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SNP linked to Gene (geneID:57863) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_021189.4plus strandNP_067012.1forwardNT_004487.20GRCh38.p7<- currently shown
NM_001346510.1plus strandNP_001333439.1forwardNT_004487.20GRCh38.p7View snp on GeneModel
NM_001127173.2plus strandNP_001120645.1forwardNT_004487.20GRCh38.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_004487.20NM_021189.4NP_067012.1forwardplus strand405, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
159171766203 rs1322893382 N.D. missenseGVal [V]11
contig referenceAMet [M]11
159171770207 rs1053137397 N.D. missenseTVal [V]22
contig referenceGGly [G]22
159171771208 rs1416646758 N.D. synonymousCGly [G]32
contig referenceGGly [G]32
159171772209 rs1163364492 N.D. missenseAThr [T]13
contig referenceGAla [A]13
159171773210 rs765839404 0.003 missenseTVal [V]23
contig referenceCAla [A]23
159171775212 rs1370818341 N.D. missenseTSer [S]14
contig referenceCPro [P]14
159171782219 rs1192450077 N.D. missenseAAsp [D]26
contig referenceCAla [A]26
159171784221 rs1449995461 N.D. missenseAThr [T]17
contig referenceTSer [S]17
159171785222 rs578171563 N.D.byClusterWith1000GenomeData0.0012 GCTCCT [LL]214
159171786223 rs775768702 N.D. -313
159171786223 rs974463349 N.D.byCluster -311
159171787224 rs988102486 N.D. missenseAIle [I]18
contig referenceCLeu [L]18
159171789226 rs1381420864 N.D. synonymousTLeu [L]38
contig referenceCLeu [L]38
159171790227 rs773855583 0.000byFreq synonymousTLeu [L]19
contig referenceCLeu [L]19
159171793230 rs1268489501 N.D. missenseTPhe [F]110
contig referenceCLeu [L]110
159171795232 rs1227348871 N.D. synonymousALeu [L]310
contig referenceCLeu [L]310
159171797234 rs1039713414 N.D. missenseAGln [Q]211
contig referenceTLeu [L]211
159171798235 rs113542183 0.500 synonymousCLeu [L]311
synonymousTLeu [L]311
contig referenceGLeu [L]311
159171799236 rs1300294726 N.D. missenseTPhe [F]112
contig referenceCLeu [L]112
159171802239 rs759132741 0.000byFreq synonymousTLeu [L]113
contig referenceCLeu [L]113
159171803240 rs912065091 N.D. missenseAGln [Q]213
contig referenceTLeu [L]213
159171804241 rs767064877 0.000 synonymousCLeu [L]313
contig referenceGLeu [L]313
159171806243 rs752463453 0.000byFreq missenseCPro [P]214
contig referenceTLeu [L]214
159171807244 rs946171223 N.D. synonymousCLeu [L]314
contig referenceGLeu [L]314
159171809246 rs977538302 N.D. missenseCSer [S]215
contig referenceTPhe [F]215
159171815252 rs757529773 0.001 missenseATyr [Y]217
contig referenceGCys [C]217
159171818255 rs1285265472 N.D. missenseCSer [S]218
contig referenceGCys [C]218
159171819256 rs926026037 N.D. synonymousTCys [C]318
contig referenceCCys [C]318
159171821258 rs1452208221 N.D. missenseTLeu [L]219
contig referenceGTrp [W]219
159171824261 rs765681127 0.000 missenseAGlu [E]220
contig referenceCAla [A]220
159171825262 rs1376445514 N.D. synonymousAAla [A]320
contig referenceGAla [A]320
159171828265 rs1360454825 N.D. synonymousGPro [P]321
contig referenceCPro [P]321
159171829266 rs750910575 0.000 missenseASer [S]122
missenseTCys [C]122
contig referenceGGly [G]122
159171831268 rs529885845 0.000With1000GenomeData0.0002 synonymousTGly [G]322
contig referenceCGly [G]322
159171832269 rs1406726592 N.D. missenseAArg [R]123
contig referenceGGly [G]123
159171834271 rs111767231 0.017byClusterbyFreqWith1000GenomeData0.0082 synonymousAGly [G]323
contig referenceGGly [G]323
159171838275 rs894438762 N.D. missenseCHis [H]125
contig referenceAAsn [N]125
159171839276 rs951301918 N.D. missenseCThr [T]225
contig referenceAAsn [N]225
159171842279 rs1396466498 N.D. missenseCPro [P]226
contig referenceTLeu [L]226
159171849286 rs1335602698 N.D. synonymousAGln [Q]328
contig referenceGGln [Q]328
159171850287 rs1392018025 N.D. missenseAAsn [N]129
missenseTTyr [Y]129
contig referenceGAsp [D]129
159171852289 rs1309269516 N.D. missenseAGlu [E]329
synonymousTAsp [D]329
contig referenceCAsp [D]329
159171853290 rs780213010 0.000 missenseASer [S]130
missenseCArg [R]130
missenseTCys [C]130
contig referenceGGly [G]130
159189772292 rs774981672 0.000 synonymousTGly [G]330
contig referenceCGly [G]330
159189778298 rs1220716621 N.D. nonsenseA332
contig referenceGTrp [W]332
159189783303 rs1293201478 N.D. missenseGGly [G]234
contig referenceAGlu [E]234
159189784304 rs966896778 N.D. synonymousAGlu [E]334
contig referenceGGlu [E]334
159189785305 rs1228065846 N.D. missenseGGlu [E]135
contig referenceCGln [Q]135
