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dbSNP

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SNP linked to Gene (geneID:4534) 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): 10
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000252.2plus strandNP_000243.1forwardNT_011681.17GRCh38.p7<- currently shown
XM_017029551.1plus strandXP_016885040.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_017029550.1plus strandXP_016885039.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_017029549.1plus strandXP_016885038.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_017029548.1plus strandXP_016885037.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_017029547.1plus strandXP_016885036.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_011531173.2plus strandXP_011529475.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_011531172.1plus strandXP_011529474.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_011531171.1plus strandXP_011529473.1forwardNT_011681.17GRCh38.p7View snp on GeneModel
XM_005274687.2plus strandXP_005274744.1forwardNT_011681.17GRCh38.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_011681.17NM_000252.2NP_000243.1forwardplus strand348, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
15059262082 rs946865351 N.D. synonymousGAla [A]32
contig referenceTAla [A]32
15059263193 rs782665395 0.000 missenseAAsn [N]26
contig referenceCThr [T]26
150592646108 rs782293228 0.000byFreq missenseTLeu [L]211
contig referenceCSer [S]211
150592652114 rs144473998 0.000byClusterbyFreq YesmissenseTPhe [F]213
contig referenceCSer [S]213
150592665127 rs148455726 0.000byCluster YessynonymousAGlu [E]317
contig referenceGGlu [E]317
150592669131 rs1408923946 N.D. missenseCLeu [L]119
contig referenceAIle [I]119
150592673135 rs1172243532 N.D. missenseGArg [R]220
contig referenceALys [K]220
150596499141 rs781886721 0.000 missenseTMet [M]222
contig referenceCThr [T]222
150596500142 rs781793926 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousAThr [T]322
contig referenceGThr [T]322
150596500142 rs1312318763 N.D. frame shift-Ile [I]324
contig reference(13bp)Arg [R]324
150596505147 rs1381506126 N.D. missenseAGln [Q]224
contig referenceGArg [R]224
150596517159 rs782634894 0.000 missenseGSer [S]228
contig referenceAAsn [N]228
150596520162 rs782072494 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseAGln [Q]229
contig referenceGArg [R]229
150596536178 rs782465195 0.000 synonymousCAla [A]334
contig referenceTAla [A]334
150596544186 rs868992080 N.D. missenseAGln [Q]237
contig referenceGArg [R]237
150596560202 rs782801257 0.000byClusterWith1000GenomeData0.0003 synonymousGThr [T]342
contig referenceAThr [T]342
150596563205 rs782178520 0.000 synonymousTLeu [L]343
contig referenceALeu [L]343
150598593214 rs1464353667 N.D. synonymousTAsp [D]346
contig referenceCAsp [D]346
150598621242 rs1258893931 N.D. missenseGAsp [D]156
contig referenceAAsn [N]156
150598626247 rs782505553 0.001With1000GenomeData0.0003 synonymousAGly [G]357
contig referenceCGly [G]357
150598628249 rs374837228 0.000byCluster YesmissenseGArg [R]258
contig referenceCPro [P]258
150598630251 rs782451760 0.000byFreq missenseGVal [V]159
contig referenceAIle [I]159
150598631252 rs782217375 0.000byFreq missenseCThr [T]259
contig referenceTIle [I]259
150598636257 rs1317362167 N.D. missenseAArg [R]161
contig referenceGGly [G]161
150598661282 rs782277980 0.000byFreq missenseAHis [H]269
