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SNP linked to Gene (geneID:9437) 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): 11
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011527530.2plus strandXP_011525832.1forwardNT_011109.17GRCh38.p7View snp on GeneModel
XM_011527529.2plus strandXP_011525831.1forwardNT_011109.17GRCh38.p7View snp on GeneModel
XM_011527528.2plus strandXP_011525830.1forwardNT_011109.17GRCh38.p7View snp on GeneModel
NM_004829.6plus strandNP_004820.2forwardNT_011109.17GRCh38.p7View snp on GeneModel
NM_001242357.2plus strandNP_001229286.1forwardNT_011109.17GRCh38.p7View snp on GeneModel
NM_001242357.2plus strandNP_001229286.1forwardNW_003571061.2GRCh38.p7View snp on GeneModel
NM_001242356.2plus strandNP_001229285.1forwardNT_011109.17GRCh38.p7View snp on GeneModel
NM_001145458.2plus strandNP_001138930.2forwardNT_011109.17GRCh38.p7View snp on GeneModel
NM_001145458.2plus strandNP_001138930.2forwardNW_003571061.2GRCh38.p7View snp on GeneModel
NM_001145457.2plus strandNP_001138929.2forwardNT_011109.17GRCh38.p7View snp on GeneModel
NM_001145457.2plus strandNP_001138929.2forwardNW_003571061.2GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001753801.1341, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
5490619849 rs1449775203 N.D. missenseTIle [I]24
contig referenceCThr [T]24
5490619950 rs768399684 0.000byFreq synonymousCThr [T]34
synonymousTThr [T]34
contig referenceAThr [T]34
5490621667 rs1278963993 N.D. frame shift-Arg [R]211
contig referenceGCVal [V]211
5490621768 rs371994983 0.000byCluster nonsenseA310
synonymousTCys [C]310
contig referenceCCys [C]310
5490622071 rs747728278 0.000 synonymousTVal [V]311
contig referenceCVal [V]311
5490622172 rs1345515426 N.D. missenseAArg [R]112
contig referenceGGly [G]112
5490630074 rs1261278138 N.D. synonymousTGly [G]312
contig referenceGGly [G]312
5490630579 rs769495093 N.D. missenseATyr [Y]214
contig referenceGCys [C]214
5490631387 rs764628046 N.D. missenseALys [K]117
contig referenceCGln [Q]117
5490631488 rs776604817 0.000 frame shift-Asp [D]218
contig referenceAGArg [R]218
5490631791 rs991836435 N.D. missenseALys [K]218
contig referenceGArg [R]218
5490631892 rs752139592 0.000 missenseCSer [S]318
contig referenceGArg [R]318
5490631993 rs757589826 0.000 missenseCLeu [L]119
contig referenceAIle [I]119
5490632094 rs1313979644 N.D. missenseGSer [S]219
contig referenceTIle [I]219
5490632296 rs1418616881 N.D. missenseGGly [G]120
contig referenceASer [S]120
5490632498 rs919870508 N.D. synonymousTSer [S]320
contig referenceCSer [S]320
5490632599 rs781384445 0.000byFreq missenseAThr [T]121
contig referenceGAla [A]121
54906326100 rs746281091 0.000 missenseTVal [V]221
contig referenceCAla [A]221
54906328102 rs189703314 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT122
contig referenceCGln [Q]122
54906527113 rs1281123360 N.D. synonymousCThr [T]325
contig referenceTThr [T]325
54906528114 rs1450448258 N.D. missenseAIle [I]126
contig referenceCLeu [L]126
54906533119 rs145800206 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousGPro [P]327
contig referenceAPro [P]327
54906535121 rs775802515 0.000 missenseTIle [I]228
contig referenceALys [K]228
54906539125 rs201746638 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]329
contig referenceGPro [P]329
54906540126 rs778072493 0.000byClusterbyFreq missenseGVal [V]130
contig referenceTPhe [F]130
54906541127 rs774565110 0.000byFreq missenseCSer [S]230
contig referenceTPhe [F]230
54906542128 rs958758276 N.D. synonymousTPhe [F]330
contig referenceCPhe [F]330
54906547133 rs1460489240 N.D. missenseCSer [S]232
contig referenceGTrp [W]232
54906551137 rs375917132 0.000byClusterbyFreq YessynonymousGAla [A]333
synonymousTAla [A]333
contig referenceCAla [A]333
54906552138 rs587627160 0.000With1000GenomeData0.0002 missenseALys [K]134
contig referenceGGlu [E]134
54906556142 rs1404982735 N.D. missenseAHis [H]235
