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dbSNP

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SNP linked to Gene (geneID:7450) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000552.3minus strandNP_000543.2reverseNT_009759.17GRCh38.p7<- currently shown
NM_000552.4minus strandNP_000543.2reverseNT_009759.17GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_009759.17NM_000552.3NP_000543.2reverseminus strand42104, all

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
59488798828 rs1389417388 N.D. 3' UTRG
59488858822 rs1337920245 N.D. 3' UTRT
59488868821 rs760148394 N.D. 3' UTRC
59488878820 rs1021422365 N.D. 3' UTRG
59488908817 rs1466870282 N.D. 3' UTRG
59488958812 rs1259028118 N.D. 3' UTRA
59489048802 rs772296579 N.D. 3' UTRCA
59489068801 rs952367644 N.D. 3' UTRT
59489078800 rs550028909 0.000With1000GenomeData0.0002 3' UTRG
59489098798 rs966821736 N.D. 3' UTRA
59489108797 rs1319571721 N.D. 3' UTRT
59489128795 rs1171474010 N.D. 3' UTRG
59489138794 rs1478098445 N.D. 3' UTRA
59489158792 rs1201333431 N.D. 3' UTRG
59489278780 rs1379849638 N.D. 3' UTRC
59489288779 rs1180327510 N.D. 3' UTRT
59489378770 rs982643479 N.D. 3' UTRT
59489428765 rs1239176010 N.D. 3' UTRT
59489518756 rs1200989792 N.D. 3' UTRT
59489558752 rs908264437 N.D. 3' UTRG
59489578750 rs1442464602 N.D. 3' UTRG
59489648743 rs1260767631 N.D. 3' UTRA
3' UTRT
59489698738 rs753721365 0.000 3' UTRA
3' UTRC
3' UTRT
59489718736 rs757176138 0.000 3' UTRA
59489778730 rs778305533 0.000byFreq 3' UTRT
59489818726 rs749998649 0.000 3' UTRG
59489828725 rs1185152044 N.D. 3' UTRT
59489928715 rs1387354384 N.D. 3' UTRT
59489998708 rs1236812746 N.D. 3' UTRG
59490008699 rs756407077 0.000byFreq 3' UTR-
59490028705 rs1158538329 N.D. 3' UTRC
59490038704 rs778130772 0.000byClusterbyFreq 3' UTRT
59490068701 rs779918842 0.000 3' UTRA
59490098698 rs562968145 0.000With1000GenomeData0.0002 3' UTRT
59490108697 rs531959280 0.000With1000GenomeData0.0002 3' UTRT
59490158692 rs778161123 0.000 GTrp [W]32814
contig referenceA32814
59490188689 rs138263930 0.000byClusterbyFreq synonymousALys [K]32813
contig referenceGLys [K]32813
59490198688 rs1374246873 N.D. missenseGArg [R]22813
contig referenceALys [K]22813
59490228685 rs1222824162 N.D. missenseAAsn [N]22812
contig referenceGSer [S]22812
59490258682 rs771517718 0.000byFreq missenseATyr [Y]22811
contig referenceGCys [C]22811
59490288679 rs938017810 N.D. missenseGArg [R]22810
contig referenceALys [K]22810
59490338674 rs1207331220 N.D. synonymousTPro [P]32808
contig referenceCPro [P]32808
59490348673 rs774693533 0.000 missenseTLeu [L]22808
contig referenceCPro [P]22808
59490348672 rs1414503929 N.D. frame shiftTCCCLeu [L]12808
contig reference-Pro [P]12808
59490378670 rs990713039 N.D. missenseATyr [Y]22807
contig referenceCSer [S]22807
59490388669 rs1461682673 N.D. missenseCPro [P]12807
contig referenceTSer [S]12807
59490418666 rs267607372 N.D. untestedmissenseCArg [R]12806
contig referenceTCys [C]12806
59490438664 rs1403749521 N.D. missenseGArg [R]22805
contig referenceALys [K]22805
59490448662 rs267607371 N.D. untestedframe shiftTCCCCSer [S]32805
contig reference-Lys [K]32805
59490458662 rs1205378828 N.D. nonsenseA32804
contig referenceCCys [C]32804
59490468661 rs267607370 N.D.byCluster untestedmissenseATyr [Y]22804
contig referenceGCys [C]22804
59490558652 rs267607369 N.D.byCluster untestedmissenseAAsp [D]22801
missenseTVal [V]22801
contig referenceCAla [A]22801
59490618646 rs930440664 N.D. missenseGArg [R]22799
contig referenceTLeu [L]22799
59490628645 rs1439617045 N.D. missenseTPhe [F]12799
contig referenceCLeu [L]12799
59490668641 rs368635198 0.000byClusterbyFreq synonymousAGlu [E]32797
contig referenceGGlu [E]32797
59490728635 rs1180874457 N.D. synonymousTTyr [Y]32795
contig referenceCTyr [Y]32795
59490758632 rs3087517 N.D. synonymousTVal [V]32794
contig referenceGVal [V]32794
59490768631 rs772129534 0.000 missenseGGly [G]22794
contig referenceTVal [V]22794
59490778630 rs1047560782 N.D. missenseAMet [M]12794
contig referenceGVal [V]12794
59490798628 rs143743709 0.001byClusterbyFreqWith1000GenomeData0.0016 Uncertain significancemissenseCAla [A]22793
contig referenceTVal [V]22793
59490828625 rs1408905191 N.D. missenseTPhe [F]22792
contig referenceCSer [S]22792
59490918616 rs371036946 0.000byClusterbyFreq Uncertain significancemissenseAAsn [N]22789
missenseGSer [S]22789
missenseTIle [I]22789
contig referenceCThr [T]22789
59490968611 rs761486703 0.000byFreq synonymousTHis [H]32787
contig referenceCHis [H]32787
59490978610 rs765259491 0.000 missenseGArg [R]22787
missenseTLeu [L]22787
contig referenceAHis [H]22787
59490988609 rs1470571061 N.D. missenseTTyr [Y]12787
contig referenceCHis [H]12787
59491008607 rs1339157537 N.D. missenseGArg [R]22786
contig referenceTLeu [L]22786
59491018606 rs1353102739 N.D. missenseAMet [M]12786
contig referenceCLeu [L]12786
59491048603 rs1216075007 N.D. missenseTSer [S]12785
contig referenceGAla [A]12785
59491088599 rs1441108589 N.D. missenseCHis [H]32783
synonymousAGln [Q]32783
contig referenceGGln [Q]32783