159189802322 rs201779953 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGGly [G]340
contig referenceAGly [G]340
159189803323 rs1377139705 N.D. missenseTSer [S]141
contig referenceAThr [T]141
159189805325 rs1001407594 N.D. synonymousGThr [T]341
contig referenceTThr [T]341
159189810330 rs1200252441 N.D. missenseTVal [V]243
contig referenceCAla [A]243
159189812332 rs1481692962 N.D. missenseGAla [A]144
contig referenceCPro [P]144
159189814334 rs765478404 0.000byFreq synonymousTPro [P]344
contig referenceAPro [P]344
159189815335 rs1212571672 N.D. missenseAIle [I]145
missenseTPhe [F]145
contig referenceCLeu [L]145
159189816336 rs1336847310 N.D. CGAAsp [D]246
159189817337 rs934886786 N.D. synonymousTLeu [L]345
contig referenceCLeu [L]345
159189818338 rs150071589 0.000byClusterbyFreq missenseAAsn [N]146
contig referenceGAsp [D]146
159189820340 rs758913293 0.000byFreq synonymousTAsp [D]346
contig referenceCAsp [D]346
159189821341 rs766975981 0.000byFreq missenseALys [K]147
contig referenceGGlu [E]147
159189824344 rs1261479684 N.D. missenseAThr [T]148
contig referenceGAla [A]148
159189825345 rs1429568484 N.D. missenseTVal [V]248
contig referenceCAla [A]248
159189827347 rs1173441413 N.D. missenseGVal [V]149
missenseTPhe [F]149
contig referenceAIle [I]149
159189830350 rs3026985 0.000byClusterbyFreq missenseCArg [R]150
contig referenceASer [S]150
159189831351 rs1343754392 N.D. missenseAAsn [N]250
contig referenceGSer [S]250
159189834354 rs370579775 0.000byCluster missenseTPhe [F]251
contig referenceCSer [S]251
159189836356 rs754993288 0.000 missenseGAla [A]152
contig referenceAThr [T]152
159189838358 rs1351783322 N.D. synonymousTThr [T]352
contig referenceAThr [T]352
159189839359 rs781357085 0.000byFreq missenseTPhe [F]153
contig referenceGVal [V]153
159189843363 rs1286832605 N.D. nonsenseA254
contig referenceGTrp [W]254
159189844364 rs1361022431 N.D. missenseTCys [C]354
contig referenceGTrp [W]354
159189847367 rs1225324064 N.D. synonymousTSer [S]355
contig referenceCSer [S]355
159189848368 rs752826504 0.000 missenseGGly [G]156
contig referenceASer [S]156
159189849369 rs1346292274 N.D. missenseAAsn [N]256
contig referenceGSer [S]256
159189851371 rs1279987996 N.D. missenseGAla [A]157
contig referenceCPro [P]157
159189855375 rs1332651322 N.D. missenseCAla [A]258
contig referenceAAsp [D]258
159189856376 rs756367551 0.000byFreq synonymousTAsp [D]358
contig referenceCAsp [D]358
159189857377 rs137949054 0.002byClusterbyFreqWith1000GenomeData0.0010 missenseGVal [V]159
contig referenceAMet [M]159
159189860380 rs1323081253 N.D. missenseGVal [V]160
contig referenceCLeu [L]160
159189863383 rs1213230939 N.D. missenseAThr [T]161
contig referenceGAla [A]161
159189867387 rs971329268 N.D. missenseAAsn [N]262
contig referenceGSer [S]262
159189868388 rs749069974 0.000 missenseAArg [R]362
synonymousCSer [S]362
contig referenceTSer [S]362
159189870390 rs1196347152 N.D. missenseGArg [R]263
contig referenceAGln [Q]263
159191936393 rs1334741071 N.D. missenseCAla [A]264
contig referenceAAsp [D]264
159191937394 rs757026090 0.000 synonymousTAsp [D]364
contig referenceCAsp [D]364
159191941398 rs1010695144 N.D. missenseALys [K]166
contig referenceCGln [Q]166
159191943400 rs745751427 0.000 synonymousAGln [Q]366
contig referenceGGln [Q]366
159191944401 rs1390950949 N.D. missenseTSer [S]167
contig referenceCPro [P]167
159191947404 rs772051000 0.000byFreq missenseCArg [R]168
contig referenceTTrp [W]168
159191949406 rs1241872262 N.D. missenseCCys [C]368
contig referenceGTrp [W]368
159191951408 rs779373321 0.000 missenseTIle [I]269
contig referenceCThr [T]269
159191953410 rs746512033 0.000 missenseCPro [P]170
contig referenceTSer [S]170
159191954411 rs1235558035 N.D. missenseTPhe [F]270
contig referenceCSer [S]270
159191964421 rs760731887 0.000 -375
159191964421 rs768345602 0.000 synonymousCThr [T]373
contig referenceAThr [T]373
159191967424 rs575100592 0.001byClusterbyFreq synonymousAVal [V]374
contig referenceGVal [V]374
159191971428 rs1038902171 N.D. missenseAThr [T]176
contig referenceGAla [A]176
159191976433 rs201073643 0.005byClusterbyFreq YessynonymousCGly [G]377
synonymousGGly [G]377
contig referenceTGly [G]377
159191979436 rs764201437 0.000 -379
159191979436 rs774863663 0.000byFreq synonymousGGly [G]378
synonymousTGly [G]378
contig referenceCGly [G]378
159191982439 rs1394780360 N.D. synonymousAThr [T]379
synonymousTThr [T]379
contig referenceCThr [T]379
159191983440 rs201884647 0.000byClusterbyFreq YesmissenseAMet [M]180