contig referenceGArg [R]269
150598678299 rs782557329 0.000byFreq synonymousCLeu [L]175
contig referenceTLeu [L]175
150598685306 rs782640338 0.000byFreq missenseTMet [M]277
contig referenceCThr [T]277
150614590309 rs782215492 0.001byClusterWith1000GenomeData0.0003 missenseTVal [V]278
contig referenceAAsp [D]278
150614608327 rs782102264 0.000 missenseTVal [V]284
contig referenceAAsp [D]284
150614615334 rs782702345 0.000byFreq synonymousCPro [P]386
contig referenceTPro [P]386
150614628347 rs781806828 0.000 missenseAThr [T]191
contig referenceTSer [S]191
150614629348 rs782148152 0.000byFreq missenseTLeu [L]291
contig referenceCSer [S]291
150614630349 rs1447559040 N.D. synonymousTSer [S]391
contig referenceGSer [S]391
150614635354 rs199821243 N.D.byCluster YesmissenseCThr [T]293
contig referenceTIle [I]293
150614642361 rs1292849674 N.D. synonymousGLys [K]395
contig referenceALys [K]395
150614644363 rs782820233 0.000 missenseGArg [R]296
contig referenceTMet [M]296
150614651370 rs781859151 0.000byFreq synonymousTGly [G]398
contig referenceCGly [G]398
150614652371 rs782527127 0.000 missenseAThr [T]199
contig referenceGAla [A]199
150614653372 rs145204414 0.000byClusterbyFreq YesmissenseTVal [V]299
contig referenceCAla [A]299
150614654373 rs781784303 0.000byFreq synonymousAAla [A]399
contig referenceGAla [A]399
150614688407 rs782449350 0.000 missenseGVal [V]1111
contig referenceAIle [I]1111
150614692411 rs782652121 0.000 missenseGSer [S]2112
missenseTIle [I]2112
contig referenceCThr [T]2112
150614696415 rs147644722 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousCCys [C]3113
contig referenceTCys [C]3113
150619058439 rs782776319 0.000byFreq synonymousTPhe [F]3121
contig referenceCPhe [F]3121
150619059440 rs1165846577 N.D. missenseCPro [P]1122
contig referenceGAla [A]1122
150619088469 rs781830040 0.000 synonymousGArg [R]3131
contig referenceAArg [R]3131
150619101482 rs782109971 0.000 missenseTPhe [F]1136
contig referenceAIle [I]1136
150619103484 rs781852283 0.000 synonymousTIle [I]3136
contig referenceCIle [I]3136
150619108489 rs374075654 N.D. YesmissenseTMet [M]2138
contig referenceCThr [T]2138
150619109490 rs781882033 0.000byFreq synonymousAThr [T]3138
contig referenceGThr [T]3138
150619111492 rs782547706 0.000 missenseALys [K]2139
contig referenceGArg [R]2139
150619117498 rs140642341 0.000byClusterbyFreqWith1000GenomeData0.0003 YesmissenseTVal [V]2141
contig referenceCAla [A]2141
150619118499 rs377311110 0.000byClusterbyFreq YessynonymousAAla [A]3141
contig referenceGAla [A]3141
150619121502 rs1443261976 N.D. synonymousCPhe [F]3142
contig referenceTPhe [F]3142
150619134515 rs964287315 N.D. missenseGGly [G]1147
contig referenceASer [S]1147
150619137518 rs782543844 N.D. missenseGVal [V]1148
contig referenceCLeu [L]1148
150638945523 rs782149231 0.000 synonymousGPro [P]3149
contig referenceAPro [P]3149
150638962540 rs1433526577 N.D. missenseGSer [S]2155
contig referenceAAsn [N]2155
150638964542 rs782709837 0.000 missenseALys [K]1156
contig referenceGGlu [E]1156
150638972550 rs781791352 0.000 missenseTAsn [N]3158
contig referenceGLys [K]3158
150638978556 rs782480422 0.000byFreq synonymousTAsn [N]3160
contig referenceCAsn [N]3160
150638979557 rs782744530 0.000 missenseAMet [M]1161
contig referenceGVal [V]1161
150638982560 rs781874330 0.000byFreq missenseAAsn [N]1162
contig referenceGAsp [D]1162
150638983561 rs782679553 0.000 missenseTVal [V]2162