59491108597 rs1298396777 N.D. nonsenseT12783
contig referenceCGln [Q]12783
59491128595 rs1172733830 N.D. missenseCThr [T]22782
contig referenceTMet [M]22782
59491138594 rs1375008704 N.D. missenseCLeu [L]12782
contig referenceAMet [M]12782
59491168591 rs61751313 N.D. untestedmissenseTSer [S]12781
contig referenceCPro [P]12781
59491198588 rs1309953703 N.D. missenseALys [K]12780
contig referenceGGlu [E]12780
59491208587 rs201741225 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]32779
contig referenceGThr [T]32779
59491218586 rs374314985 0.000byClusterbyFreq missenseTMet [M]22779
contig referenceCThr [T]22779
59491228585 rs765927433 0.000byFreq missenseGAla [A]12779
contig referenceAThr [T]12779
59491248583 rs150577615 0.000byClusterbyFreq missenseAGln [Q]22778
contig referenceGArg [R]22778
59491258582 rs368634026 0.000byClusterbyFreq missenseTTrp [W]12778
contig referenceCArg [R]12778
59491298578 rs780686569 0.000byFreq synonymousAPro [P]32776
contig referenceGPro [P]32776
59491308577 rs61751312 0.000byCluster untestedmissenseTLeu [L]22776
contig referenceCPro [P]22776
59491328575 rs138588762 0.001byClusterbyFreq synonymousCSer [S]32775
contig referenceTSer [S]32775
59491338574 rs376285757 0.000byClusterbyFreq missenseTPhe [F]22775
contig referenceCSer [S]22775
59491398568 rs61751311 N.D. untestedmissenseCSer [S]22773
contig referenceGCys [C]22773
59491408567 rs61751310 N.D.byCluster PathogenicmissenseCArg [R]12773
contig referenceTCys [C]12773
59491418566 rs61751309 N.D. untestedframe shift-Ala [A]32773
contig referenceCCys [C]32773
59491438564 rs1453219361 N.D. missenseCPro [P]12772
contig referenceTSer [S]12772
59491458562 rs61751308 N.D. untestedmissenseATyr [Y]22771
contig referenceGCys [C]22771
59491468561 rs61751307 N.D. untestedmissenseASer [S]12771
contig referenceTCys [C]12771
59491478560 rs746318855 0.000byFreq synonymousAGln [Q]32770
contig referenceGGln [Q]32770
59491528555 rs865914426 N.D. missenseTTyr [Y]12769
contig referenceGAsp [D]12769
59491548553 rs772146195 0.000 missenseGArg [R]22768
contig referenceAGln [Q]22768
59491578550 rs1481081229 N.D. missenseAGlu [E]22767
contig referenceTVal [V]22767
59491598548 rs1179201265 N.D. synonymousCAsp [D]32766
contig referenceTAsp [D]32766
59491618546 rs775506247 0.000 missenseAAsn [N]12766
contig referenceGAsp [D]12766
59491628545 rs573289245 0.000byClusterbyFreq synonymousTAsn [N]32765
contig referenceCAsn [N]32765
59491658542 rs1182600214 N.D. frame shift-Thr [T]32765
contig referenceCAsn [N]32765
59491688539 rs149309674 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousTAsp [D]32763
contig referenceCAsp [D]32763
59491728535 rs1355961536 N.D. missenseCThr [T]22762
contig referenceTIle [I]22762
59491818526 rs776681874 0.000byFreq missenseCThr [T]22759
contig referenceTMet [M]22759
59491828525 rs776211115 N.D. missenseGVal [V]12759
contig referenceAMet [M]12759
59491848523 rs144542595 0.000byClusterbyFreq missenseTVal [V]22758
contig referenceCAla [A]22758
59491858522 rs959332198 N.D. missenseAThr [T]12758
contig referenceGAla [A]12758
59491958512 rs61751306 N.D. untestedmissenseGTrp [W]32754
contig referenceTCys [C]32754
59491968511 rs1218734303 N.D. missenseATyr [Y]22754
contig referenceGCys [C]22754
59491998508 rs764927154 0.000 missenseTIle [I]22753
contig referenceALys [K]22753
59492018506 rs1319640188 N.D. synonymousAGly [G]32752
contig referenceCGly [G]32752
59492038504 rs1406175363 N.D. missenseASer [S]12752
contig referenceGGly [G]12752
5949210 rs1268359820 N.D. intron
5949212 rs1338615034 N.D. intron
5949221 rs778359331 0.000 intron
5949226 rs200274827 0.000byClusterbyFreqWith1000GenomeData0.0002 intron
5949230 rs1228730060 N.D. intron
5949231 rs762915738 0.000byFreq intron
5949232 rs982814575 N.D. intron
5949235 rs367665552 0.000byClusterbyFreq intron
5949236 rs1220515309 N.D. intron
5949237 rs79232084 0.005byClusterbyFreqWith1000GenomeData0.0072 intron
5949238 rs1490534724 N.D. intron
5949239 rs754415780 0.000 intron
5949244 rs1300520818 N.D. intron
5949248 rs1403639509 N.D. intron
5949264 rs951996034 N.D. intron
5949266 rs1257760099 N.D. intron
5949268 rs1165915095 N.D. intron
5949270 rs753944861 N.D.byCluster intron
5949274 rs983810903 N.D. intron
5949277 rs907689346 N.D. intron
5949278 rs965450543 N.D. intron
5949291 rs1417602443 N.D. intron
5949301 rs1170275475 N.D. intron
5949303 rs976494296 N.D. intron
5949309 rs535169620 N.D.byCluster intron
5949310 rs555426295 0.006byClusterbyFreqWith1000GenomeData0.0030 intron
5949317 rs932445729 N.D. intron
5949320 rs1487456292 N.D. intron
5949324 rs113233341 0.500byCluster intron
5949325 rs138510917 0.000With1000GenomeData0.0002 intron
5949326 rs1221988886 N.D. intron
5949333 rs1323315858 N.D. intron
5949337 rs1040076213 N.D. intron
5949343 rs1217648406 N.D. intron
5949345 rs1317911303 N.D. intron
5949355 rs1279540986 N.D. intron
5949356 rs576530553 0.001byFreqWith1000GenomeData0.0004 intron
5949362 rs371228807 N.D.byCluster intron
5949363 rs921697710 N.D. intron
5949367 rs1294675870 N.D. intron
5949368 rs539005687 0.000With1000GenomeData0.0002 intron