contig referenceGVal [V]180
159191985442 rs768060050 0.000byFreq synonymousAVal [V]380
contig referenceGVal [V]380
159191988445 rs753215107 0.000byFreq synonymousAVal [V]381
contig referenceGVal [V]381
159191997454 rs1262642836 N.D. synonymousTCys [C]384
contig referenceCCys [C]384
159191999456 rs376826683 0.000byClusterbyFreq YesmissenseGArg [R]285
contig referenceAGln [Q]285
159192007464 rs764210672 0.000byFreq missenseAAsn [N]188
missenseTTyr [Y]188
contig referenceGAsp [D]188
159192012469 rs940902134 N.D. synonymousTHis [H]389
contig referenceCHis [H]389
159192013470 rs372984577 0.000byCluster YesmissenseALys [K]190
contig referenceGGlu [E]190
159192016473 rs764942306 0.000 missenseAAsn [N]191
contig referenceGAsp [D]191
159192024481 rs750242393 0.000byFreq synonymousTSer [S]393
contig referenceCSer [S]393
159192025482 rs1460838185 N.D. synonymousTLeu [L]194
contig referenceCLeu [L]194
159192030487 rs1263607925 N.D. synonymousGGln [Q]395
contig referenceAGln [Q]395
159192041498 rs758184277 0.000 missenseTLeu [L]299
contig referenceCPro [P]299
159192042499 rs140248716 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGPro [P]399
contig referenceTPro [P]399
159192043500 rs746958815 0.000 missenseAThr [T]1100
contig referenceGAla [A]1100
159192048505 rs1337947390 N.D. synonymousAGln [Q]3101
contig referenceGGln [Q]3101
159192055512 rs374672732 0.000byCluster YesmissenseTPhe [F]1104
contig referenceCLeu [L]1104
159192056513 rs754513310 0.000 missenseCPro [P]2104
contig referenceTLeu [L]2104
159192062519 rs1034677735 N.D. missenseGCys [C]2106
contig referenceTPhe [F]2106
159192064521 rs1259334839 N.D. missenseAArg [R]1107
contig referenceGGly [G]1107
159192069526 rs1320091514 N.D. synonymousAGlu [E]3108
contig referenceGGlu [E]3108
159192578534 rs751476207 0.000 missenseGGly [G]2111
contig referenceCAla [A]2111
159192579535 rs754971531 0.000byFreq synonymousGAla [A]3111
contig referenceCAla [A]3111
159192580536 rs1416548905 N.D. missenseGVal [V]1112
contig referenceCLeu [L]1112
159192588544 rs780792191 0.000byFreq synonymousCAsp [D]3114
contig referenceTAsp [D]3114
159192598554 rs1164633315 N.D. missenseGGlu [E]1118
contig referenceCGln [Q]1118
159192599555 rs371824931 0.000byClusterbyFreq YesmissenseGArg [R]2118
contig referenceAGln [Q]2118
159192601557 rs187132036 N.D.byClusterWith1000GenomeData YessynonymousTLeu [L]1119
contig referenceCLeu [L]1119
159192604560 rs1400470230 N.D. missenseAIle [I]1120
missenseTPhe [F]1120
contig referenceGVal [V]1120
159192605561 rs4329510 N.D. YesmissenseGGly [G]2120
contig referenceTVal [V]2120
159192608564 rs1299214820 N.D. missenseTIle [I]2121
contig referenceCThr [T]2121
159192609565 rs755756300 0.000 synonymousTThr [T]3121
contig referenceCThr [T]3121
159192612568 rs777454778 0.000 synonymousASer [S]3122
contig referenceTSer [S]3122
159192614570 rs748945624 0.000byFreq missenseTMet [M]2123
contig referenceCThr [T]2123
159192615571 rs146412590 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAThr [T]3123
contig referenceGThr [T]3123
159192618574 rs775746546 0.000 synonymousGPro [P]3124
contig referenceCPro [P]3124
159192619575 rs375999159 0.000byCluster YesmissenseTTyr [Y]1125
contig referenceCHis [H]1125
159192621577 rs769161367 0.000byFreq synonymousTHis [H]3125
contig referenceCHis [H]3125
159192622578 rs888060211 N.D. missenseALys [K]1126
contig referenceGGlu [E]1126
159192625581 rs1286478874 N.D. TCAGCA [IS]1132
159192627583 rs1489199789 N.D. synonymousGLeu [L]3127
contig referenceCLeu [L]3127
159192629585 rs777176359 0.000 missenseAAsn [N]2128
contig referenceGSer [S]2128
159192634590 rs761876244 0.000 missenseGGly [G]1130
contig referenceASer [S]1130
159192637593 rs1423858886 N.D. missenseGVal [V]1131
contig referenceAIle [I]1131
159192649605 rs1459484598 N.D. missenseAThr [T]1135
contig referenceGAla [A]1135
159192651607 rs765272968 0.000 synonymousTAla [A]3135
contig referenceCAla [A]3135
159192655611 rs1261752303 N.D. missenseAThr [T]1137
contig referenceGAla [A]1137
159192660616 rs557217087 0.000byFreqWith1000GenomeData0.0012 synonymousTAsp [D]3138
contig referenceCAsp [D]3138
159192663619 rs975265753 N.D. missenseCAsp [D]3139
contig referenceGGlu [E]3139
159192666622 rs1159555543 N.D. synonymousTGly [G]3140
contig referenceCGly [G]3140
159192667623 rs369601885 0.000byClusterbyFreq YesmissenseALys [K]1141
contig referenceGGlu [E]1141
159192672628 rs966175397 N.D. synonymousTTyr [Y]3142
contig referenceCTyr [Y]3142