contig referenceAAsp [D]2162
150638993571 rs1022385709 N.D. synonymousGThr [T]3165
contig referenceAThr [T]3165
150639006584 rs782274835 0.000byFreq missenseCLeu [L]1170
contig referenceGVal [V]1170
150641279615 rs781995404 0.000 missenseGSer [S]2180
contig referenceAAsn [N]2180
150641286622 rs782217349 0.000byClusterbyFreqWith1000GenomeData0.0003 synonymousCHis [H]3182
contig referenceTHis [H]3182
150641310646 rs782411810 0.000 synonymousALys [K]3190
contig referenceGLys [K]3190
150641322658 rs367912069 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTLeu [L]3194
contig referenceCLeu [L]3194
150641349685 rs782048392 0.000byFreq synonymousAVal [V]3203
contig referenceGVal [V]3203
150641355691 rs144517020 0.000byClusterbyFreq YessynonymousAPro [P]3205
contig referenceGPro [P]3205
150641359695 rs1470686963 N.D. missenseTCys [C]1207
contig referenceCArg [R]1207
150641360696 rs187357952 0.000byClusterbyFreqWith1000GenomeData0.0005 YesmissenseAHis [H]2207
contig referenceGArg [R]2207
150641362698 rs782127637 0.000byFreq missenseAThr [T]1208
contig referenceGAla [A]1208
150641376712 rs1196940940 N.D. synonymousTAsp [D]3212
contig referenceCAsp [D]3212
150641380716 rs782761570 0.000byClusterbyFreq missenseTTrp [W]1214
synonymousAArg [R]1214
contig referenceCArg [R]1214
150641381717 rs868921502 N.D.byCluster missenseAGln [Q]2214
contig referenceGArg [R]2214
150641384720 rs781904918 0.000 missenseTIle [I]2215
contig referenceGArg [R]2215
150641386722 rs782156492 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseAIle [I]1216
contig referenceGVal [V]1216
150641400736 rs151259542 0.000byCluster YessynonymousAArg [R]3220
contig referenceGArg [R]3220
150645704776 rs372053838 0.000byClusterbyFreq YesmissenseCGln [Q]1234
contig referenceGGlu [E]1234
150645706778 rs782210925 0.000 missenseCAsp [D]3234
contig referenceAGlu [E]3234
150645714786 rs375590163 0.000byCluster YesmissenseTMet [M]2237
contig referenceCThr [T]2237
150645715787 rs1162408107 N.D. synonymousAThr [T]3237
contig referenceGThr [T]3237
150645740812 rs781984239 0.000 missenseTPhe [F]1246
contig referenceCLeu [L]1246
150645745817 rs374360983 0.000byClusterbyFreq YessynonymousTVal [V]3247
contig referenceCVal [V]3247
150645746818 rs368335697 0.000byClusterbyFreq YesmissenseASer [S]1248
missenseTCys [C]1248
contig referenceGGly [G]1248
150645749821 rs372351233 0.000byCluster YesmissenseGVal [V]1249
contig referenceAMet [M]1249
150645759831 rs782740989 0.000byFreq missenseGArg [R]2252
contig referenceALys [K]2252
150645785857 rs781816016 0.000byFreq missenseGVal [V]1261
missenseTPhe [F]1261
contig referenceCLeu [L]1261
150645787859 rs187394611 0.000byClusterbyFreqWith1000GenomeData0.0003 YessynonymousTLeu [L]3261
contig referenceCLeu [L]3261
150645788860 rs781893456 0.000byFreq missenseAAsn [N]1262
contig referenceGAsp [D]1262
150645791863 rs140425194 0.000byClusterbyFreq YesmissenseAIle [I]1263
contig referenceGVal [V]1263
150645792864 rs782573475 0.000byFreq missenseGGly [G]2263
contig referenceTVal [V]2263
150645797869 rs201819359 0.000byClusterWith1000GenomeData0.0003 YesmissenseGGly [G]1265
contig referenceAArg [R]1265
150645804876 rs1264102271 N.D. missenseTIle [I]2267
contig referenceCThr [T]2267
150645814886 rs782474609 0.000 missenseCHis [H]3270
contig referenceAGln [Q]3270
150645817889 rs1224173755 N.D. synonymousCIle [I]3271
contig referenceTIle [I]3271
150645824896 rs782649925 0.000 missenseTPhe [F]1274
