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SNP linked to Gene (geneID:3732) 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): 4
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011520067.2plus strandXP_011518369.1forwardNT_009237.19GRCh38.p7<- currently shown
XM_006718223.2plus strandXP_006718286.1forwardNT_009237.19GRCh38.p7View snp on GeneModel
NM_002231.3plus strandNP_002222.1forwardNT_009237.19GRCh38.p7View snp on GeneModel
NM_001024844.1plus strandNP_001020015.1forwardNT_009237.19GRCh38.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_009237.19XM_011520067.2XP_011518369.1forwardplus strand333, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
44594663249 rs765963603 0.000byFreq missenseGVal [V]11
missenseTLeu [L]11
contig referenceAMet [M]11
44594664250 rs1178043418 N.D. missenseGArg [R]21
contig referenceTMet [M]21
44594666252 rs111718702 0.000byClusterbyFreq missenseASer [S]12
contig referenceGGly [G]12
44594667253 rs767017762 0.000 missenseAAsp [D]22
contig referenceGGly [G]22
44594668254 rs1300983571 N.D. synonymousGGly [G]32
contig referenceCGly [G]32
44594670256 rs752510747 0.000byFreq missenseTLeu [L]23
contig referenceCSer [S]23
44594676262 rs1391787617 N.D. missenseCSer [S]25
contig referenceGCys [C]25
44594699285 rs761257124 0.000byCluster missenseAIle [I]113
contig referenceCLeu [L]113
44594701287 rs777513108 0.000 synonymousALeu [L]313
contig referenceCLeu [L]313
44594704290 rs749268925 0.000 missenseALeu [L]314
contig referenceCPhe [F]314
44594710296 rs1284077486 N.D. missenseGLeu [L]316
contig referenceCPhe [F]316
44594714300 rs752146609 0.000byClusterbyFreq synonymousCLeu [L]118
contig referenceTLeu [L]118
44594718304 rs1208051364 N.D. -221
44594719305 rs372259856 0.000byClusterbyFreq synonymousAIle [I]319
contig referenceCIle [I]319
44594723309 rs925491419 N.D. missenseCLeu [L]121
contig referenceTPhe [F]121
44594725311 rs897859805 N.D. synonymousCPhe [F]321
contig referenceTPhe [F]321
44600160314 rs774679121 0.000 synonymousTIle [I]322
contig referenceCIle [I]322
44600161315 rs945193697 N.D. synonymousTLeu [L]123
contig referenceCLeu [L]123
44600164318 rs760055528 0.000byFreq missenseASer [S]124
contig referenceGGly [G]124
44600166320 rs535717592 0.000byFreqWith1000GenomeData0.0002 synonymousTGly [G]324
contig referenceCGly [G]324
44600167321 rs774964064 0.000 missenseAThr [T]125
contig referenceGAla [A]125
44600169323 rs760383801 0.000byFreq synonymousGAla [A]325
contig referenceAAla [A]325
44600170324 rs1207570613 N.D. missenseAMet [M]126
contig referenceGVal [V]126
44600171325 rs749539429 N.D. missenseCAla [A]226
contig referenceTVal [V]226
44600175329 rs1462648169 N.D. synonymousTIle [I]327
contig referenceCIle [I]327
44600180334 rs763666572 0.000 missenseCAla [A]229
contig referenceGGly [G]229
44600182336 rs1230959270 N.D. missenseGVal [V]130
contig referenceTPhe [F]130
44600184338 rs1178482808 N.D. synonymousTPhe [F]330
contig referenceCPhe [F]330
44600185339 rs554121820 0.000byFreqWith1000GenomeData0.0002 missenseAArg [R]131
contig referenceGGly [G]131
44600187341 rs761468393 0.000 synonymousAGly [G]331
contig referenceGGly [G]331
44600188342 rs1178689384 N.D. missenseAMet [M]132
contig referenceGVal [V]132
44600189343 rs148396643 0.000 missenseCAla [A]232
contig referenceTVal [V]232
44600191345 rs1278253973 N.D. missenseCArg [R]133
contig referenceTTrp [W]133
44600198352 rs377535419 0.000byCluster missenseCPro [P]235
contig referenceTLeu [L]235
44600202356 rs138833231 0.004byClusterbyFreqWith1000GenomeData0.0010 synonymousTAla [A]336
contig referenceCAla [A]336
44600203357 rs758337930 0.000byFreq missenseAAsn [N]137
missenseCHis [H]137
missenseTTyr [Y]137
contig referenceGAsp [D]137
44600206360 rs1458166700 N.D. frame shift-Glu [E]138
contig referenceAALys [K]138
44600210364 rs1394050705 N.D. missenseAAsn [N]239