159192678634 rs1433313388 N.D. synonymousTCys [C]3144
contig referenceCCys [C]3144
159192682638 rs200275600 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGVal [V]1146
contig referenceAIle [I]1146
159192683639 rs1403587895 N.D. missenseAAsn [N]2146
contig referenceTIle [I]2146
159192690646 rs751327260 0.000 synonymousCThr [T]3148
contig referenceTThr [T]3148
159192691647 rs1326955118 N.D. missenseCLeu [L]1149
contig referenceAMet [M]1149
159192696652 rs952612749 N.D. synonymousGPro [P]3150
contig referenceTPro [P]3150
159192697653 rs1448271139 N.D. missenseAMet [M]1151
contig referenceGVal [V]1151
159192700656 rs983781182 N.D. nonsenseT1152
contig referenceCArg [R]1152
159192701657 rs372345467 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2152
contig referenceGArg [R]2152
159192704660 rs375465939 0.000byClusterbyFreq YesmissenseTIle [I]2153
contig referenceCThr [T]2153
159192705661 rs752726122 0.000 synonymousCThr [T]3153
contig referenceTThr [T]3153
159192714670 rs755666560 0.000 synonymousASer [S]3156
contig referenceCSer [S]3156
159192718674 rs369946971 0.000byCluster YesmissenseAIle [I]1158
missenseCLeu [L]1158
contig referenceGVal [V]1158
159192722678 rs1231860331 N.D. missenseTIle [I]2159
contig referenceCThr [T]2159
159192723679 rs753491750 0.000byFreq synonymousCThr [T]3159
contig referenceTThr [T]3159
159192725681 rs1483551120 N.D. missenseCAla [A]2160
contig referenceTVal [V]2160
159192726682 rs992950448 N.D. synonymousAVal [V]3160
contig referenceGVal [V]3160
159192729685 rs918102000 N.D. synonymousGLeu [L]3161
contig referenceALeu [L]3161
159193438702 rs755311911 0.000 missenseTLeu [L]2167
contig referenceCPro [P]2167
159193439703 rs781557694 0.000 synonymousTPro [P]3167
contig referenceCPro [P]3167
159193440704 rs748612054 0.000 missenseGVal [V]1168
contig referenceAIle [I]1168
159193457721 rs1392506355 N.D. synonymousGLys [K]3173
contig referenceALys [K]3173
159193458722 rs770218887 0.000 missenseCPro [P]1174
contig referenceTSer [S]1174
159193459723 rs1292671099 N.D. missenseATyr [Y]2174
contig referenceCSer [S]2174
159193466730 rs778404160 0.000 synonymousGLeu [L]3176
contig referenceALeu [L]3176
159193467731 rs1021719284 N.D. missenseTTrp [W]1177
contig referenceCArg [R]1177
159193468732 rs1293309397 N.D. missenseAGln [Q]2177
missenseTLeu [L]2177
contig referenceGArg [R]2177
159193472736 rs769220167 N.D.byCluster synonymousGGlu [E]3178
contig referenceAGlu [E]3178
159193480744 rs749325618 0.000byFreq missenseTIle [I]2181
contig referenceCThr [T]2181
159193483747 rs1339015457 N.D. missenseAAsp [D]2182
contig referenceCAla [A]2182
159193485749 rs771084012 0.000byFreq missenseCPro [P]1183
missenseGAla [A]1183
contig referenceAThr [T]1183
159193493757 rs774697795 0.000 missenseGLys [K]3185
contig referenceCAsn [N]3185
159193503767 rs1472446588 N.D. missenseCPro [P]1189
contig referenceTSer [S]1189
159193523787 rs1220363293 N.D. synonymousAAla [A]3195
synonymousTAla [A]3195
contig referenceCAla [A]3195
159193524788 rs3026987 0.025byClusterbyFreqWith1000GenomeData0.0050 missenseTTrp [W]1196
contig referenceCArg [R]1196
159193525789 rs148250608 0.000byClusterbyFreq missenseAGln [Q]2196
contig referenceGArg [R]2196
159193529793 rs554827373 0.000byFreqWith1000GenomeData0.0002 synonymousALeu [L]3197
synonymousGLeu [L]3197
synonymousTLeu [L]3197
contig referenceCLeu [L]3197
159193540804 rs1266130711 N.D. missenseGArg [R]2201
contig referenceALys [K]2201
159193541805 rs763921702 0.000 missenseCAsn [N]3201
contig referenceGLys [K]3201
159193543807 rs776694830 0.000 missenseAAsp [D]2202
contig referenceGGly [G]2202
159193545809 rs1195856299 N.D. missenseAAsn [N]1203
contig referenceGAsp [D]1203
159193548812 rs1415785550 N.D. missenseALys [K]1204
contig referenceCGln [Q]1204
159193552816 rs1288289217 N.D. missenseCAla [A]2205
contig referenceAGlu [E]2205
159193554818 rs1423378272 N.D. missenseGVal [V]1206
contig referenceCLeu [L]1206
159193556820 rs761194172 0.000 synonymousTLeu [L]3206
contig referenceCLeu [L]3206
159193558822 rs1035677479 N.D. missenseGArg [R]2207
contig referenceAHis [H]2207
159193559823 rs200132536 0.000byClusterbyFreq missenseAGln [Q]3207
synonymousTHis [H]3207
contig referenceCHis [H]3207
159193560824 rs1459225793 N.D. missenseAArg [R]1208
contig referenceGGly [G]1208
159193872827 rs751691830 0.000 missenseCGln [Q]1209
contig referenceGGlu [E]1209
159193874829 rs1476817884 N.D. synonymousGGlu [E]3209
contig referenceAGlu [E]3209