contig referenceCLeu [L]1274
150645834906 rs782238572 0.000 missenseGCys [C]2277
contig referenceATyr [Y]2277
150645850922 rs375301020 0.000 YessynonymousTSer [S]3282
contig referenceCSer [S]3282
150649733961 rs1017890631 N.D. synonymousCTyr [Y]3295
contig referenceTTyr [Y]3295
150649739967 rs1430447786 N.D. missenseGArg [R]3297
contig referenceTSer [S]3297
150649748976 rs782732432 0.000 synonymousGAla [A]3300
contig referenceAAla [A]3300
150649752980 rs781793723 0.000 missenseTTyr [Y]1302
contig referenceCHis [H]1302
150649757985 rs199984259 0.000byClusterWith1000GenomeData0.0003 YessynonymousTAsn [N]3303
contig referenceCAsn [N]3303
150649758986 rs782730135 0.000 missenseAThr [T]1304
contig referenceGAla [A]1304
150649759987 rs781871854 0.000 missenseTVal [V]2304
contig referenceCAla [A]2304
150649760988 rs782504569 0.000byFreq synonymousAAla [A]3304
synonymousTAla [A]3304
contig referenceCAla [A]3304
1506497791007 rs782444216 0.000 missenseGVal [V]1311
contig referenceAIle [I]1311
1506497931021 rs376178048 0.000byCluster YessynonymousCHis [H]3315
contig referenceTHis [H]3315
1506497981026 rs781843399 0.000byClusterWith1000GenomeData0.0003 missenseCThr [T]2317
contig referenceTMet [M]2317
1506498011029 rs782462553 0.000 missenseAGln [Q]2318
contig referenceGArg [R]2318
1506498111039 rs782645058 0.000 missenseTPhe [F]3321
contig referenceALeu [L]3321
1506498471075 rs782302438 0.000byFreq synonymousGGlu [E]3333
contig referenceAGlu [E]3333
1506498541082 rs782411443 0.000 missenseGAsp [D]1336
contig referenceCHis [H]1336
1506498731101 rs1224779396 N.D. missenseTVal [V]2342
contig referenceAGlu [E]2342
1506498741102 rs1327719020 N.D. synonymousAGlu [E]3342
contig referenceGGlu [E]3342
1506498781106 rs1278250269 N.D. missenseGAla [A]1344
contig referenceAThr [T]1344
1506498851113 rs781939560 0.000 nonsenseA2346
contig referenceGTrp [W]2346
1506498911119 rs965242993 N.D. missenseGGly [G]2348
contig referenceAGlu [E]2348
1506498971125 rs1414733649 N.D. missenseCThr [T]2350
contig referenceTIle [I]2350
1506499001128 rs150430628 0.000byClusterbyFreq YesmissenseGArg [R]2351
contig referenceALys [K]2351
1506578231132 rs1216921434 N.D. synonymousTLeu [L]3352
contig referenceCLeu [L]3352
1506578241133 rs782558893 0.000 missenseAIle [I]1353
contig referenceGVal [V]1353
1506578371146 rs782675333 0.000 missenseGGly [G]2357
contig referenceCAla [A]2357
1506578441153 rs1299457466 N.D. synonymousGGln [Q]3359
contig referenceAGln [Q]3359
1506578451154 rs1221069841 N.D. missenseAIle [I]1360
contig referenceGVal [V]1360
1506578471156 rs782202285 0.000byFreq synonymousGVal [V]3360
contig referenceAVal [V]3360
1506578641173 rs1304111944 N.D. missenseTLeu [L]2366
contig referenceCSer [S]2366
1506578701179 rs782438379 0.000 missenseGArg [R]2368
contig referenceALys [K]2368
1506578861195 rs941979306 N.D. synonymousAVal [V]3373
contig referenceGVal [V]3373
1506579161225 rs1036379651 N.D. synonymousCAla [A]3383
contig referenceTAla [A]3383
1506579191228 rs377687995 0.000byCluster YessynonymousAGln [Q]3384
contig referenceGGln [Q]3384
1506579461255 rs782211814 0.000 synonymousALeu [L]3393
contig referenceGLeu [L]3393
1506579551264 rs370366538 0.000byClusterbyFreq YessynonymousTPhe [F]3396
contig referenceCPhe [F]3396
1506579631272 rs782295697 0.000byFreq missenseAAsn [N]2399
contig referenceGSer [S]2399
1506579691278 rs1358278864 N.D. missenseCAla [A]2401
contig referenceAGlu [E]2401
