [L]3393
242586581299 rs121918726 N.D. YesPathogenicmissenseAAsp [D]2392
contig referenceGGly [G]2392
242586671290 rs121918723 0.000byClusterbyFreq YesPathogenicmissenseAHis [H]2389
missenseCPro [P]2389
contig referenceGArg [R]2389
242586681289 rs757905282 0.000 missenseTCys [C]1389
contig referenceCArg [R]1389
242590791279 rs571513690 0.000With1000GenomeData0.0002 synonymousAThr [T]3385
contig referenceCThr [T]3385
242590871271 rs121918722 N.D. YesPathogenicmissenseAMet [M]1383
contig referenceGVal [V]1383
242590881270 rs1126432 0.282byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1554 YessynonymousAGly [G]3382
contig referenceCGly [G]3382
242590911267 rs149449576 0.000byClusterbyFreq YessynonymousGAla [A]3381
contig referenceTAla [A]3381
242590961262 rs529243676 N.D.byCluster missenseCLeu [L]1380
contig referenceTPhe [F]1380
242590971261 rs767043223 N.D. synonymousGVal [V]3379
contig referenceCVal [V]3379
242590991259 rs121918720 0.000byClusterbyFreqWith1000GenomeData0.0002 YesPathogenicmissenseAIle [I]1379
missenseCLeu [L]1379
contig referenceGVal [V]1379
242591061252 rs769601827 0.000 synonymousAGln [Q]3376
contig referenceGGln [Q]3376
242591181240 rs2855005 N.D.byClusterwithHapMapFreq YessynonymousAVal [V]3372
contig referenceCVal [V]3372
242591201238 rs41293794 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseAIle [I]1372
contig referenceGVal [V]1372
242591211237 rs61747601 0.002byClusterbyFreqWith1000GenomeData0.0026 YessynonymousTSer [S]3371
contig referenceCSer [S]3371
242591221236 rs766091239 0.000 missenseTPhe [F]2371
contig referenceCSer [S]2371
242591261232 rs774039917 0.000 missenseCHis [H]1370
contig referenceTTyr [Y]1370
242591311227 rs199786703 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTMet [M]2368
contig referenceCThr [T]2368
242591341224 rs139949065 0.000byClusterbyFreq YesmissenseAHis [H]2367
contig referenceGArg [R]2367
242591351223 rs753178188 0.000 missenseTCys [C]1367
contig referenceCArg [R]1367
242591401218 rs756732717 0.000byFreq missenseGCys [C]2365
contig referenceATyr [Y]2365
242591421216 rs764663238 0.000byFreq missenseGArg [R]3364
synonymousTSer [S]3364
contig referenceCSer [S]3364
242591531205 rs757682828 0.000 missenseGVal [V]1361
contig referenceAIle [I]1361
242591591199 rs202037016 0.000byCluster YesPathogenicmissenseAMet [M]1359
contig referenceGVal [V]1359
242591601198 rs779287673 0.000byFreq missenseGArg [R]3358
contig referenceCSer [S]3358
242591651193 rs750591055 0.000 missenseASer [S]1357
contig referenceGGly [G]1357
242591721186 rs758437844 0.000byFreq synonymousAAla [A]3354
synonymousCAla [A]3354
contig referenceGAla [A]3354
242591751183 rs747038767 0.000 synonymousTSer [S]3353
contig referenceASer [S]3353
242591811177 rs769764727 0.000byFreq missenseALys [K]3351
contig referenceCAsn [N]3351
242591891169 rs777683020 0.000 missenseASer [S]1349
contig referenceGGly [G]1349
242591911167 rs201379408 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2348
contig referenceGArg [R]2348
242591931165 rs545348591 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGSer [S]3347
synonymousTSer [S]3347
contig referenceCSer [S]3347
242592011157 rs565588144 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1345
contig referenceGAsp [D]1345
242592151143 rs867950920 N.D. missenseTVal [V]2340
contig referenceGGly [G]2340
242592371121 rs759190792 0.000 missenseAAsn [N]1333
contig referenceGAsp [D]1333
242597101101 rs786205485 N.D. Likely pathogenicframe shift-Cys [C]2326