contig referenceGSer [S]239
44600213367 rs781480823 0.000byFreq missenseAAsn [N]240
missenseCThr [T]240
contig referenceGSer [S]240
44600216370 rs1000615015 N.D. missenseATyr [Y]241
missenseCSer [S]241
contig referenceTPhe [F]241
44600218372 rs756411683 0.000byClusterbyFreq missenseGVal [V]142
contig referenceAIle [I]142
44600224378 rs778085878 0.000 missenseAIle [I]144
contig referenceGVal [V]144
44600230384 rs150533529 0.000byClusterbyFreq nonsenseT146
contig referenceCGln [Q]146
44605062389 rs1475814571 N.D. synonymousAThr [T]347
contig referenceCThr [T]347
44605064391 rs752840514 0.000 missenseTPhe [F]248
contig referenceCSer [S]248
44605065392 rs1233351771 N.D. synonymousTSer [S]348
contig referenceCSer [S]348
44605073400 rs139889503 0.000byClusterbyFreq nonsenseA251
missenseTLeu [L]251
contig referenceCSer [S]251
44605074401 rs777966335 0.000 synonymousASer [S]351
synonymousCSer [S]351
contig referenceGSer [S]351
44605077404 rs374050393 0.000 synonymousCLeu [L]352
contig referenceTLeu [L]352
44605080407 rs201294710 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTSer [S]353
contig referenceGArg [R]353
44605082409 rs1275138501 N.D. frame shiftGGly [G]256
contig reference-Ala [A]256
44605086413 rs1482594040 N.D. synonymousCGly [G]355
contig referenceGGly [G]355
44605088415 rs1202702298 N.D. missenseAAsp [D]256
contig referenceCAla [A]256
44605090417 rs371929631 0.000byCluster missenseCHis [H]157
contig referenceTTyr [Y]157
44605092419 rs143270517 0.000byClusterbyFreqWith1000GenomeData0.0004 nonsenseA357
synonymousCTyr [Y]357
contig referenceTTyr [Y]357
44605093420 rs375078073 0.000byClusterbyFreq missenseAIle [I]158
contig referenceGVal [V]158
44605099426 rs1289211545 N.D. missenseGVal [V]160
contig referenceAIle [I]160
44605101428 rs146594387 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGMet [M]360
synonymousTIle [I]360
contig referenceCIle [I]360
44605103430 rs1476696241 N.D. missenseTVal [V]261
contig referenceGGly [G]261
44605104431 rs372931321 0.000byClusterbyFreq synonymousAGly [G]361
synonymousGGly [G]361
contig referenceCGly [G]361
44605105432 rs1339483186 N.D. missenseAMet [M]162
contig referenceGVal [V]162
44605107434 rs34170190 0.007byClusterbyFreqWith1000GenomeData0.0110 synonymousAVal [V]362
synonymousAVal [V]362
contig referenceGVal [V]362
contig referenceGVal [V]362
44605109436 rs1428252505 N.D. missenseAGlu [E]263
contig referenceGGly [G]263
44605111438 rs1165792740 N.D. missenseTSer [S]164
contig referenceGAla [A]164
44605113440 rs1332715513 N.D. synonymousGAla [A]364
contig referenceAAla [A]364
44605115442 rs1219930695 N.D. missenseAAsp [D]265
contig referenceTVal [V]265
44605117444 rs1367071616 N.D. missenseGAla [A]166
contig referenceAThr [T]166
44605119446 rs375797501 0.000byCluster synonymousCThr [T]366
contig referenceTThr [T]366
44605120447 rs769486957 0.000 missenseGVal [V]167
contig referenceAMet [M]167
44605121448 rs1310163793 N.D. missenseCThr [T]267
contig referenceTMet [M]267
44605126453 rs562318494 0.000byClusterbyFreq missenseCLeu [L]169
missenseTLeu [L]169
contig referenceAMet [M]169
44605127454 rs1432868599 N.D. missenseCThr [T]269
contig referenceTMet [M]269
44605129456 rs1193184261 N.D. missenseASer [S]170
contig referenceGGly [G]170
44605131458 rs949262459 N.D. synonymousTGly [G]370
contig referenceCGly [G]370
44605134461 rs149844780 0.000byClusterbyFreq synonymousTPhe [F]371
contig referenceCPhe [F]371
44605136463 rs1477589177 N.D. missenseCPro [P]272
contig referenceTLeu [L]272
44605138465 rs1225916961 N.D. missenseASer [S]173
contig referenceGGly [G]173
44605142469 rs774467192 0.000 missenseTPhe [F]274
contig referenceGCys [C]274
44605146473 rs759521623 0.000byFreq missenseGMet [M]375
synonymousTIle [I]375
contig referenceCIle [I]375
44605147474 rs369269460 0.000byClusterbyFreq missenseASer [S]176