5949373 rs1353145033 N.D. intron
5949375 rs1330868549 N.D. intron
5949388 rs1466343133 N.D. intron
5949399 rs565767320 N.D.byCluster intron
5949402 rs372965649 N.D.byCluster intron
5949405 rs777181714 N.D. intron
5949411 rs558833820 0.000With1000GenomeData0.0002 intron
5949413 rs1174337457 N.D. intron
5949414 rs572508133 0.001byFreqWith1000GenomeData0.0004 intron
5949415 rs1190609428 N.D. intron
5949417 rs1424325376 N.D. intron
5949421 rs1191721812 N.D. intron
5949429 rs1489304197 N.D. intron
5949438 rs1236139254 N.D. intron
5949444 rs1197848557 N.D. intron
5949446 rs1457926175 N.D. intron
5949452 rs1299310075 N.D. intron
5949460 rs1207380618 N.D. intron
5949462 rs541127917 0.001byFreqWith1000GenomeData0.0006 intron
5949472 rs1311139129 N.D. intron
5949481 rs1302526318 N.D. intron
5949485 rs1053479911 N.D. intron
5949499 rs1375059474 N.D. intron
5949502 rs71581033 0.111byClusterbyFreqWith1000GenomeData0.0591 intron
5949507 rs1300942383 N.D. intron
5949510 rs1014696124 N.D. intron
5949513 rs1402686262 N.D. intron
5949523 rs1301350156 N.D. intron
5949545 rs1465564621 N.D. intron
5949559 rs35040508 N.D. intron
5949566 rs1331341835 N.D. intron
5949567 rs1234901856 N.D. intron
5949570 rs933408 0.230byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.1328 intron
5949571 rs71581032 N.D. intron
5949580 rs184446674 N.D.With1000GenomeData intron
5949581 rs1352297261 N.D. intron
5949587 rs1177754647 N.D. intron
5949588 rs1440129240 N.D. intron
5949593 rs905969633 N.D. intron
5949595 rs1240852015 N.D. intron
5949600 rs543735285 0.000With1000GenomeData0.0002 intron
5949608 rs892833078 N.D. intron
5949618 rs1482611612 N.D. intron
5949623 rs994941309 N.D. intron
5949631 rs1288056188 N.D. intron
5949634 rs1011149160 N.D. intron
5949646 rs200513875 N.D.byClusterWith1000GenomeData intron
5949647 rs886654290 N.D. intron
5949647 rs1489817134 N.D. intron
5949661 rs1005124905 N.D. intron
5949662 rs1170836810 N.D. intron
5949667 rs1209022346 N.D. intron
5949676 rs1043056447 N.D. intron
5949687 rs1019651723 N.D. intron
5949688 rs563624315 0.000With1000GenomeData0.0002 intron
5949700 rs976429523 N.D. intron
5949701 rs1358516348 N.D. intron
5949706 rs1158010495 N.D. intron
5949721 rs1028054691 N.D. intron
5949722 rs902657055 N.D. intron
5949731 rs766325122 N.D. intron
5949732 rs1256494040 N.D. intron
5949735 rs532052095 0.000With1000GenomeData0.0002 intron
5949737 rs752282832 0.000byFreq intron
5949738 rs189326726 0.002byClusterbyFreqWith1000GenomeData0.0010 intron
5949741 rs367630476 0.000byClusterbyFreq intron
5949747 rs2362482 0.146byClusterbyFreqwith2hitWith1000GenomeData0.1000 intron
5949749 rs1162543176 N.D. intron
5949754 rs2362483 0.146byClusterbyFreqwith2hitWith1000GenomeData0.1010 intron
5949755 rs116425274 0.004byClusterbyFreqWith1000GenomeData0.0060 intron
5949757 rs752979585 N.D. intron
5949758 rs1315559065 N.D. intron
5949763 rs372869480 0.000byCluster intron
5949766 rs983368004 N.D. intron
5949775 rs1431358145 N.D. intron
5949780 rs1271773474 N.D. intron
5949785 rs1380296813 N.D. donor
59497878502 rs1244883314 N.D. missenseGArg [R]22751
contig referenceAGln [Q]22751
59497908491 rs267607368 N.D. untested-32748
59497958494 rs1166947217 N.D. synonymousTHis [H]32748
contig referenceCHis [H]32748
59497968493 rs768614382 0.000 missenseGArg [R]22748
contig referenceAHis [H]22748
59497998490 rs1360376008 N.D. missenseCThr [T]22747
contig referenceTIle [I]22747
59498118478 rs776969304 0.000 missenseCAla [A]22743
contig referenceTVal [V]22743
59498128477 rs748259003 0.000byFreq missenseAIle [I]12743
contig referenceGVal [V]12743
59498198470 rs1398188060 N.D. synonymousALys [K]32740
contig referenceGLys [K]32740
59498208469 rs1416998754 N.D. missenseTMet [M]22740
contig referenceALys [K]22740
59498238466 rs61751305 0.000byCluster untestedmissenseATyr [Y]22739
contig referenceGCys [C]22739
59498348455 rs1194517258 N.D. synonymousALys [K]32735
contig referenceGLys [K]32735
59498378452 rs1339971429 N.D. synonymousGVal [V]32734
contig referenceCVal [V]32734
59498408449 rs1420460147 N.D. synonymousCTyr [Y]32733
contig referenceTTyr [Y]32733
59498418448 rs773094944 0.000 missenseGCys [C]22733
contig referenceATyr [Y]22733
59498448445 rs1443181806 N.D. missenseCPro [P]22732
contig referenceAGln [Q]22732
59498458437 rs267607367 N.D. untestedframe shift-Val [V]32730
contig reference(8bp)Arg [R]32730
59498498440 rs762820546 0.000 missenseCSer [S]32730
contig referenceGArg [R]32730
59498528437 rs375985267 0.000byClusterbyFreq synonymousGAla [A]32729
contig referenceCAla [A]32729
59498578432 rs199871749 0.000byClusterWith1000GenomeData0.0002 missenseTSer [S]12728
contig referenceAThr [T]12728
59498588431 rs1446048065 N.D. synonymousTIle [I]32727
contig referenceCIle [I]32727
59498608429 rs1161230702 N.D. missenseGVal [V]12727
contig referenceAIle [I]12727
59498638426 rs774426276 0.000 missenseAAsn [N]12726
contig referenceGAsp [D]12726
59498648425 rs759147832 0.000byFreq synonymousTAsn [N]32725
contig referenceCAsn [N]32725
59498658424 rs530699221 0.000With1000GenomeData0.0002 missenseGSer [S]22725
