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SNP linked to Gene (geneID:5578) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_002737.2plus strandNP_002728.1forwardNT_010783.16GRCh38.p2<- currently shown
XM_011524992.1plus strandXP_011523294.1forwardNT_010783.16GRCh38.p2View snp on GeneModel
XM_011524991.1plus strandXP_011523293.1forwardNT_010783.16GRCh38.p2View snp on GeneModel
XM_011524990.1plus strandXP_011523292.1forwardNT_010783.16GRCh38.p2View snp on GeneModel
XM_011524989.1plus strandXP_011523291.1forwardNT_010783.16GRCh38.p2View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_010783.16NM_002737.2NP_002728.1forwardplus strand300, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
6630286154 rs571827499 N.D. missenseAIle [I]14
contig referenceGVal [V]14
6630286356 rs767049910 0.000byFreq synonymousCVal [V]34
synonymousGVal [V]34
contig referenceTVal [V]34
6630286659 rs200234041 0.002 YessynonymousTPhe [F]35
contig referenceCPhe [F]35
6630287164 rs761243704 0.000 missenseAAsp [D]27
contig referenceGGly [G]27
6630287467 rs201024698 0.000byClusterWith1000GenomeData0.0002 YesmissenseGSer [S]28
contig referenceAAsn [N]28
6630287669 rs754430626 0.000 missenseTTyr [Y]19
contig referenceGAsp [D]19
6630288477 rs376985598 N.D.byCluster YessynonymousTThr [T]311
contig referenceGThr [T]311
6630288780 rs757577723 0.000byFreq synonymousAAla [A]312
synonymousCAla [A]312
contig referenceGAla [A]312
6630289386 rs12944151 N.D. YesmissenseTHis [H]314
contig referenceGGln [Q]314
6630289689 rs370194402 0.000byCluster YesmissenseAGlu [E]315
contig referenceCAsp [D]315
6630289790 rs758584716 0.000 missenseCLeu [L]116
contig referenceGVal [V]116
6630289992 rs780083199 0.000byFreq synonymousCVal [V]316
contig referenceGVal [V]316
6630290194 rs747039638 0.000byFreq missenseTVal [V]217
contig referenceCAla [A]217
6630290497 rs755078848 0.000 missenseGSer [S]218
contig referenceAAsn [N]218
6630290598 rs542395606 0.000byCluster missenseALys [K]318
missenseGLys [K]318
contig referenceCAsn [N]318
66302945138 rs527574267 N.D. missenseAAsn [N]132
contig referenceCHis [H]132
66302947140 rs749195097 0.000byFreq missenseAGln [Q]332
synonymousTHis [H]332
contig referenceCHis [H]332
66302950143 rs778640727 0.000 synonymousAGlu [E]333
contig referenceGGlu [E]333
66302980173 rs745502789 0.000byFreq synonymousTPhe [F]343
contig referenceCPhe [F]343
66302985178 rs200801878 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGArg [R]245
contig referenceALys [K]245
66302995188 rs775305804 0.000 synonymousGThr [T]348
contig referenceCThr [T]348
66303000193 rs760225427 0.000 missenseCSer [S]250
contig referenceGCys [C]250
66303006199 rs768288690 0.000 missenseGArg [R]252
contig referenceAHis [H]252
66303013206 rs576353595 0.000With1000GenomeData0.0002 synonymousTThr [T]354
contig referenceCThr [T]354
66303018211 rs751044895 0.000 -257
66306105227 rs773777054 0.000 synonymousAGly [G]361
contig referenceGGly [G]361
66306117239 rs763265613 0.000 synonymousTPhe [F]365
contig referenceCPhe [F]365
66306126248 rs376921936 N.D. YesmissenseTHis [H]368
contig referenceAGln [Q]368
66496232281 rs759740185 0.000 synonymousCHis [H]379
contig referenceTHis [H]379
66496241290 rs183900316 0.000byClusterWith1000GenomeData0.0002 YessynonymousAVal [V]382
contig referenceTVal [V]382
66496256305 rs145160680 0.000 YessynonymousTPro [P]387
contig referenceGPro [P]387
66496262311 rs775784706 0.000 synonymousAAla [A]389