missenseTCys [C]176
contig referenceGGly [G]176
44605148475 rs1199304786 N.D. missenseCAla [A]276
contig referenceGGly [G]276
44605148475 rs1265414837 N.D. frame shiftCGCCArg [R]278
contig reference-Val [V]278
44605150477 rs1448835814 N.D. missenseAThr [T]177
missenseTSer [S]177
contig referenceGAla [A]177
44605152479 rs757425084 0.000 synonymousGAla [A]377
synonymousTAla [A]377
contig referenceCAla [A]377
44605153480 rs1231014337 N.D. missenseAIle [I]178
contig referenceGVal [V]178
44605157484 rs765440814 0.000 missenseGSer [S]279
contig referenceAAsn [N]279
44605159486 rs145881169 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]180
contig referenceGGlu [E]180
44605161488 rs1271715957 N.D. missenseCAsp [D]380
contig referenceGGlu [E]380
44605164491 rs1165931858 N.D. synonymousAVal [V]381
contig referenceCVal [V]381
44605165492 rs758720179 0.000 missenseGGly [G]182
missenseTCys [C]182
contig referenceCArg [R]182
44605166493 rs148925723 0.000byClusterbyFreq missenseAHis [H]282
missenseTLeu [L]282
contig referenceGArg [R]282
44605168495 rs1162259880 N.D. frame shift-Ala [A]183
contig referenceTCys [C]183
44605171498 rs747565395 0.000byFreq synonymousTLeu [L]184
contig referenceCLeu [L]184
44605173500 rs370728156 0.000byClusterbyFreq synonymousTLeu [L]384
contig referenceGLeu [L]384
44605174501 rs1035508117 N.D. missenseGVal [V]185
synonymousTLeu [L]185
contig referenceCLeu [L]185
44605179506 rs35348953 0.001byClusterbyFreqWith1000GenomeData0.0012 synonymousTGly [G]386
contig referenceGGly [G]386
44605182509 rs1432804787 N.D. synonymousALeu [L]387
contig referenceGLeu [L]387
44605361516 rs1205589214 N.D. missenseTSer [S]190
contig referenceGAla [A]190
44605369524 rs1257131039 N.D. synonymousCLeu [L]392
contig referenceGLeu [L]392
44605383538 rs1314592068 N.D. missenseCThr [T]297
contig referenceTIle [I]297
44605385540 rs1001265839 N.D. missenseAThr [T]198
contig referenceGAla [A]198
44605387542 rs766789029 0.000 synonymousAAla [A]398
synonymousGAla [A]398
contig referenceCAla [A]398
44605389544 rs751917502 0.000 missenseCPro [P]299
missenseGArg [R]299
contig referenceAGln [Q]299
44605393548 rs1430558234 N.D. synonymousAVal [V]3100
contig referenceGVal [V]3100
44605396551 rs893203534 N.D. synonymousAThr [T]3101
contig referenceGThr [T]3101
44605397552 rs756306249 0.000byClusterbyFreq missenseTSer [S]1102
contig referenceGAla [A]1102
44605398553 rs781684485 0.000 missenseAAsp [D]2102
contig referenceCAla [A]2102
44605400555 rs574662941 0.000With1000GenomeData0.0002 missenseAArg [R]1103
contig referenceGGly [G]1103
44605403558 rs755612375 0.000 missenseAThr [T]1104
contig referenceGAla [A]1104
44605411566 rs780007862 N.D. synonymousTPhe [F]3106
contig referenceCPhe [F]3106
44605419574 rs546228845 N.D. missenseGSer [S]2109
contig referenceAAsn [N]2109
44605422577 rs541705376 0.000With1000GenomeData0.0002 missenseCThr [T]2110
contig referenceTMet [M]2110
44605424579 rs1378144247 N.D. missenseASer [S]1111
contig referenceGGly [G]1111
44605428583 rs1426201193 N.D. missenseGArg [R]2112
contig referenceALys [K]2112
44615283596 rs2303865 0.333byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.2458 synonymousAGlu [E]3116
synonymousAGlu [E]3116
synonymousAGlu [E]3116
contig referenceGGlu [E]3116
contig referenceGGlu [E]3116
contig referenceGGlu [E]3116
44615284597 rs1188910119 N.D. missenseGVal [V]1117
contig referenceAMet [M]1117
44615285598 rs762967350 0.000byFreq missenseCThr [T]2117
contig referenceTMet [M]2117
44615286599 rs374008730 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]3117
contig referenceGMet [M]3117
44615287600 rs774518909 0.000 missenseASer [S]1118
contig referenceGGly [G]1118
44615289602 rs883752 0.410byClusterbyFreqwith2hitWith1000GenomeData0.2282 synonymousTGly [G]3118
contig referenceCGly [G]3118