contig referenceCPro [P]235
54906557143 rs1281656123 N.D. synonymousGPro [P]335
contig referenceCPro [P]335
54906558144 rs1435524304 N.D. missenseGAsp [D]136
contig referenceCHis [H]136
54906565151 rs760909649 0.000 missenseCThr [T]238
contig referenceTMet [M]238
54906571157 rs369802427 0.000byCluster YesmissenseGArg [R]240
missenseTLeu [L]240
contig referenceCPro [P]240
54906572158 rs587690574 0.001byFreqWith1000GenomeData0.0002 synonymousGPro [P]340
contig referenceAPro [P]340
54906573159 rs1184743676 N.D. missenseGGlu [E]141
contig referenceALys [K]141
54906575161 rs754249586 0.000byCluster synonymousALys [K]341
contig referenceGLys [K]341
54906576162 rs1250731832 N.D. missenseCGln [Q]142
contig referenceGGlu [E]142
54906577163 rs774807940 0.000 frame shift-Ser [S]243
contig referenceALys [K]243
54906579165 rs758015528 0.000 missenseGGlu [E]143
contig referenceALys [K]143
54906581167 rs777459871 0.000byFreq synonymousALys [K]343
contig referenceGLys [K]343
54906587173 rs1264448911 N.D. synonymousAVal [V]345
contig referenceGVal [V]345
54906589175 rs1465562258 N.D. missenseTIle [I]246
contig referenceCThr [T]246
54906591177 rs774314641 0.000 missenseGVal [V]147
contig referenceAIle [I]147
54906595181 rs756793705 0.000 missenseCSer [S]248
contig referenceGCys [C]248
54906596182 rs1475304506 N.D. nonsenseA348
contig referenceTCys [C]348
54906608194 rs780950121 0.000 synonymousCAsn [N]352
contig referenceTAsn [N]352
54906612198 rs745837582 0.000 missenseAArg [R]154
contig referenceGGly [G]154
54906614200 rs1481128012 N.D. synonymousAGly [G]354
contig referenceGGly [G]354
54906615201 rs769898323 0.000 missenseAThr [T]155
contig referenceGAla [A]155
54906616202 rs779959744 0.000byFreq missenseTVal [V]255
contig referenceCAla [A]255
54906617203 rs146763120 0.000byCluster YessynonymousAAla [A]355
synonymousCAla [A]355
contig referenceTAla [A]355
54906618204 rs1319920119 N.D. missenseCLeu [L]156
contig referenceGVal [V]156
54906626212 rs768989350 0.000 synonymousTTyr [Y]358
contig referenceCTyr [Y]358
54906628214 rs1429829985 N.D. missenseGArg [R]259
contig referenceAGln [Q]259
54906629215 rs35676942 0.013byClusterbyFreqWith1000GenomeData0.0020 YessynonymousAGln [Q]359
contig referenceGGln [Q]359
54906633219 rs587625915 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]161
missenseGAsp [D]161
missenseTTyr [Y]161
contig referenceCHis [H]161
54906636222 rs1221750449 N.D. missenseAIle [I]162
contig referenceTPhe [F]162
54906642228 rs772227066 0.000byFreq nonsenseT164
contig referenceGGly [G]164
54906645231 rs141527375 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseCArg [R]165
missenseGGly [G]165
contig referenceASer [S]165
54906646232 rs374166005 0.000byClusterbyFreq YesmissenseAAsn [N]265
contig referenceGSer [S]265
54906647233 rs1282479985 N.D. synonymousTSer [S]365
contig referenceCSer [S]365
54906648234 rs762531949 0.000 frame shiftTCys [C]168
contig reference-Ala [A]168
54906648234 rs766911986 0.000 missenseGVal [V]166
contig referenceCLeu [L]166
54906649235 rs1222852060 N.D. missenseCPro [P]266
contig referenceTLeu [L]266
54906656242 rs754198297 0.000byFreq synonymousTAla [A]368
contig referenceCAla [A]368
54906657243 rs759907409 0.000byFreq missenseAMet [M]169
contig referenceGVal [V]169
54906658244 rs763668835 0.000byFreq missenseGGly [G]269
contig referenceTVal [V]269
54906660246 rs1267512007 N.D. missenseAAsn [N]170
contig referenceGAsp [D]170
54906666252 rs756671961 0.000 missenseGAla [A]172
contig referenceCPro [P]172
54906668254 rs150473795 0.001byClusterbyFreqWith1000GenomeData0.0014 YessynonymousGPro [P]372
contig referenceAPro [P]372
54906671257 rs201216810 0.000byClusterbyFreq YessynonymousGLys [K]373
contig referenceALys [K]373
54906672258 rs943790324 N.D. missenseGAla [A]174
contig referenceCPro [P]174
54906676262 rs138339976 0.000byClusterbyFreq YesmissenseGArg [R]275
contig referenceCPro [P]275