1506579761285 rs782407568 0.000byFreq synonymousTPhe [F]3403
contig referenceCPhe [F]3403
1506579771286 rs781933660 0.000 missenseALys [K]1404
contig referenceGGlu [E]1404
1506579801289 rs373788741 0.000byClusterbyFreq YesmissenseGVal [V]1405
contig referenceAIle [I]1405
1506579821291 rs1395119615 N.D. missenseGMet [M]3405
contig referenceAIle [I]3405
1506579831292 rs1188510665 N.D. missenseGVal [V]1406
contig referenceCLeu [L]1406
1506579951304 rs17852824 N.D. YesmissenseALys [K]1410
contig referenceGGlu [E]1410
1506579981307 rs1448251098 N.D. missenseCArg [R]1411
contig referenceTTrp [W]1411
1506580171326 rs782733234 0.000byFreq missenseTIle [I]2417
contig referenceALys [K]2417
1506580221331 rs781950925 0.000 missenseAThr [T]1419
contig referenceGAla [A]1419
1506596931366 rs374725419 0.000byClusterbyFreq YessynonymousTThr [T]3430
contig referenceCThr [T]3430
1506597031376 rs782664128 0.000 missenseTCys [C]1434
contig referenceCArg [R]1434
1506597121385 rs368363225 0.000 YesmissenseGVal [V]1437
contig referenceAIle [I]1437
1506597141387 rs782199517 0.000 synonymousCIle [I]3437
contig referenceTIle [I]3437
1506597261399 rs782310799 0.000 synonymousCPhe [F]3441
contig referenceTPhe [F]3441
1506597331406 rs1375475868 N.D. missenseASer [S]1444
contig referenceTCys [C]1444
1506603741433 rs782468065 0.000byFreq missenseGAla [A]1453
contig referenceCPro [P]1453
1506603911450 rs1047941099 N.D. missenseALeu [L]3458
contig referenceCPhe [F]3458
1506603981457 rs782234944 0.000 missenseALys [K]1461
contig referenceCGln [Q]1461
1506604001459 rs782410861 0.000byFreq synonymousGGln [Q]3461
contig referenceAGln [Q]3461
1506604061465 rs145233301 0.000byClusterbyFreq YesmissenseTPhe [F]3463
contig referenceGLeu [L]3463
1506604221481 rs1327304427 N.D. missenseGAsp [D]1469
contig referenceCHis [H]1469
1506604271486 rs782184461 0.000 synonymousCLeu [L]3470
contig referenceGLeu [L]3470
1506604381497 rs782364557 0.000byFreq missenseAGln [Q]2474
contig referenceGArg [R]2474
1506604611520 rs187092837 0.000byClusterWith1000GenomeData0.0003 YesmissenseGGly [G]1482
contig referenceTCys [C]1482
1506604711530 rs782137551 0.001byClusterbyFreq missenseTVal [V]2485
contig referenceCAla [A]2485
1506604721531 rs141358705 0.000byClusterbyFreqWith1000GenomeData0.0005 YessynonymousCAla [A]3485
contig referenceTAla [A]3485
1506604741533 rs782032230 0.000 missenseAGln [Q]2486
contig referenceGArg [R]2486
1506604781537 rs1415011919 N.D. missenseTAsp [D]3487
contig referenceAGlu [E]3487
1506634331544 rs782354594 0.000 missenseGGlu [E]1490
contig referenceALys [K]1490
1506634341545 rs781948606 0.000byFreq missenseGArg [R]2490
contig referenceALys [K]2490
1506634401551 rs1401864234 N.D. missenseTIle [I]2492
contig referenceCThr [T]2492
1506634411552 rs969509547 N.D. synonymousGThr [T]3492
contig referenceAThr [T]3492
1506634421553 rs1002384686 N.D. missenseALys [K]1493
contig referenceGGlu [E]1493
1506634491560 rs782128516 0.000 missenseGSer [S]2495
contig referenceCThr [T]2495
1506634541565 rs782758280 0.000 missenseCPro [P]1497
contig referenceTSer [S]1497
1506634571568 rs1049505 N.D. YessynonymousCLeu [L]1498
contig referenceTLeu [L]1498
1506634581569 rs782029735 0.000 missenseCSer [S]2498
contig referenceTLeu [L]2498
1506634671578 rs1342299399 N.D. missenseAGln [Q]2501
contig referenceTLeu [L]2501
1506635111622 rs868972342 N.D.byCluster missenseGGlu [E]1516
contig referenceALys [K]1516