contig referenceAAsn [N]22725
59498728417 rs1476520970 N.D. missenseALys [K]12723
contig referenceGGlu [E]12723
59498758414 rs62641244 0.000byClusterbyFreq untestedmissenseGAla [A]12722
contig referenceCPro [P]12722
59498768413 rs1193830108 N.D. synonymousAGlu [E]32721
contig referenceGGlu [E]32721
59498788411 rs752402059 0.000byFreq missenseALys [K]12721
contig referenceGGlu [E]12721
59498798410 rs368802960 0.000byClusterbyFreq Uncertain significancesynonymousAGlu [E]32720
contig referenceGGlu [E]32720
59498818408 rs765610294 0.000 missenseALys [K]12720
contig referenceGGlu [E]12720
59498838406 rs1315438499 N.D. missenseTPhe [F]22719
contig referenceGCys [C]22719
5949886 rs1383868147 N.D. intron
5949887 rs1247247646 N.D. intron
5949888 rs750833186 0.000 intron
5949889 rs550925582 0.000byFreqWith1000GenomeData0.0002 intron
5949890 rs372577926 0.000byClusterbyFreq intron
5949891 rs1270602163 N.D. intron
5949897 rs1460341563 N.D. intron
5949899 rs374507722 0.000byClusterbyFreq intron
5949903 rs749711026 0.000 intron
5949903 rs1489031005 N.D. intron
5949905 rs376362177 0.000byCluster intron
5949909 rs781064800 0.000byFreq intron
5949919 rs748431712 0.000 intron
5949925 rs201747790 0.001byClusterbyFreqWith1000GenomeData0.0024 intron
5949931 rs778110595 0.000byFreq intron
5949932 rs1159742004 N.D. intron
5949946 rs1328108149 N.D. intron
5949949 rs749763779 N.D. intron
5949957 rs1321537828 N.D. intron
5949960 rs539310104 0.000With1000GenomeData0.0002 intron
5949965 rs902113097 N.D. intron
5949967 rs997814432 N.D. intron
5949973 rs1463726600 N.D. intron
5949976 rs945721815 N.D. intron
5949980 rs1457431220 N.D. intron
5949985 rs1367602919 N.D. intron
5949988 rs1179355904 N.D. intron
5949994 rs1042616231 N.D. intron
5950012 rs771442175 N.D. intron
5950013 rs1164658015 N.D. intron
5950016 rs953726705 N.D. intron
5950022 rs1434070529 N.D. intron
5950027 rs1369459719 N.D. intron
5950030 rs978504872 N.D. intron
5950031 rs1033200532 N.D. intron
5950038 rs750070068 N.D.byCluster intron
5950040 rs558921260 0.000With1000GenomeData0.0002 intron
5950044 rs1056645082 N.D. intron
5950046 rs895351872 N.D. intron
5950051 rs1272942538 N.D. intron
5950054 rs1232448157 N.D. intron
5950055 rs746522268 N.D. intron
5950056 rs1399096903 N.D. intron
5950070 rs1444362165 N.D. intron
5950087 rs1446985161 N.D. intron
5950089 rs565902947 0.000With1000GenomeData0.0002 intron
5950091 rs535141354 0.001byFreqWith1000GenomeData0.0006 intron
5950092 rs1028180280 N.D. intron
5950096 rs1379890422 N.D. intron
5950104 rs554623438 0.000With1000GenomeData0.0002 intron
5950111 rs1467000494 N.D. intron
5950117 rs557041759 N.D.byCluster intron
5950138 rs574093241 N.D. intron
5950160 rs760371463 N.D.byCluster intron
5950166 rs1439516358 N.D. intron
5950169 rs1238967179 N.D. intron
5950172 rs1184263185 N.D. intron
5950177 rs1342101780 N.D. intron
5950181 rs574569608 0.000byClusterWith1000GenomeData0.0002 intron
5950187 rs1257130429 N.D. intron
5950195 rs1277997211 N.D. intron
5950196 rs181319036 0.001byClusterbyFreqWith1000GenomeData0.0004 intron
5950198 rs753629482 N.D. intron
5950222 rs1049125112 N.D. intron
5950227 rs886551118 N.D. intron
5950238 rs966358644 N.D. intron
5950246 rs1237638833 N.D. intron
5950256 rs1375912127 N.D. intron
5950258 rs1309461396 N.D. intron
5950260 rs976009723 N.D. intron
5950262 rs1040946854 N.D. intron
5950266 rs1332917027 N.D. intron
5950277 rs1414593637 N.D. intron
5950289 rs902062007 N.D. intron
5950290 rs1157405255 N.D. intron
5950299 rs1419418181 N.D. intron
5950300 rs996422801 N.D. intron
5950301 rs1160719819 N.D. intron
5950310 rs1471923136 N.D. intron
5950314 rs559775368 N.D. intron
5950315 rs1237165427 N.D. intron
5950316 rs1028775035 N.D. intron
5950317 rs953241923 N.D. intron
5950320 rs1259469891 N.D. intron
5950322 rs12811229 0.002byClusterbyFreqWith1000GenomeData0.0012 intron
intron
5950326 rs1352631568 N.D. intron
5950331 rs914320215 N.D. intron
5950334 rs1426002206 N.D. intron
5950338 rs1284693680 N.D. intron
5950340 rs370679150 N.D.byCluster intron
5950340 rs1225310835 N.D. intron
5950342 rs977495275 N.D. intron
5950353 rs577468482 0.000With1000GenomeData0.0002 intron
5950354 rs1448075590 N.D. intron
5950355 rs928361121 N.D. intron
5950359 rs1010031400 N.D. intron
5950360 rs939576919 N.D. intron
5950361 rs546138427 0.000With1000GenomeData0.0002 intron
5950369 rs1320662579 N.D. intron
5950370 rs895300865 N.D. intron
5950383 rs948218553 N.D. intron
5950385 rs1164070121 N.D. intron
5950392 rs1049113518 N.D. intron
5950398 rs979983398 N.D. intron
5950399 rs7953373 0.085byClusterbyFreqWith1000GenomeData0.0447 intron
5950418 rs1242683481 N.D. intron
5950426 rs1465096140 N.D. intron
5950443 rs1449688058 N.D. intron
5950446 rs1288630033 N.D. intron
5950449 rs1233526430 N.D. intron
5950450 rs752638798 N.D.byCluster intron
5950453 rs528045342 0.000With1000GenomeData0.0002 intron
5950454 rs1015335745 N.D. intron
5950465 rs1291175411 N.D. intron
5950467 rs901884446 N.D. intron
5950473 rs1349681114 N.D. intron
5950476 rs907915497 N.D. intron