contig referenceGAla [A]389
66496268317 rs760628881 0.000byFreq synonymousALys [K]391
contig referenceGLys [K]391
66496271320 rs764254597 0.000 synonymousCGly [G]392
contig referenceAGly [G]392
66496274323 rs750302415 0.000byFreq synonymousTPro [P]393
contig referenceCPro [P]393
66496275324 rs758445868 0.000byFreq missenseAAsn [N]194
contig referenceGAsp [D]194
66496278327 rs766268531 0.000 missenseTSer [S]195
contig referenceAThr [T]195
66496283332 rs375714097 0.000byCluster YessynonymousCAsp [D]396
contig referenceTAsp [D]396
66641356334 rs780188872 0.000 frame shift(7bp)Glu [E]297
contig reference-Asp [D]297
66641363341 rs758786156 N.D. synonymousAArg [R]399
contig referenceGArg [R]399
66641365343 rs762002113 0.000 missenseAAsn [N]2100
contig referenceGSer [S]2100
66641368346 rs766356302 0.000 missenseGArg [R]2101
contig referenceALys [K]2101
66641382360 rs201729185 0.002 YesmissenseGVal [V]1106
contig referenceAIle [I]1106
66641387365 rs751581813 0.000 synonymousTHis [H]3107
contig referenceCHis [H]3107
66641393371 rs759205947 0.000byFreq synonymousTTyr [Y]3109
contig referenceCTyr [Y]3109
66641402380 rs367830317 0.000byClusterbyFreq YessynonymousTPro [P]3112
contig referenceCPro [P]3112
66641403381 rs752262521 0.000byFreq missenseGAla [A]1113
contig referenceAThr [T]1113
66641405383 rs755864352 0.000 synonymousTThr [T]3113
contig referenceCThr [T]3113
66641411389 rs371359925 0.000byClusterbyFreq YessynonymousTCys [C]3115
contig referenceCCys [C]3115
66641431409 rs201664310 0.000byClusterWith1000GenomeData0.0002 YesmissenseAHis [H]2122
contig referenceTLeu [L]2122
66641445423 rs753287547 0.000 missenseTTyr [Y]1127
contig referenceCHis [H]1127
66641453431 rs61762396 0.006byClusterbyFreqWith1000GenomeData0.0032 YessynonymousAGly [G]3129
contig referenceGGly [G]3129
66645387449 rs748433014 0.000byFreq synonymousTCys [C]3135
contig referenceCCys [C]3135
66645390452 rs769965563 0.000byFreq synonymousCAsp [D]3136
contig referenceTAsp [D]3136
66645391453 rs773494079 0.000 missenseGVal [V]1137
contig referenceAMet [M]1137
66645394456 rs759379662 0.000 missenseGAsp [D]1138
contig referenceAAsn [N]1138
66645396458 rs766036917 N.D. synonymousTAsn [N]3138
contig referenceCAsn [N]3138
66645397459 rs771987815 0.000byFreq missenseAIle [I]1139
contig referenceGVal [V]1139
66645404466 rs775294696 0.000byFreq missenseGArg [R]2141
contig referenceALys [K]2141
66645405467 rs760478437 0.000 missenseCAsn [N]3141
contig referenceGLys [K]3141
66645408470 rs762350122 0.000byFreq synonymousGGln [Q]3142
contig referenceAGln [Q]3142
66645411473 rs149096693 0.000 YessynonymousTCys [C]3143
contig referenceCCys [C]3143
66645412474 rs776243082 0.000 missenseAIle [I]1144
contig referenceGVal [V]1144
66645416478 rs761489847 0.000 missenseAAsn [N]2145
contig referenceTIle [I]2145
66645417479 rs376472217 0.000byCluster YesmissenseGMet [M]3145
contig referenceCIle [I]3145
66645419481 rs750003387 0.000 missenseGSer [S]2146
contig referenceAAsn [N]2146
66645420482 rs757856798 0.000 synonymousCAsn [N]3146
contig referenceTAsn [N]3146
66645426488 rs558914877 0.000With1000GenomeData0.0002 synonymousAPro [P]3148
contig referenceCPro [P]3148
66645429491 rs752033472 0.000 missenseGArg [R]3149
contig referenceCSer [S]3149
66645435497 rs200672316 0.002byCluster YessynonymousTCys [C]3151
contig referenceCCys [C]3151
66645436498 rs781720378 0.000byFreq missenseAArg [R]1152
contig referenceGGly [G]1152
66645465527 rs748379738 0.000byFreq synonymousAArg [R]3161