contig referenceCTSer [S]2326
242597161096 rs373557209 0.000byCluster YessynonymousAVal [V]3324
synonymousTVal [V]3324
contig referenceCVal [V]3324
242597201092 rs121918717 0.000byClusterbyFreq YesPathogenicmissenseAGln [Q]2323
contig referenceGArg [R]2323
242597211091 rs771820315 0.000 missenseTTrp [W]1323
contig referenceCArg [R]1323
242597231089 rs774987995 0.000 missenseGCys [C]2322
contig referenceCSer [S]2322
242597251087 rs760270638 0.000byFreq synonymousTVal [V]3321
contig referenceCVal [V]3321
242597291083 rs768214832 0.000 missenseGSer [S]2320
contig referenceAAsn [N]2320
242597301082 rs777308173 0.000 missenseGAsp [D]1320
contig referenceAAsn [N]1320
242597351077 rs755366540 0.000 frame shift-Gln [Q]2318
contig referenceCPro [P]2318
242597381074 rs762359834 0.000 missenseGGly [G]2317
contig referenceAAsp [D]2317
242597441068 rs143473912 0.000byClusterbyFreq YesPathogenicmissenseAHis [H]2315
missenseTLeu [L]2315
contig referenceGArg [R]2315
242597451067 rs397514525 N.D. PathogenicmissenseTCys [C]1315
contig referenceCArg [R]1315
242597651047 rs201328637 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAGln [Q]2308
contig referenceGArg [R]2308
242597681044 rs146770534 0.001byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAGln [Q]2307
contig referenceGArg [R]2307
242597691043 rs121918731 0.000byClusterbyFreqWith1000GenomeData0.0004 YesPathogenicmissenseGGly [G]1307
missenseTTrp [W]1307
contig referenceCArg [R]1307
242597701042 rs767547778 0.000 synonymousTAsp [D]3306
contig referenceCAsp [D]3306
242597781034 rs753798494 0.000 Likely pathogenicmissenseTPhe [F]1304
contig referenceAIle [I]1304
242597801032 rs757256224 0.000 missenseGCys [C]2303
contig referenceATyr [Y]2303
242597971015 rs768880844 0.000byFreq synonymousAVal [V]3297
contig referenceGVal [V]3297
242598011011 rs758067421 0.000 missenseAGlu [E]2296
contig referenceGGly [G]2296
242598021010 rs779761866 0.000byFreq missenseAArg [R]1296
missenseTTrp [W]1296
contig referenceGGly [G]1296
242598031009 rs186352813 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTHis [H]3295
contig referenceCHis [H]3295
24259944996 rs780990272 0.000byFreq missenseAAsp [D]2291
contig referenceGGly [G]2291
24259946994 rs539904518 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3290
contig referenceCTyr [Y]3290
24259950990 rs121918730 0.000byCluster YesPathogenicmissenseCThr [T]2289
missenseGSer [S]2289
contig referenceAAsn [N]2289
24259959981 rs121918727 0.000byClusterbyFreq YesPathogenicmissenseAGln [Q]2286
contig referenceGArg [R]2286
24259960980 rs773777400 0.000 missenseTTrp [W]1286
contig referenceCArg [R]1286
24259963977 rs749721551 0.000byCluster missenseALys [K]1285
contig referenceGGlu [E]1285
24259978962 rs150181059 0.000byClusterbyFreq YesmissenseALys [K]1280
missenseCGln [Q]1280
contig referenceGGlu [E]1280
24259979961 rs370435399 0.000byClusterbyFreq YessynonymousTThr [T]3279
contig referenceCThr [T]3279
24259982958 rs767782456 0.000 synonymousAGly [G]3278
contig referenceGGly [G]3278
24259984956 rs121918725 0.000byClusterbyFreq YesPathogenicmissenseAArg [R]1278
contig referenceGGly [G]1278
24259985955 rs559847457 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3277
contig referenceCTyr [Y]3277
24259990950 rs397514523 N.D.byCluster PathogenicmissenseAAsn [N]1276
contig referenceTTyr [Y]1276
24259994937 rs778038848 0.000 frame shift-Phe [F]3272
contig reference(10bp)Ser [S]3272