54906677263 rs1367225723 N.D. synonymousCPro [P]375
contig referenceTPro [P]375
54906678264 rs375177680 0.000byClusterbyFreq YesmissenseALys [K]176
contig referenceGGlu [E]176
54906681267 rs142746677 0.000byClusterbyFreq YesmissenseGGly [G]177
missenseTTrp [W]177
contig referenceCArg [R]177
54906682268 rs754829346 0.000byFreq missenseAGln [Q]277
missenseTLeu [L]277
contig referenceGArg [R]277
54906683269 rs1259924492 N.D. synonymousCArg [R]377
contig referenceGArg [R]377
54906688274 rs34030790 0.028byCluster YesmissenseGSer [S]279
contig referenceAAsn [N]279
54906690276 rs146073962 0.000byClusterbyFreq YesmissenseGGlu [E]180
contig referenceALys [K]180
54906693279 rs1277996576 N.D. missenseAIle [I]181
contig referenceGVal [V]181
54906695281 rs1316031017 N.D. synonymousGVal [V]381
contig referenceCVal [V]381
54906696282 rs2278428 0.230byClusterbyFreqWith1000GenomeData0.1767 YesmissenseALys [K]182
missenseALys [K]182
missenseALys [K]182
missenseALys [K]182
missenseALys [K]182
contig referenceCGln [Q]182
contig referenceCGln [Q]182
contig referenceCGln [Q]182
contig referenceCGln [Q]182
contig referenceCGln [Q]182
54906699285 rs1229112620 N.D. missenseCLeu [L]183
contig referenceTPhe [F]183
54906704290 rs772234312 0.000 nonsenseA384
contig referenceCTyr [Y]384
54906706292 rs747922292 N.D.byCluster missenseCThr [T]285
contig referenceTIle [I]285
54906709295 rs377608629 0.000byClusterbyFreq YesmissenseTLeu [L]286
contig referenceCPro [P]286
54906710296 rs587697787 0.000With1000GenomeData0.0002 synonymousAPro [P]386
contig referenceGPro [P]386
54906713299 rs771369272 0.000 synonymousTAsp [D]387
contig referenceCAsp [D]387
54906716302 rs764218143 N.D. missenseAIle [I]388
contig referenceGMet [M]388
54906719305 rs1157169103 N.D. missenseALys [K]389
contig referenceCAsn [N]389
54906720306 rs1405172419 N.D. frame shiftCPro [P]191
contig reference-Arg [R]191
54906723309 rs777127236 0.000byFreq missenseTCys [C]191
contig referenceCArg [R]191
54906724310 rs114139466 0.001byClusterbyFreqWith1000GenomeData0.0014 YesmissenseAHis [H]291
missenseCPro [P]291
missenseTLeu [L]291
contig referenceGArg [R]291
54906727313 rs144737108 0.002byClusterbyFreqWith1000GenomeData0.0042 YesmissenseCThr [T]292
contig referenceTMet [M]292
54906728314 rs761492085 0.000byFreq missenseCIle [I]392
contig referenceGMet [M]392
54906731317 rs587708731 0.000byFreqWith1000GenomeData0.0004 synonymousGAla [A]393
contig referenceAAla [A]393
54906732318 rs749932090 0.000byFreq missenseAArg [R]194
contig referenceGGly [G]194
54906733319 rs1386806761 N.D. missenseAGlu [E]294
contig referenceGGly [G]294
54906734320 rs370957633 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGly [G]394
contig referenceGGly [G]394
54906737323 rs766354546 0.000 synonymousGGln [Q]395
contig referenceAGln [Q]395
54906741327 rs1371157154 N.D. missenseCArg [R]197
contig referenceASer [S]197
54906742328 rs753861648 0.000 missenseCThr [T]297
contig referenceGSer [S]297
54906747333 rs1326866209 N.D. missenseGVal [V]199
contig referenceAIle [I]199
54906748334 rs754774319 0.000byClusterbyFreq missenseGSer [S]299
contig referenceTIle [I]299
54906749335 rs1448982227 N.D. synonymousTIle [I]399
contig referenceCIle [I]399
54906751337 rs200377570 0.000byClusterbyFreq YesmissenseGCys [C]2100
contig referenceATyr [Y]2100
54906753339 rs587662425 0.000byFreqWith1000GenomeData0.0002 synonymousAArg [R]1101
contig referenceCArg [R]1101
54906754340 rs758643557 0.000 missenseAGln [Q]2101
contig referenceGArg [R]2101
54906757343 rs777916772 0.000 missenseCAla [A]2102
contig referenceTVal [V]2102
54906758344 rs747023317 0.000byFreq synonymousAVal [V]3102
synonymousGVal [V]3102
contig referenceTVal [V]3102
54906765351 rs1292699042 N.D. missenseGVal [V]1105
contig referenceCLeu [L]1105
54906767353 rs777074039 0.000 synonymousGLeu [L]3105
contig referenceCLeu [L]3105
54906774360 rs1194601045 N.D. missenseCGln [Q]1108
contig referenceGGlu [E]1108