5950477 rs1404285986 N.D. intron
5950479 rs1380407949 N.D. intron
5950481 rs762785282 N.D. intron
5950486 rs1028889564 N.D. intron
5950488 rs1340863909 N.D. intron
5950497 rs141481676 N.D. intron
5950500 rs1170036401 N.D. intron
5950503 rs758550054 N.D. intron
5950504 rs1478214692 N.D. intron
5950511 rs1420097394 N.D. intron
5950532 rs953186514 N.D. intron
5950534 rs1219532477 N.D. intron
5950550 rs989950473 N.D. intron
5950553 rs7968888 0.272byClusterbyFreqWith1000GenomeData0.1623 intron
5950557 rs1310589962 N.D. intron
5950559 rs932162558 N.D. intron
5950560 rs561747913 0.000With1000GenomeData0.0002 intron
5950561 rs1469512865 N.D. intron
5950562 rs530763615 0.000With1000GenomeData0.0002 intron
5950573 rs1256599625 N.D. intron
5950578 rs999840511 N.D. intron
5950579 rs1484537430 N.D. intron
5950586 rs928278195 N.D. intron
5950588 rs1217984775 N.D. intron
5950598 rs938354371 N.D. intron
5950601 rs1304609646 N.D. intron
5950611 rs866745406 N.D.byCluster intron
5950612 rs759649324 N.D. intron
5950613 rs916845387 N.D. intron
5950621 rs372715152 N.D.byCluster intron
5950635 rs1356355724 N.D. intron
5950648 rs1174127852 N.D. intron
5950649 rs1478339227 N.D. intron
5950655 rs1195472338 N.D. intron
5950660 rs1422615554 N.D. intron
5950662 rs11390977 0.287byClusterbyFreqWith1000GenomeData0.1733 intron
5950662 rs1424429959 N.D. intron
5950663 rs948166606 N.D. intron
5950663 rs1220108206 N.D. intron
5950673 rs398055285 N.D. intron
5950673 rs1176184460 N.D. intron
5950675 rs550801239 0.000With1000GenomeData0.0002 intron
5950681 rs1252549884 N.D. intron
5950683 rs1049695840 N.D. intron
5950686 rs1207485255 N.D. intron
5950697 rs1010393278 N.D. intron
5950698 rs1281722098 N.D. intron
5950699 rs887990216 N.D. intron
5950700 rs1375178175 N.D. intron
5950706 rs186518358 N.D.With1000GenomeData intron
5950727 rs570517480 0.000With1000GenomeData0.0002 intron
5950728 rs1036477095 N.D. intron
5950731 rs533275302 0.002byFreqWith1000GenomeData0.0008 intron
5950735 rs1034199892 N.D. intron
5950739 rs997486718 N.D. intron
5950742 rs1374729463 N.D. intron
5950743 rs1174208285 N.D. intron
5950748 rs1300993987 N.D. intron
5950753 rs951968722 N.D. intron
5950754 rs546552757 0.000With1000GenomeData0.0002 intron
5950756 rs1157899253 N.D. intron
5950758 rs1050271830 N.D. intron
5950767 rs1419291476 N.D. intron
5950781 rs1218816027 N.D. intron
5950794 rs1252291495 N.D. intron
5950796 rs889035941 N.D. intron
5950809 rs1482663226 N.D. intron
5950831 rs984777002 N.D. intron
5950832 rs566094878 0.000With1000GenomeData0.0002 intron
5950838 rs189089432 0.000With1000GenomeData0.0002 intron
5950850 rs1238670918 N.D. intron
5950853 rs1240266119 N.D. intron
5950858 rs1021870725 N.D. intron
5950864 rs976555368 N.D. intron
5950866 rs78158784 0.010byClusterbyFreqWith1000GenomeData0.0050 intron
5950867 rs1227762508 N.D. intron
5950868 rs1356189929 N.D. intron
5950869 rs932110238 N.D. intron
5950872 rs1416541865 N.D. intron
5950891 rs998995132 N.D. intron
5950893 rs925485910 N.D. intron
5950896 rs57661704 0.272byClusterbyFreqWith1000GenomeData0.1623 intron
5950901 rs1365145945 N.D. intron
5950904 rs1052735885 N.D. intron
5950911 rs891451073 N.D. intron
5950914 rs1417959866 N.D. intron
5950921 rs945753658 N.D. intron
5950927 rs1426722656 N.D. intron
5950928 rs756426221 N.D. intron
5950931 rs778190082 N.D. intron
5950940 rs141675092 0.000byClusterWith1000GenomeData0.0002 intron
5950941 rs1380853244 N.D. intron
5950943 rs1263844387 N.D. intron
5950948 rs1244337425 N.D. intron
5950954 rs752906120 N.D. intron
5950954 rs1335811902 N.D. intron
5950958 rs991159493 N.D. intron
5950966 rs557142226 0.001byFreqWith1000GenomeData0.0004 intron
5950967 rs1001286340 N.D. intron
5950971 rs796118053 N.D. intron
5950976 rs887647923 N.D. intron
5950978 rs1006551144 N.D. intron
5950979 rs1386890156 N.D. intron
5950984 rs969623838 N.D. intron
5950985 rs1460578484 N.D. intron
5951002 rs57378434 0.272byClusterbyFreqWith1000GenomeData0.1625 intron
5951007 rs1294315939 N.D. intron
5951018 rs976124310 N.D. intron
5951021 rs1373358743 N.D. intron
5951022 rs757625952 N.D. intron
5951025 rs909357252 N.D. intron
5951026 rs1444649884 N.D. intron
5951036 rs181475953 0.000With1000GenomeData0.0002 intron
5951037 rs1030398369 N.D. intron
5951041 rs940892911 N.D. intron
5951044 rs1209681204 N.D. intron
5951047 rs746176824 N.D.byCluster intron
5951052 rs1275326160 N.D. intron
5951055 rs986262640 N.D. intron
5951061 rs1036831427 N.D. intron
5951065 rs56769453 0.272byClusterbyFreqWith1000GenomeData0.1623 intron
5951066 rs1321473843 N.D. intron
5951069 rs57048623 0.273byClusterbyFreqWith1000GenomeData0.1627 intron
5951072 rs398097966 N.D.byCluster intron
5951073 rs914187400 N.D. intron
5951079 rs760977474 N.D. intron
5951083 rs1439943377 N.D. intron
5951091 rs945672859 N.D. intron
5951110 rs1456128135 N.D. intron
5951114 rs746372272 N.D. intron
5951114 rs1395148115 N.D. intron
5951121 rs1168056097 N.D. intron
5951132 rs1463965414 N.D. intron
5951143 rs768147995 N.D. intron
5951152 rs889150221 N.D. intron
5951154 rs780714217 N.D. intron