159193878833 rs199748116 0.000byClusterWith1000GenomeData0.0002 missenseGAla [A]1211
contig referenceAThr [T]1211
159193882837 rs374440725 0.000byCluster missenseAHis [H]2212
contig referenceGArg [R]2212
159193883838 rs1478548649 N.D. synonymousTArg [R]3212
contig referenceCArg [R]3212
159193884839 rs1161064949 N.D. missenseGVal [V]1213
contig referenceAIle [I]1213
159193887842 rs747971741 0.000 missenseGGlu [E]1214
contig referenceCGln [Q]1214
159193889844 rs3026990 0.000byCluster synonymousAGln [Q]3214
contig referenceGGln [Q]3214
159193890845 rs1325982988 N.D. missenseALys [K]1215
contig referenceGGlu [E]1215
159193895850 rs539279686 0.000byFreqWith1000GenomeData0.0002 synonymousCAsp [D]3216
contig referenceTAsp [D]3216
159193896851 rs191216919 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTSer [S]1217
contig referenceCPro [P]1217
159193898853 rs1279453515 N.D. synonymousTPro [P]3217
contig referenceCPro [P]3217
159193900855 rs770392248 0.000 missenseGSer [S]2218
contig referenceAAsn [N]2218
159193902857 rs1242749617 N.D. missenseASer [S]1219
contig referenceGGly [G]1219
159193903858 rs910006305 N.D. missenseAAsp [D]2219
contig referenceGGly [G]2219
159193921876 rs201631787 0.000byClusterWith1000GenomeData0.0002 missenseTIle [I]2225
contig referenceGSer [S]2225
159193923878 rs773920471 0.000 missenseCArg [R]1226
missenseGGly [G]1226
contig referenceASer [S]1226
159193927882 rs1179781491 N.D. missenseTLeu [L]2227
contig referenceCSer [S]2227
159193928883 rs773654084 0.000 synonymousASer [S]3227
contig referenceGSer [S]3227
159193929884 rs374043389 0.000byClusterbyFreq missenseAMet [M]1228
missenseTLeu [L]1228
contig referenceGVal [V]1228
159193936891 rs761121273 0.000byFreq missenseATyr [Y]2230
contig referenceTPhe [F]2230
159193937892 rs765741834 0.000 missenseGLeu [L]3230
contig referenceCPhe [F]3230
159193941896 rs750908279 0.000 missenseAIle [I]1232
contig referenceGVal [V]1232
159193944899 rs763585215 0.000 missenseGAla [A]1233
contig referenceAThr [T]1233
159193947902 rs766302795 0.000byFreq missenseTTrp [W]1234
contig referenceCArg [R]1234
159193952907 rs927444873 N.D. synonymousAGlu [E]3235
contig referenceGGlu [E]3235
159193961916 rs1367491156 N.D. synonymousAGly [G]3238
contig referenceGGly [G]3238
159193963918 rs1472925062 N.D. missenseTVal [V]2239
contig referenceCAla [A]2239
159193964919 rs367893559 0.000byClusterbyFreq synonymousAAla [A]3239
contig referenceGAla [A]3239
159193966921 rs755069179 0.000 missenseAAsn [N]2240
contig referenceGSer [S]2240
159193970925 rs371655700 0.000byClusterbyFreq synonymousTIle [I]3241
contig referenceCIle [I]3241
159193971926 rs752968520 0.000byFreq missenseAMet [M]1242
contig referenceGVal [V]1242
159193979934 rs1161474834 N.D. synonymousCSer [S]3244
contig referenceTSer [S]3244
159193987942 rs896965574 N.D. missenseTLeu [L]2247
contig referenceAHis [H]2247
159193988943 rs1363057068 N.D. synonymousCHis [H]3247
contig referenceTHis [H]3247
159193993948 rs1394310427 N.D. missenseGCys [C]2249
contig referenceCSer [S]2249
159193994949 rs937445246 N.D. synonymousCSer [S]3249
contig referenceTSer [S]3249
159194014969 rs867065366 N.D. missenseTPhe [F]2256
contig referenceCSer [S]2256
159194017972 rs1302056797 N.D. missenseTIle [I]2257
contig referenceCThr [T]2257
159194018973 rs1333624044 N.D. synonymousGThr [T]3257
contig referenceCThr [T]3257
159194022977 rs375227549 0.000byCluster missenseGGlu [E]1259
contig referenceCGln [Q]1259
159194024979 rs1341222626 N.D. synonymousGGln [Q]3259
contig referenceAGln [Q]3259
159194025980 rs1057465032 N.D. missenseTCys [C]1260
contig referenceCArg [R]1260
159194026981 rs777578740 0.000 missenseAHis [H]2260
missenseTLeu [L]2260
contig referenceGArg [R]2260
159194027982 rs200807809 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAArg [R]3260
synonymousTArg [R]3260
contig referenceCArg [R]3260
159194028983 rs895862336 N.D. missenseTPhe [F]1261
contig referenceAIle [I]1261
159194033988 rs778777622 0.000 missenseCAsp [D]3262
contig referenceAGlu [E]3262
159196365997 rs944216471 N.D. synonymousTTyr [Y]3265
contig referenceCTyr [Y]3265
1591963751007 rs1473378676 N.D. missenseTSer [S]1269
contig referenceGAla [A]1269
1591963761008 rs778876352 0.000 missenseTVal [V]2269
contig referenceCAla [A]2269
1591963771009 rs774384382 N.D. synonymousAAla [A]3269
contig referenceGAla [A]3269
1591963791011 rs1255705851 N.D. missenseCThr [T]2270
contig referenceTMet [M]2270
1591963861018 rs1457063344 N.D. synonymousAArg [R]3272