24260002938 rs764040146 0.000 missenseCPro [P]1272
contig referenceTSer [S]1272
24260012928 rs200870283 0.002 YessynonymousCVal [V]3268
contig referenceTVal [V]3268
24260015925 rs750395926 0.000 synonymousCTyr [Y]3267
contig referenceTTyr [Y]3267
24260016924 rs762845943 0.000byFreq missenseGCys [C]2267
missenseTPhe [F]2267
contig referenceATyr [Y]2267
24260017923 rs750815702 N.D. missenseCHis [H]1267
contig referenceTTyr [Y]1267
24260018922 rs751468985 0.000 synonymousAGlu [E]3266
contig referenceGGlu [E]3266
24260021919 rs754808781 0.000 missenseCHis [H]3265
contig referenceGGln [Q]3265
24260024916 rs532184407 0.000With1000GenomeData0.0002 synonymousTArg [R]3264
contig referenceGArg [R]3264
24260025915 rs781006633 0.000byClusterbyFreq missenseAGln [Q]2264
contig referenceGArg [R]2264
24260026914 rs201868387 0.000byCluster YesmissenseTTrp [W]1264
contig referenceCArg [R]1264
24260028912 rs367699137 0.000byClusterbyFreq YesnonsenseA2263
contig referenceGTrp [W]2263
24260030910 rs755685678 0.000 synonymousCAsp [D]3262
contig referenceTAsp [D]3262
24260033907 rs777103051 0.000 synonymousAGlu [E]3261
contig referenceGGlu [E]3261
24260043897 rs748811947 0.000 missenseGGly [G]2258
contig referenceTVal [V]2258
24260044896 rs771471341 0.000byFreq missenseAMet [M]1258
contig referenceGVal [V]1258
24260045895 rs141590446 0.000byClusterbyFreq YessynonymousTTyr [Y]3257
contig referenceCTyr [Y]3257
24260051889 rs372360509 0.000byCluster YessynonymousCIle [I]3255
contig referenceTIle [I]3255
24260459872 rs318240748 N.D. YesmissenseGGly [G]1250
contig referenceTTrp [W]1250
24260462869 rs762000108 0.000 missenseAThr [T]1249
contig referenceCPro [P]1249
24260472859 rs769928814 0.000 synonymousAIle [I]3245
contig referenceCIle [I]3245
24260474857 rs199820979 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGVal [V]1245
contig referenceAIle [I]1245
24260475856 rs759501423 0.000 synonymousTTyr [Y]3244
contig referenceCTyr [Y]3244
24260481850 rs35755034 0.072byClusterbyFreqWith1000GenomeData0.0581 YessynonymousAGlu [E]3242
synonymousAGlu [E]3242
synonymousAGlu [E]3242
contig referenceGGlu [E]3242
contig referenceGGlu [E]3242
contig referenceGGlu [E]3242
24260483848 rs201572824 0.002 YesmissenseALys [K]1242
contig referenceGGlu [E]1242
24260485846 rs775191936 0.000 missenseGSer [S]2241
contig referenceAAsn [N]2241
24260488843 rs138574046 0.000byClusterbyFreq YesmissenseAHis [H]2240
contig referenceGArg [R]2240
24260489842 rs763663668 0.000byFreq missenseTCys [C]1240
contig referenceCArg [R]1240
24260492839 rs753460914 0.000 missenseTSer [S]1239
contig referenceCPro [P]1239
24260499832 rs756786967 0.000 synonymousTPro [P]3236
contig referenceCPro [P]3236
24260501830 rs371837832 0.000byClusterbyFreq YesmissenseTSer [S]1236
contig referenceCPro [P]1236
24260511820 rs149605227 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAGlu [E]3232
contig referenceGGlu [E]3232
24260512819 rs758944662 0.000 missenseGGly [G]2232
contig referenceAGlu [E]2232
24260519812 rs531428094 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]1230
missenseTSer [S]1230
contig referenceGAla [A]1230
24260520811 rs143352384 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAsp [D]3229
contig referenceCAsp [D]3229
24260523808 rs369162984 0.000byClusterbyFreq YessynonymousGSer [S]3228
contig referenceASer [S]3228
24260526805 rs368775721 0.000 YessynonymousGGln [Q]3227
contig referenceAGln [Q]3227
24260532799 rs748341131 0.000 synonymousTArg [R]3225