54906778364 rs1270193838 N.D. missenseAHis [H]2109
contig referenceCPro [P]2109
54906783369 rs1436743048 N.D. missenseGAsp [D]1111
contig referenceAAsn [N]1111
54906786372 rs746351301 0.000 missenseGVal [V]1112
contig referenceTLeu [L]1112
54906787373 rs148445950 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCSer [S]2112
contig referenceTLeu [L]2112
54906791377 rs201331285 0.000byCluster YessynonymousALeu [L]3113
synonymousCLeu [L]3113
contig referenceGLeu [L]3113
54906792378 rs1182815930 N.D. missenseTTyr [Y]1114
contig referenceGAsp [D]1114
54906793379 rs763283115 0.000 missenseTVal [V]2114
contig referenceAAsp [D]2114
54906797383 rs1228304424 N.D. frame shift-Trp [W]3116
contig referenceGVal [V]3116
54906800386 rs1027474558 N.D. synonymousAVal [V]3116
contig referenceGVal [V]3116
54906804390 rs142329175 0.000byClusterWith1000GenomeData0.0002 YesmissenseGAla [A]1118
contig referenceAThr [T]1118
54906807393 rs1443286712 N.D. missenseALys [K]1119
contig referenceGGlu [E]1119
54909247396 rs1201508229 N.D. missenseCLeu [L]1120
contig referenceAMet [M]1120
54909251400 rs1218798656 N.D. missenseGCys [C]2121
contig referenceATyr [Y]2121
54909254403 rs375341656 0.000byCluster YesmissenseGGly [G]2122
contig referenceAAsp [D]2122
54909255404 rs1480177953 N.D. synonymousTAsp [D]3122
contig referenceCAsp [D]3122
54909257406 rs762758923 0.000 missenseTIle [I]2123
contig referenceCThr [T]2123
54909259408 rs763854595 0.000 missenseTSer [S]1124
contig referenceCPro [P]1124
54909260409 rs916836111 N.D. missenseTLeu [L]2124
contig referenceCPro [P]2124
54909261410 rs587755795 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]3124
contig referenceCPro [P]3124
54909263412 rs757462926 0.000 missenseTIle [I]2125
contig referenceCThr [T]2125
54909265414 rs763579760 0.000 frame shift-Gly [G]1127
contig referenceCTSer [S]1127
54909266415 rs1407249934 N.D. missenseGArg [R]2126
contig referenceTLeu [L]2126
54909267416 rs781447230 0.000 synonymousTLeu [L]3126
contig referenceCLeu [L]3126
54909269418 rs142626797 0.000byClusterWith1000GenomeData0.0002 YesnonsenseA2127
missenseTLeu [L]2127
contig referenceCSer [S]2127
54909270419 rs367914877 0.000byClusterbyFreq YessynonymousASer [S]3127
synonymousCSer [S]3127
contig referenceGSer [S]3127
54909271420 rs1307260568 N.D. missenseTPhe [F]1128
contig referenceGVal [V]1128
54909273422 rs780574286 0.000 synonymousAVal [V]3128
contig referenceTVal [V]3128
54909274423 rs749784686 0.000 missenseTTyr [Y]1129
contig referenceCHis [H]1129
54909279428 rs760572362 0.000byFreq synonymousCPro [P]3130
contig referenceTPro [P]3130
54909282431 rs1259862862 N.D. synonymousTGly [G]3131
contig referenceAGly [G]3131
54909283432 rs779393949 0.000 missenseTSer [S]1132
contig referenceCPro [P]1132
54909285434 rs748590677 0.000byFreq synonymousGPro [P]3132
synonymousTPro [P]3132
contig referenceCPro [P]3132
54909286435 rs73619955 0.001byClusterbyFreqWith1000GenomeData0.0014 YesmissenseALys [K]1133
missenseCGln [Q]1133
contig referenceGGlu [E]1133
54909288437 rs1401530227 N.D. missenseTAsp [D]3133
contig referenceAGlu [E]3133
54909295444 rs759045498 0.000byFreq missenseAThr [T]1136
contig referenceTSer [S]1136
54909296445 rs769207424 0.000 missenseTLeu [L]2136
contig referenceCSer [S]2136
54909297446 rs371446960 0.000byClusterbyFreq YessynonymousASer [S]3136
synonymousTSer [S]3136
contig referenceGSer [S]3136
54909298447 rs1161818978 N.D. missenseAArg [R]1137
contig referenceGGly [G]1137
54909303452 rs764081529 0.000byFreq missenseTAsp [D]3138
contig referenceGGlu [E]3138
54909304453 rs774114653 0.000 nonsenseT1139
contig referenceALys [K]1139
54909305454 rs761608067 0.000byFreq missenseTMet [M]2139
contig referenceALys [K]2139
54909306455 rs767656063 0.000byFreq missenseTAsn [N]3139
synonymousALys [K]3139
contig referenceGLys [K]3139
54909312461 rs200796519 0.000byClusterbyFreq YessynonymousGThr [T]3141
synonymousTThr [T]3141