contig referenceGArg [R]3161
66645466528 rs372542565 N.D. YesmissenseGVal [V]1162
contig referenceAIle [I]1162
66645474536 rs756463027 0.000 synonymousGLeu [L]3164
contig referenceALeu [L]3164
66645477539 rs778155542 0.000 missenseTAsn [N]3165
contig referenceGLys [K]3165
66645478540 rs749323079 0.000 missenseAThr [T]1166
contig referenceGAla [A]1166
66645503565 rs376898012 0.000byCluster YesmissenseTLeu [L]2174
contig referenceAHis [H]2174
66645504566 rs775447663 0.000 synonymousCHis [H]3174
contig referenceTHis [H]3174
66687114577 rs151214307 0.000 YesmissenseAGln [Q]2178
contig referenceGArg [R]2178
66687121584 rs773101122 0.000byFreq frame shift-Ile [I]3182
contig referenceAAsn [N]3182
66687125588 rs776863583 0.000byClusterbyFreq missenseTTyr [Y]1182
contig referenceAAsn [N]1182
66687129592 rs778898336 0.000 missenseGArg [R]2183
contig referenceTLeu [L]2183
66687137600 rs200732611 0.000byClusterbyFreq YesmissenseGVal [V]1186
contig referenceAMet [M]1186
66687148611 rs768635966 0.000byFreq synonymousTAsn [N]3189
contig referenceCAsn [N]3189
66687189652 rs776558609 0.000 missenseTVal [V]2203
contig referenceAAsp [D]2203
66687208671 rs747867473 0.000 synonymousALys [K]3209
contig referenceGLys [K]3209
66687227690 rs769603612 0.000 missenseTCys [C]1216
contig referenceCArg [R]1216
66687228691 rs532000022 0.000With1000GenomeData0.0002 missenseAHis [H]2216
contig referenceGArg [R]2216
66687231694 rs140400644 0.000byCluster YesmissenseGCys [C]2217
contig referenceCSer [S]2217
66687238701 rs770473254 0.000 synonymousGLeu [L]3219
contig referenceALeu [L]3219
66687241704 rs773792963 0.000 synonymousCAsn [N]3220
contig referenceTAsn [N]3220
66687243706 rs759130548 0.000 missenseTLeu [L]2221
contig referenceCPro [P]2221
66687244707 rs377685703 0.000byClusterbyFreq YessynonymousAPro [P]3221
contig referenceGPro [P]3221
66687247710 rs753286297 0.000 missenseTHis [H]3222
contig referenceGGln [Q]3222
66687253716 rs773794135 N.D. synonymousCAsn [N]3224
contig referenceTAsn [N]3224
66687264727 rs761072166 0.000 missenseALys [K]2228
contig referenceCThr [T]2228
66688306735 rs759077450 0.000 synonymousCLeu [L]1231
contig referenceTLeu [L]1231
66688317746 rs771728823 0.000 synonymousGSer [S]3234
contig referenceASer [S]3234
66688328757 rs776118914 0.000 missenseAGln [Q]2238
contig referenceGArg [R]2238
66688330759 rs761303069 0.000 nonsenseT1239
contig referenceCArg [R]1239
66688339768 rs199575835 0.002byCluster YesmissenseAIle [I]1242
missenseTLeu [L]1242
contig referenceGVal [V]1242
66688347776 rs373741084 0.000byClusterbyFreq YessynonymousTIle [I]3244
contig referenceCIle [I]3244
66688362791 rs766029612 N.D. -3251
66688369798 rs749197302 N.D. missenseGGly [G]1252
contig referenceAArg [R]1252
66688374803 rs765305777 0.000 synonymousCAsn [N]3253
contig referenceTAsn [N]3253
66688376805 rs750671800 0.000 missenseTVal [V]2254
contig referenceAAsp [D]2254
66688381810 rs758455185 0.000 missenseGVal [V]1256
contig referenceAMet [M]1256
66688389818 rs780152817 0.000 synonymousASer [S]3258
contig referenceCSer [S]3258
66688407836 rs150189016 0.001byClusterbyFreq YessynonymousASer [S]3264
contig referenceGSer [S]3264
66688411840 rs756067154 0.000 missenseGVal [V]1266
contig referenceCLeu [L]1266
66688419848 rs777781754 0.000 synonymousALys [K]3268
contig referenceGLys [K]3268
66688422851 rs748972010 0.000 missenseTIle [I]3269
contig referenceGMet [M]3269
66688424853 rs770791840 0.000 missenseTLeu [L]2270