44615290603 rs368613608 0.000byClusterbyFreq missenseASer [S]1119
contig referenceGGly [G]1119
44615293606 rs752996542 0.000 missenseGVal [V]1120
contig referenceAIle [I]1120
44615295608 rs761244897 0.000byFreq synonymousTIle [I]3120
contig referenceCIle [I]3120
44615296609 rs1456456541 N.D. missenseAMet [M]1121
contig referenceGVal [V]1121
44615298611 rs2303864 0.009byClusterbyFreqWith1000GenomeData0.0098 synonymousAVal [V]3121
synonymousAVal [V]3121
contig referenceGVal [V]3121
contig referenceGVal [V]3121
44615301614 rs1366630566 N.D. synonymousCThr [T]3122
contig referenceTThr [T]3122
44615305618 rs138793220 0.000byClusterbyFreq missenseTPhe [F]1124
contig referenceCLeu [L]1124
44615311624 rs753814217 0.000 (15bp) [RDYNS]1130
44615311624 rs1248735795 N.D. nonsenseT1126
synonymousAArg [R]1126
contig referenceCArg [R]1126
44615312625 rs756787839 0.000 missenseAGln [Q]2126
contig referenceGArg [R]2126
44615314627 rs764806308 0.000byFreq missenseAAsn [N]1127
contig referenceGAsp [D]1127
44615317630 rs755032584 0.000 frame shiftACAALys [K]1129
contig reference-Asn [N]1129
44615318631 rs750138207 0.000 missenseGCys [C]2128
contig referenceATyr [Y]2128
44615319632 rs757975489 0.000 synonymousTTyr [Y]3128
contig referenceCTyr [Y]3128
44615320633 rs779968308 0.000 missenseGAsp [D]1129
contig referenceAAsn [N]1129
44615322635 rs746715629 0.000byFreq synonymousTAsn [N]3129
contig referenceCAsn [N]3129
44615324637 rs1369761272 N.D. missenseAAsn [N]2130
contig referenceGSer [S]2130
44615326639 rs1218758882 N.D. missenseCArg [R]1131
contig referenceASer [S]1131
44615327640 rs754923253 0.000 missenseTIle [I]2131
contig referenceGSer [S]2131
44615329642 rs142819851 0.000byClusterbyFreq missenseASer [S]1132
missenseTCys [C]1132
contig referenceCArg [R]1132
44615330643 rs117157354 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseAHis [H]2132
missenseTLeu [L]2132
contig referenceGArg [R]2132
44615331644 rs774394673 0.000 synonymousTArg [R]3132
contig referenceCArg [R]3132
44615332645 rs746166676 0.000byFreq nonsenseT1133
missenseALys [K]1133
contig referenceGGlu [E]1133
44615334647 rs11541051 N.D. missenseTAsp [D]3133
contig referenceGGlu [E]3133
44615340653 rs929887928 N.D. synonymousTSer [S]3135
contig referenceCSer [S]3135
44615341654 rs1203620279 N.D. missenseAMet [M]1136
contig referenceCLeu [L]1136
44615342655 rs1358734672 N.D. missenseCPro [P]2136
contig referenceTLeu [L]2136
44615343656 rs1019827331 N.D. synonymousTLeu [L]3136
contig referenceGLeu [L]3136
44615344657 rs983111077 N.D. nonsenseT1137
contig referenceCGln [Q]1137
44615346659 rs907829312 N.D. synonymousAGln [Q]3137
contig referenceGGln [Q]3137
44615351664 rs1413360133 N.D. missenseTVal [V]2139
contig referenceCAla [A]2139
44615356669 rs965523376 N.D. missenseTTyr [Y]1141
contig referenceGAsp [D]1141
44615360673 rs775933913 0.000byFreq missenseCSer [S]2142
contig referenceATyr [Y]2142
44615361674 rs573753161 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3142
contig referenceCTyr [Y]3142
44615362675 rs200277144 0.000byClusterbyFreq missenseAMet [M]1143
contig referenceGVal [V]1143
44615363676 rs1360289086 N.D. missenseCAla [A]2143
contig referenceTVal [V]2143
44615364677 rs781269208 N.D. synonymousTVal [V]3143
contig referenceGVal [V]3143
44615365678 rs745695307 N.D. missenseGGlu [E]1144
contig referenceCGln [Q]1144
44615368681 rs777316375 0.000 missenseTSer [S]1145
contig referenceGAla [A]1145
44615369682 rs932075832 N.D. missenseGGly [G]2145
contig referenceCAla [A]2145
44615371684 rs778999473 0.000 frame shiftAGGTGArg [R]1148
contig reference-Lys [K]1148
44615372685 rs762386509 0.000 missenseGArg [R]2146
contig referenceAGln [Q]2146
44618163688 rs751215015 0.000 missenseAGlu [E]2147
contig referenceTVal [V]2147
44618173698 rs150371864 0.000byClusterbyFreqWith1000GenomeData0.0004 nonsenseA3150