contig referenceCArg [R]3225
24260533798 rs549195122 0.000byClusterbyFreq missenseAHis [H]2225
contig referenceGArg [R]2225
24260534797 rs773479626 0.000byFreq missenseTCys [C]1225
contig referenceCArg [R]1225
24260538793 rs749350038 0.000 synonymousCThr [T]3223
contig referenceAThr [T]3223
24260547784 rs201493499 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousCPhe [F]3220
contig referenceTPhe [F]3220
24260554777 rs775437367 0.000 missenseAAsp [D]2218
contig referenceGGly [G]2218
24260555776 rs121918732 0.000byCluster YesPathogenicmissenseASer [S]1218
contig referenceGGly [G]1218
24260556775 rs763906036 0.000 synonymousTIle [I]3217
contig referenceCIle [I]3217
24260564767 rs772025093 0.000byFreq missenseAThr [T]1215
contig referenceGAla [A]1215
24260565766 rs761501855 0.000 synonymousTAsn [N]3214
contig referenceCAsn [N]3214
24260566765 rs147994543 0.000byClusterbyFreq YesmissenseGSer [S]2214
contig referenceAAsn [N]2214
24260567764 rs749999915 0.000 missenseGAsp [D]1214
contig referenceAAsn [N]1214
24260569762 rs757888791 0.000byFreq missenseGArg [R]2213
contig referenceCPro [P]2213
24260570761 rs530095586 0.000With1000GenomeData0.0002 missenseTSer [S]1213
contig referenceCPro [P]1213
24260571760 rs377705451 0.000byClusterbyFreq YessynonymousTSer [S]3212
contig referenceCSer [S]3212
24260575756 rs200894024 0.000byClusterWith1000GenomeData0.0002 YesmissenseTIle [I]2211
contig referenceCThr [T]2211
24260576755 rs566962779 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGAla [A]1211
contig referenceAThr [T]1211
24260580751 rs781571622 0.000 synonymousTVal [V]3209
contig referenceCVal [V]3209
24260583748 rs748504712 0.000byFreq synonymousAArg [R]3208
contig referenceGArg [R]3208
24260584747 rs369636498 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2208
contig referenceGArg [R]2208
24260585746 rs778139253 0.000 missenseTTrp [W]1208
contig referenceCArg [R]1208
24260591740 rs867508940 N.D. missenseTTyr [Y]1206
contig referenceAAsn [N]1206
24260593738 rs878853259 N.D. PathogenicmissenseAGln [Q]2205
contig referenceTLeu [L]2205
24260595736 rs552396029 0.000With1000GenomeData0.0002 missenseALys [K]3204
contig referenceTAsn [N]3204
24260597734 rs770973858 0.000 missenseGAsp [D]1204
contig referenceAAsn [N]1204
24260600731 rs201167101 0.000byClusterWith1000GenomeData0.0002 YesnonsenseT1203
contig referenceCGln [Q]1203
24260601730 rs775319268 0.000 synonymousAGly [G]3202
contig referenceGGly [G]3202
24260603728 rs141685762 0.000byClusterbyFreq YesmissenseAArg [R]1202
contig referenceGGly [G]1202
24260619712 rs768452927 0.000byFreq synonymousAGln [Q]3196
contig referenceGGln [Q]3196
24260620711 rs538074682 0.000byFreqWith1000GenomeData0.0004 missenseGArg [R]2196
contig referenceAGln [Q]2196
24260622709 rs761591850 0.000 synonymousTAla [A]3195
contig referenceCAla [A]3195
24260628703 rs199678720 0.000byClusterbyFreq YesnonsenseA3193
missenseCCys [C]3193
contig referenceGTrp [W]3193
24260632699 rs762375778 0.000byFreq missenseCAla [A]2192
contig referenceGGly [G]2192
24260633698 rs765874994 0.000byFreq missenseASer [S]1192
contig referenceGGly [G]1192
24260643688 rs752029585 0.000byFreq synonymousAGly [G]3188
contig referenceGGly [G]3188
24260645686 rs760139170 0.000byFreq missenseAArg [R]1188
missenseCArg [R]1188
contig referenceGGly [G]1188
24260652679 rs753181868 0.000byFreq synonymousAVal [V]3185
contig referenceGVal [V]3185
24260657674 rs200517023 0.002byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTSer [S]1184