contig referenceCPro [P]2270
66688425854 rs367579448 0.000byClusterbyFreq YessynonymousAPro [P]3270
contig referenceGPro [P]3270
66688430859 rs372242332 0.000byClusterbyFreq YesmissenseCThr [T]2272
contig referenceGSer [S]2272
66688431860 rs771675464 0.000 synonymousCSer [S]3272
contig referenceTSer [S]3272
66688952867 rs745511133 0.000byFreq missenseCHis [H]1275
contig referenceTTyr [Y]1275
66688960875 rs2227857 0.354byClusterbyFreqwithHapMapFreqWith1000GenomeData0.2296 YessynonymousALeu [L]3277
synonymousALeu [L]3277
contig referenceGLeu [L]3277
contig referenceGLeu [L]3277
66688961876 rs140607549 0.001byClusterbyFreq YesmissenseTPhe [F]1278
contig referenceCLeu [L]1278
66688966881 rs150522438 0.014byClusterbyFreqWith1000GenomeData0.0070 YessynonymousTAsn [N]3279
contig referenceCAsn [N]3279
66688987902 rs376226932 0.000byClusterWith1000GenomeData0.0002 YessynonymousTTyr [Y]3286
contig referenceCTyr [Y]3286
66688990905 rs545626945 0.000With1000GenomeData0.0002 synonymousTAsn [N]3287
contig referenceCAsn [N]3287
66688991906 rs748732162 0.000byFreq missenseAIle [I]1288
contig referenceGVal [V]1288
66688994909 rs770142713 0.000 missenseTSer [S]1289
contig referenceCPro [P]1289
66688997912 rs773628505 0.000 missenseGVal [V]1290
contig referenceAIle [I]1290
66689002917 rs139965914 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAPro [P]3291
contig referenceGPro [P]3291
66689011926 rs369357061 0.000byCluster YessynonymousTAsp [D]3294
contig referenceCAsp [D]3294
66689024939 rs759234199 N.D. frame shift-Trp [W]1299
contig referenceAMet [M]1299
66689024939 rs774664493 0.000 missenseGVal [V]1299
contig referenceAMet [M]1299
66689034949 rs759487890 0.000byFreq missenseALys [K]2302
contig referenceGArg [R]2302
66732696971 rs759840774 0.000byFreq synonymousGLys [K]3309
contig referenceALys [K]3309
66732697972 rs772038327 0.000 missenseGVal [V]1310
contig referenceCLeu [L]1310
66732699974 rs775696978 0.000 synonymousCLeu [L]3310
contig referenceTLeu [L]3310
66732704979 rs760849115 0.000byFreq missenseGArg [R]2312
contig referenceCPro [P]2312
667327251000 rs765196382 0.000 missenseAAsn [N]2319
contig referenceGSer [S]2319
667327291004 rs750413625 0.000 synonymousTPro [P]3320
contig referenceCPro [P]3320
667327301005 rs762784660 0.000 missenseCPro [P]1321
contig referenceTSer [S]1321
667327321007 rs766323530 0.000byFreq synonymousCSer [S]3321
contig referenceTSer [S]3321
667327381013 rs35821130 0.006byClusterbyFreqWith1000GenomeData0.0028 YessynonymousTAsp [D]3323
contig referenceCAsp [D]3323
667327391014 rs754719581 0.000 missenseGGly [G]1324
contig referenceAArg [R]1324
667327471022 rs538217187 N.D. synonymousGGln [Q]3326
contig referenceAGln [Q]3326
667327491024 rs780725433 0.000byFreq missenseTLeu [L]2327
contig referenceCPro [P]2327
667327511026 rs752189270 0.000 missenseGAla [A]1328
contig referenceTSer [S]1328
667327541029 rs149601883 0.000byCluster YesmissenseGAsp [D]1329
contig referenceAAsn [N]1329
667327561031 rs144350196 0.000byCluster YessynonymousTAsn [N]3329
contig referenceCAsn [N]3329
667327661041 rs749845868 0.000 nonsenseT1333
contig referenceCArg [R]1333
667327671042 rs376086959 0.000byClusterbyFreq YesmissenseAGln [Q]2333
missenseTLeu [L]2333
contig referenceGArg [R]2333
667327741049 rs746063826 0.000 synonymousGLys [K]3335
contig referenceALys [K]3335
667327791054 rs148368351 0.000byClusterWith1000GenomeData0.0002 YesmissenseTMet [M]2337
contig referenceCThr [T]2337