synonymousTCys [C]3150
contig referenceCCys [C]3150
44618174699 rs752419097 0.000byFreq missenseASer [S]1151
contig referenceGGly [G]1151
44618175700 rs1172527080 N.D. missenseTVal [V]2151
contig referenceGGly [G]2151
44618180705 rs138109186 0.000byCluster missenseAIle [I]1153
contig referenceGVal [V]1153
44618181706 rs756053924 0.006byFreq missenseGGly [G]2153
contig referenceTVal [V]2153
44618182707 rs777519636 0.000byFreq synonymousTVal [V]3153
contig referenceCVal [V]3153
44618184709 rs796961020 N.D. missenseCThr [T]2154
contig referenceGSer [S]2154
44618185710 rs750546226 0.000 synonymousTSer [S]3154
contig referenceCSer [S]3154
44618186711 rs1376316429 N.D. missenseCLeu [L]1155
contig referenceTPhe [F]1155
44618187712 rs1408829871 N.D. missenseGCys [C]2155
contig referenceTPhe [F]2155
44618190715 rs1326323470 N.D. missenseGCys [C]2156
contig referenceATyr [Y]2156
44618191716 rs758448103 0.000 synonymousTTyr [Y]3156
contig referenceCTyr [Y]3156
44618193718 rs780157672 0.000 missenseGSer [S]2157
contig referenceAAsn [N]2157
44618197722 rs1274219184 N.D. nonsenseA3158
contig referenceGTrp [W]3158
44618198723 rs1368615847 N.D. missenseGAla [A]1159
missenseTSer [S]1159
contig referenceAThr [T]1159
44618200725 rs747290721 0.000 synonymousCThr [T]3159
contig referenceAThr [T]3159
44618203728 rs1275071733 N.D. synonymousTAsp [D]3160
contig referenceCAsp [D]3160
44618204729 rs1341802660 N.D. missenseGAsp [D]1161
contig referenceAAsn [N]1161
44618205730 rs373060622 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGSer [S]2161
contig referenceAAsn [N]2161
44618206731 rs200149429 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsn [N]3161
contig referenceCAsn [N]3161
44618207732 rs1452286030 N.D. missenseAThr [T]1162
contig referenceGAla [A]1162
44618208733 rs1163600849 N.D. missenseTVal [V]2162
contig referenceCAla [A]2162
44618222747 rs149456679 0.001byClusterbyFreq missenseTCys [C]1167
contig referenceCArg [R]1167
44618223748 rs143845294 0.000byClusterbyFreq missenseAHis [H]2167
contig referenceGArg [R]2167
44618224749 rs541161774 0.001byClusterbyFreqWith1000GenomeData0.0010 synonymousTArg [R]3167
contig referenceCArg [R]3167
44618226751 rs377503391 0.000byClusterbyFreq missenseTLeu [L]2168
contig referenceCPro [P]2168
44618229754 rs1011699199 N.D. missenseGGly [G]2169
contig referenceAGlu [E]2169
44618235760 rs1389903402 N.D. missenseGSer [S]2171
contig referenceCThr [T]2171
44618238763 rs1428757886 N.D. missenseCSer [S]2172
contig referenceATyr [Y]2172
44618239764 rs1165811219 N.D. nonsenseA3172
contig referenceCTyr [Y]3172
44618241766 rs770399013 0.000 missenseTLeu [L]2173
contig referenceCPro [P]2173
44618247772 rs773901832 0.000 missenseTPhe [F]2175
contig referenceCSer [S]2175
44618249774 rs1043146016 N.D. missenseCArg [R]1176
contig referenceTCys [C]1176
44618251776 rs139816598 0.000byClusterbyFreqWith1000GenomeData0.0010 nonsenseA3176
missenseGTrp [W]3176
synonymousTCys [C]3176
contig referenceCCys [C]3176
44618252777 rs370975589 0.000byCluster missenseALys [K]1177
contig referenceGGlu [E]1177
44618258783 rs760418741 0.000 missenseGGlu [E]1179
contig referenceALys [K]1179
44618259784 rs1364168845 N.D. missenseGArg [R]2179
contig referenceALys [K]2179
44618261786 rs763918347 0.000byFreq missenseAArg [R]1180
contig referenceGGly [G]1180
44618262787 rs763742776 N.D. missenseAGlu [E]2180
contig referenceGGly [G]2180
44618263788 rs753768500 0.000byFreq synonymousAGly [G]3180
contig referenceGGly [G]3180
44618264789 rs757203164 0.000 missenseALys [K]1181
missenseCGln [Q]1181
contig referenceGGlu [E]1181
44618265790 rs1030874843 N.D. missenseGGly [G]2181
contig referenceAGlu [E]2181
44618266791 rs1209377252 N.D. synonymousGGlu [E]3181
contig referenceAGlu [E]3181
44618267792 rs1470193473 N.D. missenseALys [K]1182
contig referenceGGlu [E]1182