5951156 rs1186917361 N.D. intron
5951166 rs937084904 N.D. intron
5951169 rs1177020566 N.D. intron
5951175 rs1437249165 N.D. intron
5951176 rs58935006 0.272byClusterbyFreqWith1000GenomeData0.1623 intron
5951187 rs1341347179 N.D. intron
5951191 rs190973291 0.000With1000GenomeData0.0002 intron
5951192 rs1161358187 N.D. intron
5951196 rs1412858480 N.D. intron
5951197 rs146206735 0.001byFreqWith1000GenomeData0.0004 intron
5951202 rs139172177 0.000With1000GenomeData0.0002 intron
5951202 rs1006084168 N.D. intron
5951204 rs1035402519 N.D. intron
5951210 rs959778471 N.D. intron
5951212 rs1392669038 N.D. intron
5951215 rs1030342790 N.D. intron
5951219 rs1173587838 N.D. intron
5951221 rs1435668181 N.D. intron
5951227 rs1397283346 N.D. intron
5951228 rs1157303361 N.D. intron
5951265 rs149933258 0.001byFreqWith1000GenomeData0.0006 intron
5951268 rs986210151 N.D. intron
5951271 rs1184028533 N.D. intron
5951273 rs564330340 0.000With1000GenomeData0.0002 intron
5951282 rs118158649 0.004byClusterbyFreqWith1000GenomeData0.0022 intron
5951284 rs1445054783 N.D. intron
5951289 rs1282931206 N.D. intron
5951290 rs952440423 N.D. intron
5951300 rs78753354 0.444byFreq intron
5951307 rs1378990074 N.D. intron
5951308 rs958434573 N.D. intron
5951311 rs1349467899 N.D. intron
5951312 rs1292401599 N.D. intron
5951313 rs143986363 0.001byFreqWith1000GenomeData0.0004 intron
5951314 rs560179395 0.000With1000GenomeData0.0002 intron
5951315 rs528513773 0.000With1000GenomeData0.0002 intron
5951316 rs548180311 0.001byFreqWith1000GenomeData0.0006 intron
5951320 rs1258184990 N.D. intron
5951331 rs972261096 N.D. intron
5951334 rs928301967 N.D. intron
5951335 rs923481593 N.D. intron
5951340 rs183913223 0.003byFreqWith1000GenomeData0.0016 intron
5951343 rs1471812695 N.D. intron
5951347 rs1236826455 N.D. intron
5951347 rs1473047114 N.D. intron
5951350 rs1183391610 N.D. intron
5951354 rs908978241 N.D. intron
5951355 rs772891330 N.D. intron
5951365 rs537161845 0.000byClusterWith1000GenomeData0.0002 intron
5951377 rs1446237063 N.D. intron
5951378 rs941836672 N.D. intron
5951397 rs1206535669 N.D. intron
5951401 rs1332316556 N.D. intron
5951410 rs1292120417 N.D. intron
5951413 rs1036202461 N.D. intron
5951420 rs185987333 N.D.With1000GenomeData intron
5951421 rs897700997 N.D. intron
5951422 rs1430379348 N.D. intron
5951439 rs1346158926 N.D. intron
5951443 rs1320765720 N.D. intron
5951448 rs550632373 0.002byFreqWith1000GenomeData0.0012 intron
5951449 rs571050662 0.000With1000GenomeData0.0002 intron
5951459 rs1051718679 N.D. intron
5951465 rs368046945 N.D. intron
5951473 rs934448013 N.D. intron
5951474 rs539627728 0.001byClusterbyFreqWith1000GenomeData0.0004 intron
5951487 rs1007594042 N.D. intron
5951497 rs1184722763 N.D. intron
5951500 rs895684030 N.D. intron
5951501 rs553666043 0.001byFreqWith1000GenomeData0.0004 intron
5951515 rs1195141896 N.D. intron
5951519 rs958166089 N.D. intron
5951524 rs1272184153 N.D. intron
5951531 rs1010108350 N.D. intron
5951538 rs1449338885 N.D. intron
5951541 rs1336317538 N.D. intron
5951548 rs573453235 0.000With1000GenomeData0.0002 intron
5951556 rs888086929 N.D. intron
5951558 rs527948131 N.D. intron
5951563 rs1005231306 N.D. intron
5951572 rs866177546 N.D. intron
5951577 rs1272266227 N.D. intron
5951581 rs1439213610 N.D. intron
5951588 rs982311416 N.D. intron
5951590 rs536118965 0.000With1000GenomeData0.0002 intron
5951593 rs1326854621 N.D. intron
5951602 rs1463028968 N.D. intron
5951617 rs762804764 N.D. intron
5951629 rs555420723 0.000With1000GenomeData0.0002 intron
5951632 rs926907193 N.D. intron
5951641 rs1198235749 N.D. intron
5951644 rs1420205284 N.D. intron
5951649 rs1169403300 N.D. intron
5951653 rs1452361622 N.D. intron
5951655 rs1277219909 N.D. intron
5951658 rs962318156 N.D. intron
5951660 rs1193880873 N.D. intron
5951665 rs1469585265 N.D. intron
5951668 rs571226656 N.D.byCluster intron
5951672 rs1260826197 N.D. intron
5951673 rs190844704 0.001byFreqWith1000GenomeData0.0006 intron
5951678 rs1193302902 N.D. intron
5951689 rs1036553358 N.D. intron
5951693 rs770691117 N.D. intron
5951701 rs1424614811 N.D. intron
5951705 rs548071412 0.001byClusterbyFreqWith1000GenomeData0.0004 intron
5951706 rs183217819 0.000byClusterWith1000GenomeData0.0002 intron
5951709 rs1443374379 N.D. intron
5951711 rs1371528225 N.D. intron
5951712 rs1051668595 N.D. intron
5951720 rs1443077588 N.D. intron
5951728 rs1355002137 N.D. intron
5951734 rs1172457577 N.D. intron
5951735 rs1424504237 N.D. intron
5951746 rs889049418 N.D. intron
5951748 rs1174090405 N.D. intron
5951749 rs1315322690 N.D. intron
5951750 rs1405392298 N.D. intron
5951751 rs577810234 0.000With1000GenomeData0.0002 intron
5951759 rs1007541577 N.D. intron
5951774 rs1053792427 N.D. intron
5951781 rs1480686886 N.D. intron
5951782 rs947343611 N.D. intron
5951783 rs978785716 N.D. intron
5951789 rs924643278 N.D. intron
5951793 rs540052111 0.000With1000GenomeData0.0002 intron
5951794 rs2270151 0.234byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.1168 Benign intron
5951799 rs1021481290 N.D. intron
5951800 rs774364129 0.000 intron