667327801055 rs368946369 0.000byClusterbyFreq YessynonymousAThr [T]3337
synonymousTThr [T]3337
contig referenceGThr [T]3337
667327921067 rs768876755 0.000 synonymousTPhe [F]3341
contig referenceCPhe [F]3341
667327971072 rs773258598 0.000 missenseCThr [T]2343
contig referenceTMet [M]2343
667327991074 rs373125854 0.000byClusterbyFreq YesmissenseTLeu [L]1344
contig referenceGVal [V]1344
667328041079 rs766076088 0.000byFreq synonymousALeu [L]3345
contig referenceGLeu [L]3345
667328101085 rs55707360 N.D. YessynonymousALys [K]3347
contig referenceGLys [K]3347
667355001112 rs141596151 0.000byCluster YessynonymousTAla [A]3356
contig referenceCAla [A]3356
667355011113 rs147347370 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsn [N]1357
contig referenceGAsp [D]1357
667355101122 rs765731873 0.000 missenseASer [S]1360
contig referenceGGly [G]1360
667355261138 rs139505198 0.000byCluster YesmissenseTPhe [F]2365
contig referenceATyr [Y]2365
667355291141 rs757725134 0.000 frame shift(7bp)Ala [A]2367
contig reference-Ile [I]2367
667355331145 rs758765811 0.000byFreq synonymousAIle [I]3367
contig referenceCIle [I]3367
667355361148 rs780320307 0.000 synonymousGLys [K]3368
contig referenceALys [K]3368
667355391151 rs747224875 0.000 synonymousTIle [I]3369
contig referenceCIle [I]3369
667355421154 rs755196154 0.000 synonymousALeu [L]3370
contig referenceGLeu [L]3370
667355721184 rs541892161 0.000With1000GenomeData0.0002 synonymousTAsp [D]3380
contig referenceCAsp [D]3380
667355731185 rs748202197 0.000byFreq missenseAMet [M]1381
contig referenceGVal [V]1381
667355861198 rs769786910 0.000byFreq missenseALys [K]2385
missenseCThr [T]2385
contig referenceTMet [M]2385
667355941206 rs745835054 0.000byFreq missenseCGln [Q]1388
contig referenceALys [K]1388
667355981210 rs561747335 0.000With1000GenomeData0.0002 missenseAGln [Q]2389
contig referenceGArg [R]2389
667356001212 rs775320348 0.000 missenseAIle [I]1390
contig referenceGVal [V]1390
667356171229 rs760475739 0.000 missenseGGlu [E]3395
contig referenceCAsp [D]3395
667356251237 rs145121663 0.000byCluster YesmissenseAGln [Q]2398
missenseTLeu [L]2398
contig referenceCPro [P]2398
667356261238 rs761333063 0.000byFreq synonymousAPro [P]3398
contig referenceGPro [P]3398
667356341246 rs764698470 0.000byFreq missenseTMet [M]2401
contig referenceCThr [T]2401
667356351247 rs370620237 0.000byClusterbyFreq YessynonymousAThr [T]3401
contig referenceGThr [T]3401
667356381250 rs371189939 0.000byCluster YessynonymousAGln [Q]3402
contig referenceGGln [Q]3402
667356391251 rs372984589 0.000byCluster YessynonymousTLeu [L]1403
contig referenceCLeu [L]1403
667387721283 rs759957819 0.000 synonymousALeu [L]3413
contig referenceGLeu [L]3413
667387781289 rs768035157 0.000byFreq synonymousTPhe [F]3415
contig referenceCPhe [F]3415
667387791290 rs541841621 0.000byClusterbyFreq missenseAIle [I]1416
contig referenceGVal [V]1416
667387831294 rs35590968 N.D. Yesframe shiftGGly [G]2418
contig reference-Glu [E]2418
667387911302 rs756351469 0.000byFreq missenseAIle [I]1420
contig referenceGVal [V]1420
667387961307 rs56286405 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAsn [N]3421
contig referenceCAsn [N]3421
667388021313 rs753793351 0.000byFreq synonymousTGly [G]3423
contig referenceGGly [G]3423
667388101321 rs565487208 0.000With1000GenomeData0.0002 missenseCThr [T]2426
contig referenceTMet [M]2426
667388111322 rs531167467 0.000With1000GenomeData0.0002 missenseTIle [I]3426