44618269794 rs890751636 N.D. synonymousAGlu [E]3182
contig referenceGGlu [E]3182
44618276801 rs780063147 0.000 missenseGGly [G]1185
contig referenceASer [S]1185
44618277802 rs751624745 0.000byFreq missenseAAsn [N]2185
contig referenceGSer [S]2185
44618281806 rs766762693 N.D. synonymousCLeu [L]3186
contig referenceTLeu [L]3186
44618283808 rs755265941 0.000byFreq missenseTPhe [F]2187
contig referenceCSer [S]2187
44618284809 rs1247896044 N.D. synonymousCSer [S]3187
contig referenceTSer [S]3187
44618288813 rs758151345 0.000 frame shift-Ala [A]1190
contig referenceAGGALys [K]1190
44618289814 rs1325413396 N.D. missenseCThr [T]2189
contig referenceGArg [R]2189
44618290815 rs962018214 N.D. synonymousAArg [R]3189
contig referenceGArg [R]3189
44618292817 rs781515941 0.000 missenseGArg [R]2190
contig referenceALys [K]2190
44618293818 rs1230082522 N.D. missenseTAsn [N]3190
contig referenceGLys [K]3190
44618294819 rs1189974432 N.D. missenseASer [S]1191
missenseTCys [C]1191
contig referenceGGly [G]1191
44618295820 rs748555757 0.000 missenseAAsp [D]2191
contig referenceGGly [G]2191
44618296821 rs1472917055 N.D. synonymousGGly [G]3191
contig referenceCGly [G]3191
44618301826 rs973128077 N.D. missenseATyr [Y]2193
contig referenceGCys [C]2193
44618302827 rs141597594 0.003byClusterbyFreqWith1000GenomeData0.0004 synonymousTCys [C]3193
contig referenceCCys [C]3193
44618303828 rs200920132 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1194
contig referenceGGlu [E]1194
44618306831 rs1458801753 N.D. missenseAThr [T]1195
missenseTSer [S]1195
contig referenceGAla [A]1195
44618307832 rs749820676 0.000byFreq missenseAAsp [D]2195
missenseGGly [G]2195
missenseTVal [V]2195
contig referenceCAla [A]2195
44618308833 rs1169923788 N.D. synonymousAAla [A]3195
contig referenceCAla [A]3195
44618309834 rs1430637323 N.D. missenseTSer [S]1196
contig referenceCPro [P]1196
44618311836 rs773861588 0.000byFreq synonymousAPro [P]3196
synonymousTPro [P]3196
contig referenceCPro [P]3196
44618312837 rs771739391 0.000 missenseASer [S]1197
contig referenceGGly [G]1197
44618313838 rs1335922330 N.D. missenseAAsp [D]2197
contig referenceGGly [G]2197
44618317842 rs1172799217 N.D. synonymousTAsn [N]3198
contig referenceCAsn [N]3198
44618321846 rs1341366279 N.D. missenseTSer [S]1200
contig referenceAThr [T]1200
44618322847 rs775162522 0.000 missenseTIle [I]2200
contig referenceCThr [T]2200
44618323848 rs1291563125 N.D. synonymousGThr [T]3200
contig referenceCThr [T]3200
44618324849 rs1430478244 N.D. nonsenseT1201
contig referenceCGln [Q]1201
44618326851 rs760351929 0.000 missenseTHis [H]3201
contig referenceGGln [Q]3201
44618328853 rs1229038645 N.D. missenseAAsn [N]2202
contig referenceGSer [S]2202
44618331856 rs200514878 0.000byClusterbyFreq missenseTVal [V]2203
contig referenceGGly [G]2203
44618332857 rs1026032539 N.D. synonymousTGly [G]3203
contig referenceCGly [G]3203
44618334859 rs1485147517 N.D. missenseGSer [S]2204
contig referenceAAsn [N]2204
44618335860 rs1471148682 N.D. synonymousTAsn [N]3204
contig referenceCAsn [N]3204
44618338863 rs776479933 0.000byFreq missenseAGln [Q]3205
synonymousTHis [H]3205
contig referenceCHis [H]3205
44618341866 rs1257299909 N.D. synonymousAPro [P]3206
synonymousCPro [P]3206
contig referenceTPro [P]3206
44618342867 rs1442683547 N.D. missenseALys [K]1207
contig referenceGGlu [E]1207
44618345870 rs1186756556 N.D. missenseAAsn [N]1208
contig referenceGAsp [D]1208
44618348873 rs1415150052 N.D. missenseGGly [G]1209
contig referenceTTrp [W]1209
44618355880 rs577477292 0.000With1000GenomeData0.0002 missenseGGly [G]2211
contig referenceTVal [V]2211
44618356881 rs1159182616 N.D. synonymousAVal [V]3211
contig referenceGVal [V]3211
44618359884 rs1363213620 N.D. synonymousTTyr [Y]3212
contig referenceCTyr [Y]3212
44618361886 rs1451539938 N.D. missenseGArg [R]2213