contig referenceGArg [R]3272
1591963921024 rs138200155 0.001byClusterbyFreq missenseAGlu [E]3274
contig referenceCAsp [D]3274
1591963951027 rs924611633 N.D. synonymousGPro [P]3275
contig referenceTPro [P]3275
1591963961028 rs757871957 0.000 missenseTSer [S]1276
contig referenceCPro [P]1276
1591964001032 rs767429165 N.D. missenseGArg [R]2277
contig referenceAHis [H]2277
1591964051037 rs1431857861 N.D. missenseTCys [C]1279
contig referenceCArg [R]1279
1591964061038 rs1198767978 N.D. missenseAHis [H]2279
contig referenceGArg [R]2279
1591964131045 rs376129264 0.000byClusterbyFreq synonymousTGly [G]3281
contig referenceCGly [G]3281
1591964181050 rs1467606943 N.D. missenseGArg [R]2283
contig referenceALys [K]2283
1591964291061 rs535252823 0.000byFreqWith1000GenomeData0.0002 missenseTTyr [Y]1287
contig referenceCHis [H]1287
1591964311063 rs934754926 N.D. synonymousTHis [H]3287
contig referenceCHis [H]3287
1591964381070 rs1053818188 N.D. missenseASer [S]1290
contig referenceGGly [G]1290
1591964421074 rs369549589 0.000byClusterbyFreq missenseAHis [H]2291
contig referenceGArg [R]2291
1591964431075 rs373766355 0.000byClusterbyFreq synonymousTArg [R]3291
contig referenceCArg [R]3291
1591964441076 rs1291637251 N.D. missenseASer [S]1292
contig referenceGGly [G]1292
1591964511083 rs1460613511 N.D. missenseTLeu [L]2294
contig referenceCPro [P]2294
1591964531085 rs749658588 0.000 missenseTPhe [F]1295
contig referenceGVal [V]1295
1591968911087 rs149370954 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAVal [V]3295
synonymousTVal [V]3295
contig referenceCVal [V]3295
1591968941090 rs370853546 0.000byClusterbyFreq synonymousTPro [P]3296
contig referenceCPro [P]3296
1591968961092 rs1339269398 N.D. missenseGArg [R]2297
contig referenceAGln [Q]2297
1591969071103 rs1289804434 N.D. missenseCArg [R]1301
contig referenceTTrp [W]1301
1591969101106 rs1218750519 N.D. missenseALys [K]1302
contig referenceGGlu [E]1302
1591969131109 rs1174414024 N.D. missenseGGlu [E]1303
contig referenceALys [K]1303
1591969151111 rs995261853 N.D. synonymousALys [K]3303
contig referenceGLys [K]3303
1591969181114 rs746503809 0.000 missenseTAsp [D]3304
contig referenceGGlu [E]3304
1591969191115 rs1026710918 N.D. missenseASer [S]1305
contig referenceGGly [G]1305
1591969201116 rs754602198 0.000 missenseAAsp [D]2305
contig referenceGGly [G]2305
1591969211117 rs780970214 0.000 synonymousTGly [G]3305
contig referenceCGly [G]3305
1591969231119 rs747778216 0.000 missenseAAsn [N]2306
contig referenceGSer [S]2306
1591969241120 rs1266418723 N.D. synonymousCSer [S]3306
contig referenceTSer [S]3306
1591969271123 rs745708713 0.000 frame shift-His [H]3308
contig referenceGPro [P]3308
1591969281124 rs771288724 0.000 missenseTSer [S]1308
contig referenceCPro [P]1308
1591969291125 rs779152200 0.000byFreq missenseTLeu [L]2308
contig referenceCPro [P]2308
1591969311127 rs1488646800 N.D. missenseTSer [S]1309
contig referenceCPro [P]1309
1591969361132 rs746330621 0.000 synonymousALeu [L]3310
contig referenceGLeu [L]3310
1591969391135 rs771897897 0.000 -3312
1591969401136 rs772556153 0.000 missenseGVal [V]1312
contig referenceAMet [M]1312
1591969411137 rs1163732809 N.D. missenseCThr [T]2312
contig referenceTMet [M]2312
1591969421138 rs1385616437 N.D. missenseAIle [I]3312
contig referenceGMet [M]3312
1591969481144 rs138675429 0.004byClusterbyFreqWith1000GenomeData0.0004 synonymousAGln [Q]3314
contig referenceGGln [Q]3314
1591969491145 rs1379654053 N.D. missenseALys [K]1315
contig referenceGGlu [E]1315
1591969501146 rs760716796 0.000 missenseGGly [G]2315
contig referenceAGlu [E]2315
1591969581154 rs1392349029 N.D. synonymousTLeu [L]1318
contig referenceCLeu [L]1318
1591969681164 rs768768930 0.000 missenseGArg [R]2321
missenseTLeu [L]2321
contig referenceCPro [P]2321
1591969751171 rs1430759087 N.D. synonymousGLeu [L]3323
contig referenceCLeu [L]3323
1591969781174 rs757086624 0.000byCluster synonymousTAsn [N]3324
contig referenceCAsn [N]3324
1591969921188 rs761969243 0.000 missenseTVal [V]2329
contig referenceGGly [G]2329
1591969951191 rs1376448672 N.D. missenseTIle [I]2330
contig referenceCThr [T]2330
1591969991195 rs144726021 0.000byClusterbyFreq synonymousTTyr [Y]3331
contig referenceCTyr [Y]3331
1591970021198 rs1157823828 N.D. synonymousTGly [G]3332
contig referenceCGly [G]3332
1591970141210 rs1313072290 N.D. synonymousTThr [T]3336
contig referenceCThr [T]3336
1591970211217 rs750197937 0.000 missenseGVal [V]1339