contig referenceGMet [M]3426
667388211332 rs375513201 0.000byCluster YesnonsenseT1430
contig referenceCGln [Q]1430
667388501361 rs768404696 0.000 synonymousGGln [Q]3439
contig referenceAGln [Q]3439
667388521363 rs780913123 0.000byFreq missenseTVal [V]2440
contig referenceCAla [A]2440
667416591367 rs781196414 0.000 synonymousCVal [V]3441
contig referenceAVal [V]3441
667416651373 rs747860021 0.000 nonsenseG3443
contig referenceTTyr [Y]3443
667416671375 rs755962439 0.000 missenseTVal [V]2444
contig referenceCAla [A]2444
667416681376 rs777273007 0.000byFreq synonymousAAla [A]3444
contig referenceGAla [A]3444
667416801388 rs748989012 0.000 synonymousTSer [S]3448
contig referenceCSer [S]3448
667416831391 rs770561487 0.000 synonymousTIle [I]3449
contig referenceCIle [I]3449
667416871395 rs139517956 0.002byClusterbyFreqWith1000GenomeData0.0010 YessynonymousCLeu [L]1451
contig referenceTLeu [L]1451
667416891397 rs745386914 0.000 synonymousALeu [L]3451
contig referenceGLeu [L]3451
667416921400 rs772638644 0.000byFreq missenseGLeu [L]3452
synonymousTPhe [F]3452
contig referenceCPhe [F]3452
667417061414 rs760897668 0.000byFreq missenseTIle [I]2457
contig referenceGArg [R]2457
667417201428 rs572363802 0.000With1000GenomeData0.0002 synonymousCArg [R]1462
contig referenceAArg [R]1462
667426251433 rs756914492 0.000 synonymousCAsp [D]3463
contig referenceTAsp [D]3463
667426401448 rs200595684 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAsn [N]3468
contig referenceCAsn [N]3468
667426411449 rs745329705 0.000byFreq missenseAIle [I]1469
contig referenceGVal [V]1469
667426441452 rs771633891 0.000byFreq missenseGVal [V]1470
missenseTLeu [L]1470
contig referenceAMet [M]1470
667426471455 rs747591558 0.000byFreq synonymousCLeu [L]1471
contig referenceTLeu [L]1471
667426561464 rs768894580 0.000 missenseALys [K]1474
contig referenceGGlu [E]1474
667426641472 rs777035255 0.000 synonymousCHis [H]3476
contig referenceTHis [H]3476
667426761484 rs762176858 0.000 synonymousGAla [A]3480
contig referenceTAla [A]3480
667426891497 rs765405625 0.000 missenseGGly [G]1485
contig referenceTCys [C]1485
667426911499 rs772665425 0.000 synonymousTCys [C]3485
contig referenceCCys [C]3485
667427011509 rs34406842 0.000byClusterWith1000GenomeData0.0002 YesmissenseGVal [V]1489
contig referenceAMet [M]1489
667427051513 rs766524625 0.000byFreq missenseCThr [T]2490
contig referenceTMet [M]2490
667427081516 rs752577272 0.000byFreq missenseGGly [G]2491
contig referenceAAsp [D]2491
667427131521 rs760726899 0.000 missenseAIle [I]1493
contig referenceGVal [V]1493
667427171525 rs763954407 0.000 missenseGArg [R]2494
contig referenceCThr [T]2494
667427181526 rs753622928 0.000 synonymousAThr [T]3494
contig referenceGThr [T]3494
667427211529 rs757147230 0.000 synonymousAThr [T]3495
contig referenceCThr [T]3495
667427331541 rs778656380 0.000byFreq synonymousCCys [C]3499
contig referenceTCys [C]3499
667427521560 rs750145950 0.000byFreq missenseCPro [P]1506
contig referenceGAla [A]1506
667427591567 rs757811919 0.000 missenseTVal [V]2508
contig referenceAGlu [E]2508
667739931575 rs750091036 0.000 missenseAThr [T]1511
contig referenceGAla [A]1511
667739971579 rs758127330 N.D. missenseTPhe [F]2512
contig referenceATyr [Y]2512
667739971579 rs780320816 N.D. frame shiftTCAGCLeu [L]2514
contig reference-Pro [P]2514
667740031585 rs779586057 0.000byFreq missenseTLeu [L]2514
contig referenceCPro [P]2514
667740041586 rs774268024 0.000byFreq synonymousAPro [P]3514