contig referenceCThr [T]3141
54909312461 rs751201572 0.000 -3142
54909317466 rs766351680 0.000 missenseGCys [C]2143
contig referenceATyr [Y]2143
54909319468 rs753994232 0.000 missenseGGly [G]1144
contig referenceTCys [C]1144
54909323472 rs755538494 0.000byFreq missenseAHis [H]2145
contig referenceGArg [R]2145
54909328477 rs1374888947 N.D. missenseTTyr [Y]1147
contig referenceGAsp [D]1147
54909330479 rs1196098959 N.D. synonymousTAsp [D]3147
contig referenceCAsp [D]3147
54909331480 rs779621907 0.000 missenseCPro [P]1148
missenseGAla [A]1148
contig referenceAThr [T]1148
54909334483 rs748467854 0.000 missenseAThr [T]1149
contig referenceGAla [A]1149
54909341490 rs587765719 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]2151
missenseTIle [I]2151
contig referenceGSer [S]2151
54909343492 rs78373078 N.D.byCluster YesmissenseGVal [V]1152
contig referenceAMet [M]1152
54909347496 rs1203518990 N.D. missenseCSer [S]2153
contig referenceTPhe [F]2153
54909348497 rs745485074 0.000 synonymousTPhe [F]3153
contig referenceCPhe [F]3153
54909350499 rs1337524459 N.D. missenseCSer [S]2154
contig referenceTLeu [L]2154
54909352501 rs1312811299 N.D. synonymousTLeu [L]1155
contig referenceCLeu [L]1155
54909353502 rs1358565777 N.D. missenseAGln [Q]2155
contig referenceTLeu [L]2155
54909355504 rs1205141597 N.D. missenseTPhe [F]1156
contig referenceCLeu [L]1156
54909358507 rs769525855 0.000 missenseCGln [Q]1157
contig referenceALys [K]1157
54909365514 rs774857066 0.000 missenseAGlu [E]2159
contig referenceGGly [G]2159
54909368517 rs1381941948 N.D. missenseALys [K]2160
contig referenceGArg [R]2160
54909370519 rs748883373 0.000byFreq missenseAThr [T]1161
contig referenceTSer [S]1161
54909370519 rs1243693071 N.D. frame shift-Arg [R]1162
contig reference(31bp)Ser [S]1162
54909371520 rs1042065408 N.D. missenseTPhe [F]2161
contig referenceCSer [S]2161
54909378527 rs768519312 0.000byClusterbyFreq missenseGGln [Q]3163
synonymousTHis [H]3163
contig referenceCHis [H]3163
54909379528 rs199912363 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1164
missenseCLeu [L]1164
contig referenceGVal [V]1164
54909382531 rs1385020306 N.D. missenseGGlu [E]1165
contig referenceCGln [Q]1165
54909383532 rs767326606 0.000byFreq missenseGArg [R]2165
contig referenceAGln [Q]2165
54909386535 rs139654571 0.000byClusterbyFreq YesmissenseAHis [H]2166
contig referenceGArg [R]2166
54909387536 rs587711577 0.000byFreqWith1000GenomeData0.0002 synonymousAArg [R]3166
synonymousTArg [R]3166
contig referenceCArg [R]3166
54909388537 rs369920502 0.000byCluster YesmissenseAArg [R]1167
contig referenceGGly [G]1167
54909390539 rs144194474 0.000byClusterbyFreq YessynonymousCGly [G]3167
contig referenceAGly [G]3167
54909391540 rs755122722 0.000 missenseCHis [H]1168
contig referenceTTyr [Y]1168
54909392541 rs1339857674 N.D. missenseTPhe [F]2168
contig referenceATyr [Y]2168
54909393542 rs765774550 0.000byFreq nonsenseG3168
synonymousTTyr [Y]3168
contig referenceCTyr [Y]3168
54909394543 rs966441909 N.D. missenseAArg [R]1169
contig referenceGGly [G]1169
54909405554 rs1381808599 N.D. missenseCHis [H]3172
synonymousAGln [Q]3172
contig referenceGGln [Q]3172
54909406555 rs1215038099 N.D. missenseAThr [T]1173
contig referenceGAla [A]1173
54909407556 rs759022000 0.000byFreq missenseAGlu [E]2173
missenseTVal [V]2173
contig referenceCAla [A]2173
54909408557 rs368475827 0.000byClusterbyFreq YessynonymousAAla [A]3173
contig referenceGAla [A]3173
54909410559 rs1226876542 N.D. missenseGGly [G]2174
contig referenceAGlu [E]2174
54909411560 rs1038269692 N.D. synonymousAGlu [E]3174
contig referenceGGlu [E]3174
54909412561 rs147784405 0.000byClusterbyFreq YesmissenseAIle [I]1175
missenseCLeu [L]1175
contig referenceTPhe [F]1175
54909414563 rs755704753 0.000 missenseALeu [L]3175
contig referenceCPhe [F]3175
54909417566 rs1191058334 N.D. synonymousTPro [P]3176
contig referenceCPro [P]3176
54909418567 rs1453420098 N.D. missenseAMet [M]1177