5951809 rs1408028608 N.D. intron
5951810 rs759328426 0.000byFreq intron
5951811 rs529159880 0.000With1000GenomeData0.0002 intron
5951818 rs548831251 0.000byFreqWith1000GenomeData0.0002 intron
5951822 rs771644323 0.000byFreq intron
5951826 rs760153152 0.000 intron
5951828 rs561767704 0.000byFreqWith1000GenomeData0.0002 intron
5951835 rs1306604005 N.D. intron
5951836 rs886049735 N.D.byCluster Uncertain significanceintron
5951838 rs1223422347 N.D. intron
5951841 rs61751304 N.D.byCluster untestedintron
59518488401 rs753482100 0.000 synonymousTAsp [D]32717
contig referenceCAsp [D]32717
59518488401 rs1264216385 N.D. frame shift-Glu [E]32717
contig referenceCAsp [D]32717
59518498400 rs1375621314 N.D. missenseGGly [G]22717
contig referenceAAsp [D]22717
59518508399 rs1194377444 N.D. missenseAAsn [N]12717
contig referenceGAsp [D]12717
59518528397 rs1249405500 N.D. missenseATyr [Y]22716
contig referenceGCys [C]22716
59518538396 rs763365172 0.000 missenseCArg [R]12716
contig referenceTCys [C]12716
59518548395 rs1183778615 N.D. synonymousTCys [C]32715
contig referenceCCys [C]32715
59518608389 rs1266137682 N.D. synonymousTGly [G]32713
contig referenceCGly [G]32713
59518708379 rs766672651 0.000byFreq missenseGArg [R]22710
contig referenceALys [K]22710
59518748375 rs1361042571 N.D. missenseTLeu [L]12709
contig referenceAMet [M]12709
5951884 rs112369456 N.D. acceptor
5951887 rs774903787 0.000 intron
5951889 rs1374825942 N.D. intron
5951895 rs1431275793 N.D. intron
5951898 rs1460296329 N.D. intron
5951901 rs1167068351 N.D. intron
5951903 rs2270152 0.314byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.1623 Benign intron
5951906 rs1392155355 N.D. intron
5951911 rs372238216 0.000byCluster intron
5951912 rs755398172 0.000 intron
5951913 rs1343709443 N.D. intron
5951919 rs1404336101 N.D. intron
5951926 rs369576215 0.000byClusterbyFreq intron
5951928 rs752761443 0.000byFreq intron
5951929 rs1419082276 N.D. intron
5951935 rs1225735704 N.D. intron
5951941 rs1409528106 N.D. intron
5951949 rs1185238953 N.D. intron
5951950 rs148696309 0.008byClusterbyFreqWith1000GenomeData0.0038 intron
5951951 rs71581031 N.D.byCluster intron
5951952 rs1217084839 N.D. intron
5951954 rs1485112334 N.D. intron
5951968 rs570845900 0.000With1000GenomeData0.0002 intron
5951969 rs540070182 0.000With1000GenomeData0.0002 intron
5951976 rs757077686 N.D.byCluster intron
5951979 rs546890083 0.000With1000GenomeData0.0002 intron
5951981 rs1196981318 N.D. intron
5951983 rs1246246364 N.D. intron
5951990 rs896843155 N.D. intron
5951991 rs993694796 N.D. intron
5952007 rs1030561308 N.D. intron
5952026 rs933111730 N.D. intron
5952027 rs954849775 N.D. intron
5952034 rs1176151581 N.D. intron
5952045 rs1390449980 N.D. intron
5952048 rs1379005778 N.D. intron
5952052 rs1419568739 N.D. intron
5952053 rs144479790 0.000With1000GenomeData0.0002 intron
5952054 rs1419155001 N.D. intron
5952057 rs1190223188 N.D. intron
5952065 rs1427323736 N.D. intron
5952076 rs1187518266 N.D. intron
5952082 rs987320996 N.D. intron
5952087 rs536180583 0.000With1000GenomeData0.0002 intron
5952088 rs556075991 0.000With1000GenomeData0.0002 intron
5952095 rs1335563484 N.D. intron
5952096 rs1018064051 N.D. intron
5952098 rs568906096 0.000With1000GenomeData0.0002 intron
5952108 rs537831106 0.001byFreqWith1000GenomeData0.0004 intron
5952112 rs1384768565 N.D. intron
5952114 rs557882716 0.000With1000GenomeData0.0002 intron
5952120 rs1382614290 N.D. intron
5952123 rs1331249072 N.D. intron
5952127 rs1366870641 N.D. intron
5952138 rs943273948 N.D. intron
5952140 rs1439451868 N.D. intron
5952150 rs1306386728 N.D. intron
5952157 rs968826865 N.D. intron
5952175 rs7961998 0.086byClusterbyFreqWith1000GenomeData0.0451 intron
5952177 rs1373048344 N.D. intron
5952184 rs76236422 0.012byClusterbyFreqWith1000GenomeData0.0060 intron
5952192 rs1451742456 N.D. intron
5952198 rs934671019 N.D. intron
5952199 rs1353960051 N.D. intron
5952205 rs1208342816 N.D. intron
5952207 rs1254952751 N.D. intron
5952217 rs992720575 N.D. intron
5952228 rs1266933475 N.D. intron
5952233 rs1469022845 N.D. intron
5952234 rs536646052 N.D.byCluster intron
5952238 rs948501549 N.D. intron
5952240 rs1250724381 N.D. intron
5952245 rs1227830750 N.D. intron
5952248 rs1195591563 N.D. intron
5952249 rs1044233992 N.D. intron
5952254 rs1236378863 N.D. intron
5952263 rs1439654297 N.D. intron
5952280 rs1179789118 N.D. intron
5952281 rs1324915823 N.D. intron
5952289 rs909741594 N.D. intron
5952299 rs1396341078 N.D. intron
5952309 rs1367843953 N.D. intron
5952310 rs372909801 0.001byClusterbyFreqWith1000GenomeData0.0004 intron
5952312 rs1037213409 N.D. intron
5952317 rs895350586 N.D. intron
5952323 rs896796438 N.D. intron
5952324 rs573474069 0.008byFreqWith1000GenomeData0.0038 intron
5952325 rs2286646 0.272byClusterbyFreqwith2hitWith1000GenomeData0.1625 intron
5952332 rs1437342918 N.D. intron
5952339 rs1249666702 N.D. intron
5952343 rs200629790 0.001byClusterbyFreqWith1000GenomeData0.0012 intron
5952348 rs1339731424 N.D. intron
5952350 rs200007889 0.000byClusterbyFreqWith1000GenomeData0.0002 intron