contig referenceGPro [P]3514
667740161598 rs754471094 0.000 synonymousCSer [S]3518
contig referenceTSer [S]3518
667740331615 rs781649712 0.000byFreq missenseGCys [C]2524
contig referenceATyr [Y]2524
667740351617 rs748695583 0.000 missenseASer [S]1525
contig referenceGGly [G]1525
667740371619 rs770139126 0.000 synonymousTGly [G]3525
contig referenceCGly [G]3525
667740381620 rs563946455 0.000byClusterbyFreq missenseAIle [I]1526
contig referenceGVal [V]1526
667740581640 rs749631902 0.000byFreq synonymousGLeu [L]3532
contig referenceTLeu [L]3532
667740611643 rs372716782 0.000byClusterbyFreq YessynonymousGAla [A]3533
synonymousTAla [A]3533
contig referenceCAla [A]3533
667868931676 rs757587256 0.000 synonymousTAsp [D]3544
contig referenceCAsp [D]3544
667869051688 rs34133255 0.025byCluster YesmissenseTHis [H]3548
contig referenceGGln [Q]3548
667869091692 rs145582519 0.000 YesmissenseGVal [V]1550
contig referenceAIle [I]1550
667869171700 rs779171733 0.000 synonymousAGlu [E]3552
contig referenceGGlu [E]3552
667869211704 rs200189588 0.002 YesmissenseCHis [H]1554
contig referenceAAsn [N]1554
667869321715 rs758561582 0.000byFreq synonymousCTyr [Y]3557
contig referenceTTyr [Y]3557
667869391722 rs35276120 N.D. Yesframe shiftATyr [Y]1560
contig reference-Ser [S]1560
667869421725 rs772270327 0.000byFreq synonymousCLeu [L]1561
contig referenceTLeu [L]1561
667869451728 rs775765715 0.000 missenseAThr [T]1562
contig referenceTSer [S]1562
667869631746 rs6504459 0.016byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0080 missenseGVal [V]1568
contig referenceAIle [I]1568
667869651748 rs374703129 0.000byClusterbyFreq YessynonymousAIle [I]3568
synonymousTIle [I]3568
contig referenceCIle [I]3568
667869691752 rs762789455 0.000 missenseCGln [Q]1570
contig referenceALys [K]1570
667888421761 rs750987304 0.000 missenseCLeu [L]1573
contig referenceAMet [M]1573
667888441763 rs763386871 0.000byFreq missenseAIle [I]3573
contig referenceGMet [M]3573
667888461765 rs766918637 0.000byFreq missenseTIle [I]2574
contig referenceCThr [T]2574
667888531772 rs751820837 0.000byCluster missenseAGln [Q]3576
contig referenceCHis [H]3576
667888581777 rs755097684 0.000byFreq missenseGGly [G]2578
missenseTVal [V]2578
contig referenceCAla [A]2578
667888621781 rs752683507 0.000 missenseTAsn [N]3579
contig referenceGLys [K]3579
667888651784 rs371757109 N.D. YessynonymousAArg [R]3580
contig referenceGArg [R]3580
667888801799 rs201447337 0.002byCluster YessynonymousCPro [P]3585
contig referenceTPro [P]3585
667888831802 rs144172717 0.000byClusterWith1000GenomeData0.0002 YesmissenseCAsp [D]3586
missenseTAsp [D]3586
synonymousAGlu [E]3586
contig referenceGGlu [E]3586
667888841803 rs779879529 0.000 missenseCArg [R]1587
contig referenceGGly [G]1587
667888861805 rs746815468 0.000byFreq synonymousAGly [G]3587
contig referenceGGly [G]3587
667888951814 rs768123818 0.000byFreq synonymousTAsp [D]3590
contig referenceCAsp [D]3590
667888961815 rs776376975 0.000 missenseAMet [M]1591
contig referenceGVal [V]1591
667889041823 rs2228945 0.280byClusterbyFreqWith1000GenomeData0.1685 YessynonymousAGlu [E]3593
contig referenceGGlu [E]3593
667889131832 rs769392914 0.000 synonymousTPhe [F]3596
contig referenceCPhe [F]3596
667889171836 rs773823088 0.000byFreq missenseTTrp [W]1598
contig referenceCArg [R]1598
667889201839 rs763614166 0.000 missenseTTrp [W]1599
contig referenceAArg [R]1599
667889311850 rs767006638 0.000 nonsenseA3602
contig referenceGTrp [W]3602