contig referenceCLeu [L]1177
54909419568 rs761503764 0.000 frame shift-Arg [R]2177
contig referenceTLeu [L]2177
54909419568 rs779766280 0.000 missenseGArg [R]2177
contig referenceTLeu [L]2177
54909421570 rs1268218670 N.D. missenseASer [S]1178
contig referenceGGly [G]1178
54909422571 rs1486412654 N.D. missenseAAsp [D]2178
contig referenceGGly [G]2178
54909428577 rs748726580 0.000byCluster missenseAGlu [E]2180
contig referenceTVal [V]2180
54909429578 rs1467559005 N.D. synonymousTVal [V]3180
contig referenceGVal [V]3180
54909437586 rs587594109 0.000With1000GenomeData0.0002 missenseTVal [V]2183
contig referenceCAla [A]2183
54909441590 rs1418069638 N.D. missenseGGln [Q]3184
contig referenceCHis [H]3184
54909442591 rs3765013 0.448byClusterbyFreqwith2hitWith1000GenomeData0.4832 YesnonsenseT1185
synonymousCArg [R]1185
contig referenceAArg [R]1185
54909443592 rs763296705 0.000byFreq missenseALys [K]2185
contig referenceGArg [R]2185
54909445594 rs1269233708 N.D. frame shift-Asp [D]1186
contig referenceGGGly [G]1186
54909453602 rs1429382098 N.D. nonsenseA3188
contig referenceCTyr [Y]3188
54909454603 rs1470728864 N.D. nonsenseT1189
contig referenceCArg [R]1189
54909455604 rs772041783 0.000byFreq missenseAGln [Q]2189
contig referenceGArg [R]2189
54909457606 rs767836449 0.000 frame shift-Val [V]1190
contig referenceTCys [C]1190
54909461610 rs1431252383 N.D. missenseCSer [S]2191
contig referenceTPhe [F]2191
54909464613 rs772883300 0.000 missenseAAsp [D]2192
contig referenceGGly [G]2192
54909465614 rs760576635 0.000 synonymousTGly [G]3192
contig referenceCGly [G]3192
54909468617 rs1381594441 N.D. synonymousASer [S]3193
contig referenceCSer [S]3193
54909469618 rs1283932287 N.D. missenseGAsp [D]1194
contig referenceTTyr [Y]1194
54909470619 rs1440038903 N.D. missenseGCys [C]2194
contig referenceATyr [Y]2194
54909472621 rs1325800259 N.D. missenseGAsp [D]1195
contig referenceAAsn [N]1195
54909474623 rs1221864271 N.D. missenseALys [K]3195
contig referenceCAsn [N]3195
54909477626 rs1262811753 N.D. synonymousTAsn [N]3196
contig referenceCAsn [N]3196
54909478627 rs765401336 N.D.byCluster missenseGAsp [D]1197
contig referenceCHis [H]1197
54909488637 rs771001948 0.000byFreq missenseTPhe [F]2200
contig referenceCSer [S]2200
54909489638 rs1333056972 N.D. synonymousCSer [S]3200
contig referenceTSer [S]3200
54909493642 rs776918256 0.000 missenseTSer [S]1202
contig referenceCPro [P]1202
54909494643 rs1485787428 N.D. missenseTLeu [L]2202
contig referenceCPro [P]2202
54909495644 rs1200814954 N.D. synonymousTPro [P]3202
contig referenceCPro [P]3202
54909499648 rs759650681 0.000byFreq missenseALys [K]1204
contig referenceGGlu [E]1204
54909501650 rs991408863 N.D. synonymousAGlu [E]3204
contig referenceGGlu [E]3204
54909503652 rs1475963369 N.D. missenseTLeu [L]2205
contig referenceCPro [P]2205
54909504653 rs765384338 0.000 synonymousGPro [P]3205
contig referenceAPro [P]3205
54909507656 rs1173773762 N.D. synonymousAVal [V]3206
contig referenceGVal [V]3206
54909511660 rs374599414 N.D.byCluster YesmissenseTPhe [F]1208
contig referenceCLeu [L]1208
54909513662 rs752863000 0.000byFreq synonymousTLeu [L]3208
contig referenceCLeu [L]3208
54909520669 rs200495896 0.000byCluster YesmissenseCPro [P]1211
contig referenceAThr [T]1211
54910019674 rs770811879 0.000byFreq synonymousAGly [G]3212
synonymousTGly [G]3212
contig referenceCGly [G]3212
54910020675 rs781129363 0.000byFreq missenseAAsn [N]1213
contig referenceGAsp [D]1213
54910022677 rs1192903441 N.D. synonymousTAsp [D]3213
contig referenceCAsp [D]3213
54910023678 rs145090790 0.000byClusterbyFreqWith1000GenomeData YesmissenseCLeu [L]1214
missenseGVal [V]1214
contig referenceAIle [I]1214
54910024679 rs770083321 0.000 missenseCThr [T]2214
contig referenceTIle [I]2214
54910026681 rs775855444 0.000byFreq missenseALys [K]1215
contig referenceGGlu [E]1215
54910027682 rs200970446 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGly [G]2215