contig referenceAMet [M]1339
1591970301226 rs1238495834 N.D. missenseCHis [H]1342
contig referenceTTyr [Y]1342
1591970361232 rs762861842 0.000 missenseAThr [T]1344
contig referenceGAla [A]1344
1591970401236 rs766415491 0.000 missenseCSer [S]2345
missenseTPhe [F]2345
contig referenceATyr [Y]2345
1591970421238 rs1217955539 N.D. missenseCHis [H]1346
contig referenceTTyr [Y]1346
1591970441240 rs1235816863 N.D. synonymousTTyr [Y]3346
contig referenceCTyr [Y]3346
1591970471243 rs369136238 0.000byCluster synonymousTThr [T]3347
contig referenceCThr [T]3347
1591970551251 rs754489944 0.000 missenseGGly [G]2350
contig referenceTVal [V]2350
1591970561252 rs1161666551 N.D. synonymousCVal [V]3350
contig referenceTVal [V]3350
1591997511257 rs1469007676 N.D. missenseGGly [G]2352
contig referenceAAsp [D]2352
1591997521258 rs374461427 0.000byCluster missenseAGlu [E]3352
synonymousTAsp [D]3352
contig referenceCAsp [D]3352
1591997541260 rs1178035001 N.D. missenseTLeu [L]2353
contig referenceCPro [P]2353
1591997561262 rs755718588 0.000 missenseGGly [G]1354
contig referenceASer [S]1354
1591997601266 rs777264746 0.000byClusterbyFreq missenseGArg [R]2355
missenseTLeu [L]2355
contig referenceCPro [P]2355
1591997611267 rs753580284 0.000 synonymousAPro [P]3355
synonymousTPro [P]3355
contig referenceGPro [P]3355
1591997621268 rs945248335 N.D. missenseTLeu [L]1356
contig referenceGVal [V]1356
1591997671273 rs758709924 0.000 synonymousTPro [P]3357
contig referenceCPro [P]3357
1591997691275 rs373975634 0.000byCluster missenseTPhe [F]2358
contig referenceCSer [S]2358
1591997721278 rs747448204 0.000byFreq missenseATyr [Y]2359
missenseTPhe [F]2359
contig referenceCSer [S]2359
1591997731279 rs781751260 0.000 synonymousTSer [S]3359
contig referenceCSer [S]3359
1591997741280 rs748170877 0.000 missenseCPro [P]1360
contig referenceTSer [S]1360
1591997811287 rs1461085298 N.D. missenseTIle [I]2362
contig referenceCThr [T]2362
1591997821288 rs769956150 0.000 synonymousTThr [T]3362
contig referenceCThr [T]3362
1591997881294 rs546701904 0.000byFreqWith1000GenomeData0.0002 synonymousTHis [H]3364
contig referenceCHis [H]3364
1591997891295 rs142955742 0.000byClusterbyFreq missenseAThr [T]1365
missenseTSer [S]1365
contig referenceGAla [A]1365
1591997971303 rs774303512 0.000byFreq synonymousTIle [I]3367
contig referenceCIle [I]3367
1591997981304 rs1224156115 N.D. missenseASer [S]1368
contig referenceGGly [G]1368
1591998031309 rs759464369 0.000 synonymousTGly [G]3369
contig referenceGGly [G]3369
1591998061312 rs767354987 0.000byClusterbyFreq synonymousTIle [I]3370
contig referenceCIle [I]3370
1591998071313 rs775539880 0.000 missenseAMet [M]1371
missenseCLeu [L]1371
missenseTLeu [L]1371
contig referenceGVal [V]1371
1591998101316 rs760084983 0.000 missenseTSer [S]1372
contig referenceGAla [A]1372
1591998161322 rs763678437 0.000 missenseGVal [V]1374
contig referenceAIle [I]1374
1591998171323 rs1438166539 N.D. missenseCThr [T]2374
contig referenceTIle [I]2374
1591998271333 rs375472324 0.000byClusterbyFreq synonymousALeu [L]3377
synonymousTLeu [L]3377
contig referenceGLeu [L]3377
1591998311337 rs1043041024 N.D. missenseTPhe [F]1379
contig referenceCLeu [L]1379
1591998331339 rs766668835 0.000byFreq synonymousTLeu [L]3379
contig referenceCLeu [L]3379
1591998361342 rs1452353322 N.D. missenseGMet [M]3380
contig referenceCIle [I]3380
1591998371343 rs751809644 N.D. missenseGVal [V]1381
contig referenceAMet [M]1381
1591998381344 rs1174478413 N.D. missenseCThr [T]2381
contig referenceTMet [M]2381
1591998391345 rs368938260 0.000byClusterbyFreq missenseAIle [I]3381
contig referenceGMet [M]3381
1591998421348 rs755399770 0.001byFreq synonymousTLeu [L]3382
contig referenceCLeu [L]3382
1591998431349 rs781519418 0.000 missenseGVal [V]1383
contig referenceAIle [I]1383
1591998511357 rs862999 0.349byClusterbyFreqwith2hitWith1000GenomeData0.1689 synonymousALeu [L]3385
synonymousCLeu [L]3385
contig referenceTLeu [L]3385
1591998521358 rs3027002 0.000byClusterbyFreq missenseASer [S]1386
contig referenceGGly [G]1386
1591998541360 rs1159165963 N.D. synonymousTGly [G]3386
contig referenceCGly [G]3386
1591998581364 rs1419848072 N.D. missenseCHis [H]1388
contig referenceTTyr [Y]1388
1591998591365 rs199545197 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGCys [C]2388
contig referenceATyr [Y]2388
1591998631369 rs1322022698 N.D. missenseTPhe [F]3389
contig referenceGLeu [L]3389
1591998671373 rs749466138 0.000 missenseTTrp [W]1391
contig referenceCArg [R]1391