5952354 rs770857995 0.000byFreq intron
5952355 rs1233339525 N.D. intron
5952359 rs147885253 0.000byClusterWith1000GenomeData0.0002 intron
5952361 rs199783423 0.000byClusterbyFreq intron
5952365 rs377745527 0.000byClusterbyFreqWith1000GenomeData0.0002 intron
5952375 rs1243005832 N.D. intron
5952378 rs533284114 0.000byFreqWith1000GenomeData0.0002 intron
5952379 rs746584433 0.000 intron
5952381 rs1373414414 N.D. intron
5952387 rs768136976 0.000byFreq intron
5952389 rs113731881 N.D.byCluster donor
59523938363 rs7962217 0.112byClusterbyFreqWith1000GenomeData0.0447 Likely benignmissenseAArg [R]12705
missenseAArg [R]12705
contig referenceGGly [G]12705
contig referenceGGly [G]12705
59524018355 rs1307171312 N.D. missenseCPro [P]22702
contig referenceTLeu [L]22702
59524068350 rs761387678 0.000 synonymousALys [K]32700
contig referenceGLys [K]32700
59524098347 rs1424122226 N.D. missenseAGln [Q]32699
contig referenceCHis [H]32699
59524108346 rs886049736 N.D. Uncertain significancemissenseGArg [R]22699
contig referenceAHis [H]22699
59524128344 rs144030544 0.000byClusterbyFreq synonymousGGlu [E]32698
contig referenceAGlu [E]32698
59524138343 rs1370409927 N.D. missenseCAla [A]22698
contig referenceAGlu [E]22698
59524148342 rs1480797105 N.D. missenseALys [K]12698
contig referenceGGlu [E]12698
59524158341 rs1381011008 N.D. missenseAGlu [E]32697
contig referenceTAsp [D]32697
59524198337 rs774529699 0.000byFreq missenseCSer [S]22696
contig referenceTPhe [F]22696
59524218335 rs759914522 0.000 synonymousTPro [P]32695
contig referenceCPro [P]32695
59524228334 rs76459136 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGArg [R]22695
missenseTLeu [L]22695
contig referenceCPro [P]22695
59524278329 rs41276732 0.003byClusterbyFreqWith1000GenomeData0.0002 synonymousTCys [C]32693
contig referenceCCys [C]32693
59524288328 rs62641243 N.D. untestedmissenseATyr [Y]22693
contig referenceGCys [C]22693
59524348322 rs1358240846 N.D. missenseTIle [I]22691
contig referenceCThr [T]22691
59524368320 rs764207234 0.000 synonymousTVal [V]32690
contig referenceCVal [V]32690
59524388318 rs200389567 0.000byClusterWith1000GenomeData0.0002 missenseTPhe [F]12690
contig referenceGVal [V]12690
59524398317 rs569569052 0.000With1000GenomeData0.0002 synonymousAArg [R]32689
contig referenceGArg [R]32689
59524498307 rs1484884716 N.D. missenseTLeu [L]22686
contig referenceGTrp [W]22686
59524588298 rs144511926 0.000byCluster missenseGGly [G]22683
contig referenceAGlu [E]22683
59524618295 rs538486039 0.000With1000GenomeData0.0002 missenseAGlu [E]22682
contig referenceGGly [G]22682
59524668290 rs1157064128 N.D. missenseCAsp [D]32680
contig referenceGGlu [E]32680
59524708286 rs151129435 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseGSer [S]22679
contig referenceAAsn [N]22679
59524718285 rs377514450 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGAsp [D]12679
contig referenceAAsn [N]12679
59524728284 rs1383648930 N.D. synonymousTVal [V]32678
contig referenceCVal [V]32678
59524848272 rs1444201656 N.D. missenseAGln [Q]32674
contig referenceCHis [H]32674
59524888268 rs1428401301 N.D. missenseTIle [I]22673
contig referenceCThr [T]22673
59524908266 rs1184494543 N.D. synonymousCAsp [D]32672
contig referenceTAsp [D]32672
59524948262 rs61751303 N.D. untestedmissenseATyr [Y]22671
contig referenceGCys [C]22671
59524968260 rs779909907 0.000 synonymousTGly [G]32670
contig referenceCGly [G]32670
59524988258 rs746890802 0.000byClusterbyFreq missenseASer [S]12670
contig referenceGGly [G]12670
59525018255 rs1451640262 N.D. missenseAAsn [N]12669
contig referenceGAsp [D]12669
59525058251 rs768159245 0.000 synonymousTLeu [L]32667
contig referenceCLeu [L]32667
59525088248 rs201890452 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]32666
contig referenceGThr [T]32666
59525098247 rs78353028 0.012byClusterbyFreqWith1000GenomeData0.0216 Likely benignmissenseTMet [M]22666
contig referenceCThr [T]22666
59525158241 rs1313337406 N.D. missenseCAla [A]22664
contig referenceAAsp [D]22664
59525168240 rs906594101 N.D. missenseAAsn [N]12664
contig referenceGAsp [D]12664
59525188238 rs149834874 0.003byClusterbyFreqWith1000GenomeData0.0010 Uncertain significancemissenseAHis [H]22663
missenseCPro [P]22663
missenseTLeu [L]22663
contig referenceGArg [R]22663
59525198237 rs370662678 0.000byClusterbyFreq missenseTCys [C]12663
contig referenceCArg [R]12663
5952522 rs1314332925 N.D. intron
5952523 rs1267355130 N.D. intron
5952531 rs1349580301 N.D. intron
5952532 rs375747195 0.000byClusterbyFreq intron
5952538 rs776149665 0.000byFreq intron
5952539 rs761227752 0.000 intron
5952540 rs764294949 0.000byFreq intron
5952542 rs1036753116 N.D. intron
5952543 rs754023906 0.000byFreq intron
5952546 rs1461093565 N.D. intron
5952552 rs1182669745 N.D. intron
5952553 rs386759861 N.D. intron
5952557 rs757325607 0.000byFreq intron
5952558 rs1417427477 N.D. intron
5952561 rs1158431529 N.D. intron
5952571 rs542401832 0.000With1000GenomeData0.0002 intron
5952578 rs556082780 0.000With1000GenomeData0.0002 intron
5952579 rs777392958 N.D. intron
5952590 rs933616258 N.D.