contig referenceAGlu [E]2215
54910028683 rs34794309 N.D. Yesframe shiftALys [K]3216
contig reference-Asn [N]3216
54910031686 rs768800255 0.000byFreq synonymousTAsn [N]3216
contig referenceCAsn [N]3216
54910032687 rs754367043 0.000 CCAGCC [PS]1218
54910033688 rs587657657 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]2217
missenseGSer [S]2217
missenseTIle [I]2217
contig referenceCThr [T]2217
54910036691 rs1327096323 N.D. missenseAAsn [N]2218
contig referenceGSer [S]2218
54910050705 rs377077669 N.D. YesmissenseCHis [H]1223
contig referenceGAsp [D]1223
54910055710 rs767978925 0.000byFreq synonymousTPro [P]3224
contig referenceCPro [P]3224
54910056711 rs773556894 0.000 missenseGAla [A]1225
contig referenceAThr [T]1225
54910057712 rs761045990 0.000 missenseTIle [I]2225
contig referenceCThr [T]2225
54910059714 rs1165443777 N.D. missenseCLeu [L]1226
contig referenceTPhe [F]1226
54910061716 rs1381083437 N.D. synonymousCPhe [F]3226
contig referenceTPhe [F]3226
54910065720 rs1244638547 N.D. missenseAAsn [N]1228
contig referenceGAsp [D]1228
54912173723 rs776911191 0.000byFreq missenseGAla [A]1229
contig referenceAThr [T]1229
54912174724 rs370635964 0.000byCluster YesmissenseTIle [I]2229
contig referenceCThr [T]2229
54912175725 rs763710541 0.000byFreq synonymousCThr [T]3229
contig referenceTThr [T]3229
54912176726 rs1048027251 N.D. missenseCArg [R]1230
contig referenceTTrp [W]1230
54912177727 rs751023312 0.000 nonsenseA2230
contig referenceGTrp [W]2230
54912180730 rs756724930 0.000 missenseAAsp [D]2231
contig referenceGGly [G]2231
54912181731 rs1201824568 N.D. synonymousGGly [G]3231
contig referenceCGly [G]3231
54912183733 rs1427551512 N.D. missenseTIle [I]2232
contig referenceCThr [T]2232
54912184734 rs1465846044 N.D. synonymousGThr [T]3232
contig referenceCThr [T]3232
54912187737 rs200417008 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseA3233
contig referenceCTyr [Y]3233
54912188738 rs1387632984 N.D. missenseTPhe [F]1234
contig referenceCLeu [L]1234
54912200750 rs1399411807 N.D. missenseALys [K]1238
contig referenceGGlu [E]1238
54912202752 rs750405446 0.000 synonymousAGlu [E]3238
contig referenceGGlu [E]3238
54912203753 rs1339235878 N.D. missenseGAla [A]1239
contig referenceAThr [T]1239
54912204754 rs756166596 0.000byFreq missenseTMet [M]2239
contig referenceCThr [T]2239
54912205755 rs779961774 0.000 synonymousAThr [T]3239
contig referenceGThr [T]3239
54912211761 rs1328937636 N.D. synonymousALeu [L]3241
contig referenceCLeu [L]3241
54912216766 rs749106316 0.000 missenseCThr [T]2243
contig referenceALys [K]2243
54912217767 rs755217346 0.000byFreq missenseTAsn [N]3243
synonymousGLys [K]3243
contig referenceALys [K]3243
54912218768 rs1209544071 N.D. missenseCHis [H]1244
contig referenceGAsp [D]1244
54912690769 rs1457006934 N.D. missenseGGly [G]2244
contig referenceAAsp [D]2244
54912696775 rs1469510163 N.D. missenseTVal [V]2246
contig referenceCAla [A]2246
54912697776 rs775971074 0.000 synonymousAAla [A]3246
contig referenceCAla [A]3246
54912698777 rs761524156 0.000 missenseTPhe [F]1247
contig referenceCLeu [L]1247
54912699778 rs1460093707 N.D. missenseGArg [R]2247
contig referenceTLeu [L]2247
54912701780 rs944485967 N.D. missenseCArg [R]1248
contig referenceTTrp [W]1248
54912707786 rs974583068 N.D. missenseGAsp [D]1250
contig referenceCHis [H]1250
54912711790 rs1444143764 N.D. missenseGSer [S]2251
contig referenceCThr [T]2251
54912714793 rs771914760 0.000 missenseTVal [V]2252
contig referenceCAla [A]2252
54912715794 rs1383281991 N.D. synonymousGAla [A]3252
contig referenceCAla [A]3252
54912718797 rs772836991 0.000 synonymousAGln [Q]3253
contig referenceGGln [Q]3253
54912720799 rs375046700 0.000byCluster YesmissenseGSer [S]2254
contig referenceAAsn [N]2254
54912724803 rs1321191576 N.D. frame shift-Phe [F]3256
contig referenceCLeu [L]3256
54912727806 rs1266209863 N.D. synonymousALeu [L]3256
contig referenceTLeu [L]3256