contig referenceCPro [P]1184
24260666665 rs778143033 0.000byFreq missenseAMet [M]1181
contig referenceGVal [V]1181
24260667664 rs145981439 0.000byClusterbyFreqWith1000GenomeData0.0010 YessynonymousTHis [H]3180
contig referenceCHis [H]3180
24260670661 rs757301708 0.000 synonymousAThr [T]3179
contig referenceGThr [T]3179
24260671660 rs779095091 0.000byFreq missenseTMet [M]2179
contig referenceCThr [T]2179
24260681650 rs374723129 0.000 YesmissenseASer [S]1176
contig referenceGGly [G]1176
24260682649 rs200092961 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAVal [V]3175
contig referenceGVal [V]3175
24260687644 rs768705863 0.000 missenseALys [K]1174
contig referenceGGlu [E]1174
24260688643 rs139811103 0.000byClusterbyFreq YessynonymousTPro [P]3173
contig referenceCPro [P]3173
24260690641 rs553309439 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]1173
contig referenceCPro [P]1173
24260691640 rs769512970 0.000 synonymousTAsn [N]3172
contig referenceCAsn [N]3172
24261696631 rs770687478 0.000byFreq synonymousTIle [I]3169
contig referenceCIle [I]3169
24261699628 rs773864507 0.000byFreq synonymousTLeu [L]3168
contig referenceCLeu [L]3168
24261711616 rs541307680 0.000byFreqWith1000GenomeData0.0002 synonymousAThr [T]3164
contig referenceCThr [T]3164
24261718609 rs771665132 0.000 missenseAHis [H]2162
contig referenceGArg [R]2162
24261719608 rs199894209 0.000byClusterbyFreq YesmissenseGGly [G]1162
missenseTCys [C]1162
contig referenceCArg [R]1162
24261724603 rs121918728 N.D.byCluster YesPathogenicmissenseGCys [C]2160
contig referenceCSer [S]2160
24261726601 rs764662851 0.000byFreq synonymousASer [S]3159
synonymousTSer [S]3159
contig referenceCSer [S]3159
24261727600 rs762069170 0.000byFreq missenseTPhe [F]2159
contig referenceCSer [S]2159
24261731596 rs765510569 0.000 missenseCGln [Q]1158
contig referenceGGlu [E]1158
24261733594 rs750543171 0.000 missenseGCys [C]2157
contig referenceATyr [Y]2157
24261739588 rs374574340 0.000byCluster YesmissenseAGln [Q]2155
contig referenceGArg [R]2155
24261740587 rs187901859 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTTrp [W]1155
contig referenceCArg [R]1155
24261745580 rs746008257 0.000 -3153
24261746581 rs751619088 0.000byFreq synonymousTLeu [L]1153
contig referenceCLeu [L]1153
24261749578 rs532525772 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]1152
missenseTPhe [F]1152
contig referenceCLeu [L]1152
24261766561 rs749167940 0.000 missenseGArg [R]2146
contig referenceCPro [P]2146
24261771556 rs141559048 0.002byClusterbyFreqWith1000GenomeData0.0006 YessynonymousAGly [G]3144
contig referenceGGly [G]3144
24261773554 rs778635368 0.000 missenseAArg [R]1144
contig referenceGGly [G]1144
24261774553 rs144989372 0.001byClusterbyFreqWith1000GenomeData0.0020 YessynonymousTArg [R]3143
contig referenceCArg [R]3143
24261775552 rs121918719 N.D. YesPathogenicmissenseAHis [H]2143
contig referenceGArg [R]2143
24261776551 rs531650682 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1143
contig referenceCArg [R]1143
24261778549 rs121918718 0.000byCluster YesPathogenicmissenseAHis [H]2142
contig referenceGArg [R]2142
24261779548 rs121918716 0.000byCluster YesPathogenicmissenseTCys [C]1142
contig referenceCArg [R]1142
24261781546 rs769342810 0.000 missenseGGly [G]2141
contig referenceTVal [V]2141
24261783544 rs139208806 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGMet [M]3140
contig referenceAIle [I]3140