1506635251636 rs138946055 0.000byCluster YessynonymousCArg [R]3520
synonymousGArg [R]3520
contig referenceAArg [R]3520
1506635261637 rs782705509 0.000 missenseAIle [I]1521
contig referenceGVal [V]1521
1506635471658 rs781846543 0.000byFreq missenseTLeu [L]1528
contig referenceAMet [M]1528
1506635511662 rs782468721 0.000 missenseAHis [H]2529
contig referenceGArg [R]2529
1506635591670 rs983302980 N.D. missenseCGln [Q]1532
contig referenceGGlu [E]1532
1506635611672 rs782798100 0.000 missenseTAsp [D]3532
contig referenceAGlu [E]3532
1506635621673 rs868978574 N.D.byCluster missenseAIle [I]1533
contig referenceCLeu [L]1533
1506635821693 rs1399862379 N.D. synonymousCIle [I]3539
contig referenceTIle [I]3539
1506635941705 rs781856935 0.000 synonymousTPro [P]3543
contig referenceCPro [P]3543
1506635961707 rs782734371 N.D. missenseALys [K]2544
contig referenceGArg [R]2544
1506636011712 rs782556613 0.000 missenseGGlu [E]1546
contig referenceALys [K]1546
1506714311724 rs782006230 0.000byFreq missenseGAla [A]1550
contig referenceCPro [P]1550
1506714501743 rs372735301 0.000byCluster YesmissenseAHis [H]2556
contig referenceGArg [R]2556
1506714521745 rs782115195 0.000 missenseCHis [H]1557
contig referenceTTyr [Y]1557
1506714731766 rs782803138 0.000 missenseTCys [C]1564
contig referenceCArg [R]1564
1506714741767 rs781895025 0.000 missenseAHis [H]2564
contig referenceGArg [R]2564
1506714781771 rs140744506 0.000byClusterbyFreq YessynonymousTAsp [D]3565
contig referenceCAsp [D]3565
1506714911784 rs1320557351 N.D. missenseTTrp [W]1570
contig referenceCArg [R]1570
1506714921785 rs782469735 0.000 missenseAGln [Q]2570
contig referenceGArg [R]2570
1506714941787 rs143813478 0.000byCluster YesmissenseGVal [V]1571
contig referenceCLeu [L]1571
1506715051798 rs781846889 0.000 synonymousALeu [L]3574
contig referenceGLeu [L]3574
1506715071800 rs1347335331 N.D. missenseGArg [R]2575
contig referenceAGln [Q]2575
1506715111804 rs375031903 0.000byCluster synonymousALeu [L]3576
contig referenceCLeu [L]3576
1506715121805 rs148195763 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseAThr [T]1577
contig referenceGAla [A]1577
1506715231816 rs782365703 0.000 synonymousGAla [A]3580
contig referenceCAla [A]3580
1506715361829 rs1195705222 N.D. missenseGAla [A]1585
contig referenceCPro [P]1585
1506715391832 rs782482838 0.001byClusterWith1000GenomeData0.0003 missenseAThr [T]1586
missenseTSer [S]1586
contig referenceCPro [P]1586
1506715411834 rs1454805516 N.D. synonymousGPro [P]3586
contig referenceAPro [P]3586
1506715511844 rs782604912 0.000 missenseAThr [T]1590
contig referenceTSer [S]1590
1506715521845 rs782272996 0.000 missenseTPhe [F]2590
contig referenceCSer [S]2590
1506715611854 rs950958823 N.D. missenseTLeu [L]2593
contig referenceCSer [S]2593
1506715621855 rs782375296 0.000 synonymousASer [S]3593
contig referenceGSer [S]3593
1506715661859 rs367692513 0.000byCluster missenseGVal [V]1595
contig referenceAMet [M]1595
1506715691862 rs782144341 0.000 missenseCLeu [L]1596
contig referenceAMet [M]1596
1506715751868 rs34119065 N.D. frame shiftCPro [P]1598
contig reference-His [H]1598
1506715761869 rs201373390 0.000byClusterbyFreqWith1000GenomeData0.0003 missenseGArg [R]2598
contig referenceAHis [H]2598
1506715781871 rs1311369931 N.D. missenseAMet [M]1599
contig referenceGVal [V]1599
1506715871880 rs1300878676 N.D. missenseTTyr [Y]1602
contig referenceCHis [H]1602
1506715951888 rs983706084 N.D. CCys [C]3604
contig referenceA3604