667889341853 rs774790216 0.000 synonymousGGlu [E]3603
contig referenceAGlu [E]3603
667889441863 rs759979805 0.000 missenseCHis [H]1607
contig referenceAAsn [N]1607
667889471866 rs765617766 N.D. missenseGGly [G]1608
contig referenceAArg [R]1608
667889501869 rs767590051 0.000 missenseCGln [Q]1609
contig referenceGGlu [E]1609
667889641883 rs753015298 0.000byFreq synonymousTPro [P]3613
contig referenceAPro [P]3613
668038741900 rs369523075 N.D. YesmissenseATyr [Y]2619
contig referenceGCys [C]2619
668038841910 rs781106215 0.000byFreq synonymousGGly [G]3622
contig referenceAGly [G]3622
668038871913 rs752450530 0.000 synonymousGAla [A]3623
contig referenceAAla [A]3623
668039041930 rs755762168 0.000byFreq missenseCSer [S]2629
contig referenceTPhe [F]2629
668039111937 rs777600522 0.000 synonymousGThr [T]3631
contig referenceAThr [T]3631
668039121938 rs561355502 0.000With1000GenomeData0.0002 nonsenseT1632
contig referenceCArg [R]1632
668039131939 rs140466753 0.000byCluster YesmissenseAGln [Q]2632
contig referenceGArg [R]2632
668039171943 rs779258930 0.000 synonymousGGly [G]3633
contig referenceAGly [G]3633
668039201946 rs746457137 0.000 synonymousAGln [Q]3634
contig referenceGGln [Q]3634
668039231949 rs145639499 0.000byClusterWith1000GenomeData0.0002 YessynonymousGPro [P]3635
synonymousTPro [P]3635
contig referenceCPro [P]3635
668039241950 rs141376042 0.004byClusterbyFreqWith1000GenomeData0.0022 YesmissenseAIle [I]1636
contig referenceGVal [V]1636
668039351961 rs768822249 0.000byFreq synonymousGPro [P]3639
contig referenceAPro [P]3639
668039501976 rs776859676 0.000 synonymousCVal [V]3644
contig referenceTVal [V]3644
668039511977 rs761859483 0.000 missenseGVal [V]1645
contig referenceAIle [I]1645
668039601986 rs765338275 0.000byFreq missenseGVal [V]1648
contig referenceAIle [I]1648
668039611987 rs751445956 0.000 missenseCThr [T]2648
contig referenceTIle [I]2648
668039621988 rs759461144 0.000 missenseGMet [M]3648
contig referenceAIle [I]3648
668039651991 rs767363000 0.000 missenseGGlu [E]3649
contig referenceCAsp [D]3649
668039701996 rs752497956 0.000 missenseTPhe [F]2651
contig referenceCSer [S]2651
668039802006 rs755996011 0.000 synonymousGGlu [E]3654
contig referenceAGlu [E]3654
668039882014 rs369070488 N.D. YesmissenseTLeu [L]2657
contig referenceCSer [S]2657
668039892015 rs370194549 0.004byClusterbyFreqWith1000GenomeData0.0020 YessynonymousASer [S]3657
contig referenceGSer [S]3657
668039942020 rs753589948 0.000 missenseCAla [A]2659
contig referenceTVal [V]2659
668039982024 rs762273431 0.000 synonymousTAsn [N]3660
contig referenceCAsn [N]3660
668039992025 rs778547161 0.000 missenseAThr [T]1661
contig referenceCPro [P]1661
668040032029 rs745380001 0.000byFreq missenseGArg [R]2662
contig referenceAGln [Q]2662
668040072033 rs772561516 0.000 synonymousCPhe [F]3663
contig referenceTPhe [F]3663
668040172043 rs373125445 0.000byClusterbyFreq YesmissenseTPhe [F]1667
contig referenceAIle [I]1667
668040222048 rs747321782 0.000byFreq missenseTPhe [F]3668
synonymousGLeu [L]3668
contig referenceALeu [L]3668
668040242050 rs150241910 0.000byCluster YesmissenseGArg [R]2669
contig referenceAGln [Q]2669
668040272053 rs538946868 0.000With1000GenomeData0.0002 missenseAAsn [N]2670
contig referenceGSer [S]2670
668040312057 rs765807059 0.000byFreq synonymousGAla [A]3671
contig referenceAAla [A]3671
668040332059 rs773277158 0.000 missenseCAla [A]2672
contig referenceTVal [V]2672

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