24261785542 rs149923908 0.000byClusterbyFreq YesmissenseGVal [V]1140
contig referenceAIle [I]1140
24261791536 rs765478385 0.000byFreq missenseALys [K]1138
contig referenceGGlu [E]1138
24261792535 rs145002586 0.001byClusterbyFreqWith1000GenomeData0.0010 YessynonymousTAsp [D]3137
contig referenceCAsp [D]3137
24261794533 rs149089854 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsn [N]1137
contig referenceGAsp [D]1137
24261795532 rs142338588 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseA3136
synonymousTTyr [Y]3136
contig referenceCTyr [Y]3136
24261802525 rs147916609 0.000byClusterbyFreq YesmissenseGCys [C]2134
contig referenceATyr [Y]2134
24261805520 rs768506846 0.000 -3132
24261806521 rs141524659 0.000byClusterbyFreq YesmissenseALys [K]1133
missenseCGln [Q]1133
contig referenceGGlu [E]1133
24261807520 rs376590179 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsp [D]3132
contig referenceCAsp [D]3132
24261808519 rs780000520 0.000 missenseGGly [G]2132
contig referenceAAsp [D]2132
24261809518 rs2229462 0.002byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0030 YesmissenseAAsn [N]1132
contig referenceGAsp [D]1132
24261810517 rs746939150 0.000 synonymousGThr [T]3131
contig referenceAThr [T]3131
24261820507 rs138592626 0.003byClusterbyFreqWith1000GenomeData0.0034 YesmissenseGGly [G]2128
contig referenceAGlu [E]2128
24261823504 rs371944908 0.000byClusterbyFreq YesmissenseAGln [Q]2127
contig referenceGArg [R]2127
24261826501 rs200491579 0.000byClusterbyFreq YesmissenseAHis [H]2126
contig referenceGArg [R]2126
24261827500 rs397514524 0.000byClusterbyFreq PathogenicmissenseTCys [C]1126
contig referenceCArg [R]1126
24261834493 rs748555249 0.000 synonymousTAsp [D]3123
contig referenceCAsp [D]3123
24261837490 rs17102410 0.023byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0335 YessynonymousASer [S]3122
synonymousASer [S]3122
contig referenceGSer [S]3122
contig referenceGSer [S]3122
24261838489 rs141486741 0.003byClusterbyFreqWith1000GenomeData0.0062 YesmissenseTLeu [L]2122
contig referenceCSer [S]2122
24261841486 rs763303938 0.000byFreq missenseAHis [H]2121
missenseTLeu [L]2121
contig referenceGArg [R]2121
24261842485 rs80145541 0.003byClusterbyFreqWith1000GenomeData0.0042 YesmissenseTCys [C]1121
contig referenceCArg [R]1121
24261843484 rs41295444 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousASer [S]3120
contig referenceGSer [S]3120
24261844483 rs138885883 0.000byClusterbyFreq YesmissenseTLeu [L]2120
contig referenceCSer [S]2120
24261846481 rs752796535 0.000byFreq synonymousTSer [S]3119
contig referenceCSer [S]3119
24261857470 rs148993226 0.000byCluster YesmissenseAAsn [N]1116
contig referenceGAsp [D]1116
24261862465 rs765214286 0.000 missenseAAsp [D]2114
contig referenceGGly [G]2114
24261863464 rs750299116 0.000 missenseASer [S]1114
contig referenceGGly [G]1114
24261864463 rs144651432 0.000byClusterbyFreq YessynonymousTAsn [N]3113
contig referenceCAsn [N]3113
24261868459 rs779855523 0.000byFreq missenseCAla [A]2112
contig referenceTVal [V]2112
24261872455 rs751217406 0.000 missenseAIle [I]1111
contig referenceGVal [V]1111
24261875452 rs754537753 0.000byFreq missenseGVal [V]1110
contig referenceCLeu [L]1110
24261878449 rs781313993 N.D. missenseGVal [V]1109
contig referenceAMet [M]1109
24261880447 rs780616986 0.000byFreq missenseAAsp [D]2108
contig referenceGGly [G]2108
24262034443 rs376728988 0.000byCluster YesmissenseALys [K]1107
contig referenceGGlu [E]1107
24262036441 rs369941973 0.000byCluster YesmissenseAGln [Q]2106