54912728807 rs766273248 0.000byCluster missenseTTrp [W]1257
contig referenceCArg [R]1257
54912729808 rs1253161777 N.D. missenseAGln [Q]2257
contig referenceGArg [R]2257
54912741820 rs753750280 0.000 missenseAAsp [D]2261
contig referenceCAla [A]2261
54912749828 rs759330355 0.000 missenseTPhe [F]1264
contig referenceGVal [V]1264
54912754833 rs764922997 0.000 synonymousTLeu [L]3265
contig referenceGLeu [L]3265
54912755834 rs1462974466 N.D. missenseCLeu [L]1266
contig referenceGVal [V]1266
54912758837 rs752531481 0.000byFreq missenseTSer [S]1267
contig referenceGAla [A]1267
54912761840 rs1256151954 N.D. missenseGVal [V]1268
contig referenceCLeu [L]1268
54912764843 rs1422719067 N.D. missenseCLeu [L]1269
contig referenceGVal [V]1269
54912768847 rs867379345 N.D. nonsenseA2270
contig referenceGTrp [W]2270
54912773852 rs758617765 0.000 missenseAMet [M]1272
contig referenceCLeu [L]1272
54912776855 rs202154415 0.000byClusterWith1000GenomeData0.0002 missenseTPhe [F]1273
contig referenceGVal [V]1273
54912782861 rs1193866466 N.D. missenseCHis [H]1275
contig referenceGAsp [D]1275
54912783862 rs751568837 0.000 missenseCAla [A]2275
contig referenceAAsp [D]2275
54912788867 rs1169577838 N.D. missenseTPhe [F]1277
contig referenceCLeu [L]1277
54912799878 rs1406498976 N.D. synonymousALys [K]3280
contig referenceGLys [K]3280
54912802881 rs757354814 0.000byClusterbyFreq synonymousAArg [R]3281
contig referenceGArg [R]3281
54912804883 rs781688893 0.000 missenseAAsn [N]2282
contig referenceCThr [T]2282
54912807886 rs746337658 0.000byFreq missenseALys [K]2283
missenseCThr [T]2283
contig referenceGArg [R]2283
54912808887 rs368087989 0.000byCluster missenseTSer [S]3283
contig referenceAArg [R]3283
54912809888 rs780275656 0.000byFreq missenseALys [K]1284
contig referenceGGlu [E]1284
54912810889 rs1290318561 N.D. missenseCAla [A]2284
contig referenceAGlu [E]2284
54912812891 rs866566742 N.D.byCluster nonsenseT1285
contig referenceCArg [R]1285
54912813892 rs749730930 0.000byFreq missenseAGln [Q]2285
contig referenceGArg [R]2285
54912822901 rs1264033798 N.D. missenseALys [K]2288
contig referenceGArg [R]2288
54912824903 rs771794035 0.000byFreq missenseAThr [T]1289
missenseTSer [S]1289
contig referenceGAla [A]1289
54912831910 rs746478849 0.000 missenseAAsn [N]2291
contig referenceCThr [T]2291
54912833912 rs200665059 N.D. -1292
54912834913 rs770374506 0.000 missenseCSer [S]2292
contig referenceGTrp [W]2292
54912834913 rs866115463 N.D.byCluster GAALys [K]2292
54912835914 rs1312637813 N.D. GAAGlu [E]3293
54912836915 rs148883071 0.039byClusterbyFreqWith1000GenomeData0.0284 -1293
54912836915 rs1045866790 N.D. missenseALys [K]1293
contig referenceGGlu [E]1293
54912840919 rs1188836860 N.D. missenseAAsp [D]2294
contig referenceGGly [G]2294
54912842921 rs371941780 0.000byCluster missenseGGly [G]1295
contig referenceAArg [R]1295
54912843922 rs1468986414 N.D. missenseALys [K]2295
contig referenceGArg [R]2295
54912844923 rs374510672 0.000byClusterbyFreq synonymousAArg [R]3295
contig referenceGArg [R]3295
54912847926 rs765287999 0.000 synonymousGArg [R]3296
contig referenceAArg [R]3296
54912849928 rs1025303682 N.D. missenseTMet [M]2297
contig referenceGArg [R]2297
54912850929 rs1429624085 N.D. synonymousAArg [R]3297
contig referenceGArg [R]3297
54912856935 rs147381767 0.000With1000GenomeData0.0002 missenseALys [K]3299
contig referenceCAsn [N]3299
54912862941 rs373970472 0.000byClusterbyFreq missenseCHis [H]3301
synonymousAGln [Q]3301
contig referenceGGln [Q]3301
54912864943 rs1173610812 N.D. missenseAAsn [N]2302
contig referenceCThr [T]2302
54912865944 rs1358394475 N.D. synonymousCThr [T]3302
contig referenceTThr [T]3302
54912868947 rs371565402 0.000byClusterbyFreq synonymousCLeu [L]3303
contig referenceTLeu [L]3303
549130561135 rs200857637 0.490byClusterbyFreqWith1000GenomeData0.4303 -
549130691148 rs1220958668 N.D. -

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