1591998681374 rs771266619 0.000 missenseAGln [Q]2391
contig referenceGArg [R]2391
1591998691375 rs1305560909 N.D. synonymousAArg [R]3391
contig referenceGArg [R]3391
1591998701376 rs1338483236 N.D. missenseTTyr [Y]1392
contig referenceCHis [H]1392
1591998711377 rs1244705461 N.D. missenseTLeu [L]2392
contig referenceAHis [H]2392
1592008041383 rs1445566896 N.D. missenseAGlu [E]2394
contig referenceGGly [G]2394
1592008091388 rs1369529430 N.D. missenseGAsp [D]1396
contig referenceTTyr [Y]1396
1592008141393 rs1185848628 N.D. synonymousALeu [L]3397
contig referenceGLeu [L]3397
1592008181397 rs779900801 0.000byFreq missenseAAsn [N]1399
contig referenceCHis [H]1399
1592008201399 rs746860818 0.000 missenseAGln [Q]3399
contig referenceTHis [H]3399
1592008221401 rs768622355 0.000 missenseGGly [G]2400
contig referenceAGlu [E]2400
1592008231402 rs1387225506 N.D. synonymousAGlu [E]3400
contig referenceGGlu [E]3400
1592008241403 rs367707211 0.000byCluster missenseAThr [T]1401
contig referenceGAla [A]1401
1592008321411 rs1333726120 N.D. synonymousTGly [G]3403
contig referenceCGly [G]3403
1592008351414 rs776615629 0.000byFreq synonymousTSer [S]3404
contig referenceCSer [S]3404
1592008361415 rs761281047 0.000byFreq missenseAAsn [N]1405
missenseCHis [H]1405
contig referenceGAsp [D]1405
1592008381417 rs772803114 0.000 synonymousTAsp [D]3405
contig referenceCAsp [D]3405
1592008391418 rs762671254 0.000 missenseAAsn [N]1406
contig referenceGAsp [D]1406
1592008501429 rs143855176 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTAsp [D]3409
contig referenceCAsp [D]3409
1592008511430 rs753093156 0.000 missenseAThr [T]1410
contig referenceGAla [A]1410
1592008521431 rs761014332 0.000byFreq missenseGGly [G]2410
missenseTVal [V]2410
contig referenceCAla [A]2410
1592008531432 rs754449030 0.000 synonymousAAla [A]3410
synonymousCAla [A]3410
contig referenceGAla [A]3410
1592008551434 rs1268117756 N.D. missenseGGly [G]2411
contig referenceAAsp [D]2411
1592008561435 rs1262081072 N.D. synonymousTAsp [D]3411
contig referenceCAsp [D]3411
1592008581437 rs757367378 0.000 missenseTMet [M]2412
contig referenceCThr [T]2412
1592008591438 rs35256099 0.040byClusterbyFreqWith1000GenomeData0.0204 synonymousAThr [T]3412
synonymousTThr [T]3412
contig referenceGThr [T]3412
1592008631442 rs750539202 0.000 missenseGVal [V]1414
contig referenceAIle [I]1414
1592008681447 rs146980674 0.000byCluster synonymousTIle [I]3415
contig referenceCIle [I]3415
1592008701449 rs142275248 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGSer [S]2416
contig referenceAAsn [N]2416
1592008711450 rs1200098688 N.D. synonymousCAsn [N]3416
contig referenceTAsn [N]3416
1592008721451 rs1366104046 N.D. frame shift-Arg [R]1417
contig referenceGCAla [A]1417
1592008721451 rs1477052205 N.D. missenseAThr [T]1417
contig referenceGAla [A]1417
1592008731452 rs1172096853 N.D. missenseAGlu [E]2417
contig referenceCAla [A]2417
1592008741453 rs746812774 0.000 synonymousTAla [A]3417
contig referenceAAla [A]3417
1592008751454 rs1233935764 N.D. frame shift-Ala [A]1418
contig reference(8bp)Glu [E]1418
1592008801459 rs1407021504 N.D. synonymousTGly [G]3419
contig referenceCGly [G]3419
1592008811460 rs768373502 0.000byFreq missenseAArg [R]1420
contig referenceGGly [G]1420
1592008821461 rs781083964 0.000 missenseCAla [A]2420
contig referenceGGly [G]2420
1592008831462 rs1397809932 N.D. synonymousAGly [G]3420
contig referenceGGly [G]3420
1592008871466 rs941936624 N.D. missenseCPro [P]1422
contig referenceTSer [S]1422
1592008941473 rs1304669418 N.D. missenseAGlu [E]2424
contig referenceGGly [G]2424
1592008951474 rs748105120 0.000 synonymousAGly [G]3424
contig referenceGGly [G]3424
1592008971476 rs1390654568 N.D. missenseGGly [G]2425
contig referenceAAsp [D]2425
1592008981477 rs569300786 0.000With1000GenomeData0.0002 synonymousTAsp [D]3425
contig referenceCAsp [D]3425
1592008991478 rs772723270 0.000 missenseAAsn [N]1426
contig referenceGAsp [D]1426
1592009041483 rs369450782 0.000byClusterbyFreq synonymousALys [K]3427
contig referenceGLys [K]3427
1592009091488 rs770614102 0.000 missenseCAla [A]2429
missenseGGly [G]2429
contig referenceAGlu [E]2429
1592009101489 rs773917641 0.000byFreq synonymousGGlu [E]3429
contig referenceAGlu [E]3429
1592009131492 rs761081342 0.000 nonsenseG3430
contig referenceTTyr [Y]3430
1592009181497 rs764579040 0.000byFreq missenseCThr [T]2432
contig referenceTIle [I]2432
1592009221501 rs1480496468 N.D. CTyr [Y]3433
contig referenceG3433