contig referenceGArg [R]2106
24262037440 rs773303931 0.000byFreq nonsenseT1106
contig referenceCArg [R]1106
24262038439 rs763033733 0.000byFreq missenseGMet [M]3105
synonymousTIle [I]3105
contig referenceCIle [I]3105
24262048429 rs398122901 0.000byCluster PathogenicmissenseGGly [G]2102
missenseTVal [V]2102
contig referenceAAsp [D]2102
24262056421 rs41295340 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGAla [A]399
contig referenceAAla [A]399
24262059418 rs767091325 0.000 synonymousCAsn [N]398
contig referenceTAsn [N]398
24262060417 rs575342998 N.D.byCluster missenseGSer [S]298
contig referenceAAsn [N]298
24262067410 rs547714904 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]196
contig referenceGGly [G]196
24262068409 rs2228336 0.004byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0068 synonymousTSer [S]395
contig referenceCSer [S]395
24262072405 rs121918729 0.000byClusterbyFreqWith1000GenomeData0.0008 PathogenicmissenseAAsp [D]294
contig referenceGGly [G]294
24262075402 rs753328770 0.000 missenseAGln [Q]293
contig referenceGArg [R]293
24262076401 rs757823355 0.000byFreq missenseTTrp [W]193
contig referenceCArg [R]193
24262082395 rs779376697 0.000byFreq missenseCLeu [L]191
contig referenceGVal [V]191
24262083394 rs201400055 0.000byClusterbyFreq synonymousAPro [P]390
contig referenceTPro [P]390
24262086391 rs758721094 0.000byFreq synonymousAArg [R]389
contig referenceGArg [R]389
24262087390 rs141492969 0.000byClusterbyFreq missenseAGln [Q]289
contig referenceGArg [R]289
24262088389 rs146189995 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTrp [W]189
contig referenceCArg [R]189
24262091386 rs768743174 0.000byClusterbyFreq missenseTCys [C]188
contig referenceCArg [R]188
24262101376 rs148048398 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTGly [G]384
contig referenceCGly [G]384
24262102375 rs748234923 0.000 missenseTVal [V]284
contig referenceGGly [G]284
24262105372 rs771051927 0.000byFreq missenseAGln [Q]283
contig referenceGArg [R]283
24262106371 rs774288859 0.000byClusterbyFreq missenseTTrp [W]183
contig referenceCArg [R]183
24262108369 rs141792428 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseTPhe [F]282
contig referenceCSer [S]282
24262114363 rs767307328 0.000byFreq missenseGArg [R]280
contig referenceCPro [P]280
24262119357 rs765131653 0.000 frame shiftGLys [K]279
contig reference-Arg [R]279
24262120357 rs775030916 0.000byFreq missenseAGln [Q]278
contig referenceGArg [R]278
24262121356 rs760429286 0.000byClusterbyFreq nonsenseT178
contig referenceCArg [R]178
24262127350 rs372349270 0.000byCluster missenseASer [S]176
contig referenceGGly [G]176
24262129348 rs753400612 0.000 missenseGCys [C]275
contig referenceCSer [S]275
24262130347 rs761252462 0.000 missenseGAla [A]175
contig referenceTSer [S]175
24262131346 rs200023674 0.000byClusterWith1000GenomeData0.0002 synonymousTSer [S]374
contig referenceCSer [S]374
24262132345 rs750901013 0.000 missenseTIle [I]274
contig referenceGSer [S]274
24262133344 rs565811853 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCArg [R]174
contig referenceASer [S]174
24262134343 rs780515334 0.000byFreq synonymousTSer [S]373
contig referenceCSer [S]373
24262137340 rs771277378 0.000byFreq synonymousAGly [G]372
contig referenceGGly [G]372
24262141336 rs374035643 0.000byClusterbyFreq missenseAGln [Q]271
contig referenceGArg [R]271
24262144333 rs781552476 0.000 missenseAAsp [D]270
contig referenceGGly [G]2