contig referenceAGln [Q]2213
44618362887 rs765165459 0.000byFreq synonymousAGln [Q]3213
contig referenceGGln [Q]3213
44618364889 rs1402610743 N.D. missenseGGly [G]2214
contig referenceAGlu [E]2214
44618641892 rs1449885960 N.D. missenseAAsp [D]2215
contig referenceGGly [G]2215
44618642893 rs1388714542 N.D. synonymousAGly [G]3215
contig referenceCGly [G]3215
44618644895 rs1185651730 N.D. missenseATyr [Y]2216
contig referenceGCys [C]2216
44618646897 rs778562920 0.000byClusterbyFreq missenseGVal [V]1217
contig referenceAMet [M]1217
44618650901 rs146220817 0.000byClusterbyFreq missenseGGly [G]2218
contig referenceAGlu [E]2218
44618655906 rs554846063 0.000byCluster missenseAMet [M]1220
contig referenceGVal [V]1220
44618657908 rs542337864 0.000With1000GenomeData0.0002 synonymousAVal [V]3220
contig referenceGVal [V]3220
44618658909 rs777719140 0.000byFreq missenseALys [K]1221
contig referenceCGln [Q]1221
44618662913 rs201290700 0.000byClusterbyFreq missenseAGlu [E]2222
missenseTVal [V]2222
contig referenceCAla [A]2222
44618663914 rs774382622 0.000byFreq synonymousAAla [A]3222
contig referenceGAla [A]3222
44618664915 rs372946885 0.000byCluster missenseGGly [G]1223
contig referenceTTrp [W]1223
44618667918 rs1323175038 N.D. synonymousTLeu [L]1224
contig referenceCLeu [L]1224
44618669920 rs1055366914 N.D. synonymousALeu [L]3224
contig referenceGLeu [L]3224
44618674925 rs759367396 0.000 missenseGGly [G]2226
contig referenceAGlu [E]2226
44618675926 rs74375347 0.021byClusterbyFreqWith1000GenomeData0.0042 synonymousAGlu [E]3226
contig referenceGGlu [E]3226
44618678929 rs1287473840 N.D. missenseGLys [K]3227
contig referenceCAsn [N]3227
44618679930 rs776567252 0.000 synonymousTLeu [L]1228
contig referenceCLeu [L]1228
44618680931 rs1308192619 N.D. missenseCPro [P]2228
contig referenceTLeu [L]2228
44618683934 rs1229646916 N.D. missenseAAsp [D]2229
missenseTVal [V]2229
contig referenceGGly [G]2229
44618684935 rs762027127 0.000byFreq synonymousAGly [G]3229
contig referenceCGly [G]3229
44618685936 rs1340893259 N.D. missenseGVal [V]1230
contig referenceAIle [I]1230
44618687938 rs765384989 0.000 synonymousTIle [I]3230
contig referenceCIle [I]3230
44618688939 rs1230887505 N.D. missenseGVal [V]1231
contig referenceAIle [I]1231
44618691942 rs1424268267 N.D. missenseTPhe [F]1232
contig referenceCLeu [L]1232
44618692943 rs750810564 0.000 missenseGArg [R]2232
contig referenceTLeu [L]2232
44618693944 rs142423874 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousTLeu [L]3232
contig referenceCLeu [L]3232
44618694945 rs1465248094 N.D. missenseASer [S]1233
contig referenceGGly [G]1233
44618695946 rs1214889414 N.D. missenseTVal [V]2233
contig referenceGGly [G]2233
44618696947 rs79095986 0.007byClusterbyFreqWith1000GenomeData0.0092 synonymousGGly [G]3233
synonymousTGly [G]3233
contig referenceCGly [G]3233
44618697948 rs755430626 0.000byFreq missenseAMet [M]1234
contig referenceGVal [V]1234
44618699950 rs780823917 0.000byFreq synonymousAVal [V]3234
synonymousTVal [V]3234
contig referenceGVal [V]3234
44618702953 rs190517526 0.003byClusterbyFreqWith1000GenomeData0.0046 synonymousTGly [G]3235
contig referenceCGly [G]3235
44618702953 rs745383395 0.000 GTGGGT [GV]3238
44618703954 rs367797052 0.000byClusterbyFreq missenseAMet [M]1236
contig referenceGVal [V]1236
44618704955 rs748913627 0.000 missenseAGlu [E]2236
contig referenceTVal [V]2236
44618706957 rs371497237 0.000byClusterbyFreq missenseTCys [C]1237
contig referenceGGly [G]1237
44618709960 rs1413416710 N.D. missenseTLeu [L]1238
contig referenceGVal [V]1238
44618712963 rs778556850 0.000 missenseAThr [T]1239
contig referenceGAla [A]1239
44618714965 rs1157428885 N.D. synonymousTAla [A]3239
contig referenceCAla [A]3239
44618717968 rs199858417 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAIle [I]3240
synonymousTIle [I]3240
contig referenceCIle [I]3240
44618718969 rs1139971 0.459byClusterbyFreqWith1000GenomeData0.4129 missenseGVal [V]1241
contig referenceAIle [I]1241
44618720971 rs150062713 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseGMet [M]3241
synonymousTIle [I]3241
contig referenceCIle [I]3241
44618721972 rs1354362688 N.D. missenseALys [K]1242
contig referenceGGlu [E]1242
44619049975 rs754907833 0.000 missenseTPhe [F]1243
contig referenceCLeu [L]1243
44619051977 rs1316612689 N.D. synonymousGLeu [L]3243
contig referenceCLeu [L]3243
44619052978 rs1466531195 N.D. synonymousTLeu [L]1244
contig referenceCLeu [L]1244
44619056982 rs1189548465 N.D. missenseAGlu [E]2245
contig referenceGGly [G]2245
44619057983 rs777837925 0.000 synonymousTGly [G]3245
contig referenceGGly [G]3245
44619058984 rs1474873956 N.D. missenseTLeu [L]1246
contig referenceAMet [M]1246
44619059985 rs1165690851 N.D. missenseCThr [T]2246
contig referenceTMet [M]2246
44619060986 rs1415304746 N.D. missenseTIle [I]3246
contig referenceGMet [M]3246
44619064990 rs749272629 0.000 synonymousTLeu [L]1248
contig referenceCLeu [L]1248
44619066992 rs74885383 0.007byClusterbyFreqWith1000GenomeData0.0132 synonymousCLeu [L]3248
contig referenceGLeu [L]3248
44619068994 rs1239023754 N.D. missenseGCys [C]2249
contig referenceCSer [S]2249
44619069995 rs1275334022 N.D. synonymousTSer [S]3249
contig referenceCSer [S]3249
44619070996 rs778967682 0.000 missenseGVal [V]1250
contig referenceAIle [I]1250
446190791005 rs1343342842 N.D. missenseGGly [G]1253
contig referenceTCys [C]1253
446190801006 rs1437030027 N.D. missenseATyr [Y]2253
missenseTPhe [F]2253
contig referenceGCys [C]2253
446190811007 rs746076379 0.000 missenseGTrp [W]3253
synonymousTCys [C]3253
contig referenceCCys [C]3253
446190821008 rs201405906 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTTrp [W]1254
contig referenceCArg [R]1254
446190831009 rs545998821 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2254
contig referenceGArg [R]2254
446190851011 rs1286123126 N.D. missenseAAsn [N]1255
contig referenceCHis [H]1255
446190871013 rs761266322 0.000byFreq synonymousTHis [H]3255
contig referenceCHis [H]3255
446190881014 rs142351354 0.000byClusterbyFreq missenseAIle [I]1256
missenseCLeu [L]1256
contig referenceGVal [V]1256
446190901016 rs7107335 0.286byClusterbyFreqwith2hitWith1000GenomeData0.1697 synonymousGVal [V]3256
synonymousGVal [V]3256
synonymousGVal [V]3256
synonymousGVal [V]3256
synonymousTVal [V]3256
synonymousTVal [V]3256
synonymousTVal [V]3256
synonymousTVal [V]3256
contig referenceCVal [V]3256
contig referenceCVal [V]3256
contig referenceCVal [V]3256
contig referenceCVal [V]3256
446190951021 rs1331823226 N.D. missenseATyr [Y]2258
contig referenceCSer [S]2258
446190961022 rs201650491 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousASer [S]3258
synonymousGSer [S]3258
synonymousTSer [S]3258
contig referenceCSer [S]3258
446190971023 rs766230830 0.000byFreq missenseALys [K]1259
contig referenceGGlu [E]1259
446190991025 rs1043512248 N.D. synonymousGGlu [E]3259
contig referenceAGlu [E]3259
446191051031 rs751291553 0.000 synonymousTTyr [Y]3261
contig referenceCTyr [Y]3261
446191061032 rs754925345 0.000byFreq missenseGGly [G]1262
contig referenceASer [S]1262
446191111037 rs1259131014 N.D. missenseTAsn [N]3263
synonymousALys [K]3263
contig referenceGLys [K]3263
446191121038 rs781061734 0.000 missenseCLeu [L]1264
missenseTPhe [F]1264
contig referenceGVal [V]1264
446191141040 rs1472702477 N.D. synonymousTVal [V]3264
contig referenceCVal [V]3264
446191151041 rs147912305 0.000byClusterbyFreq missenseTSer [S]1265
contig referenceCPro [P]1265
446191161042 rs201671713 0.000byClusterbyFreq missenseTLeu [L]2265
contig referenceCPro [P]2265
446191171043 rs148874083 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGPro [P]3265
contig referenceCPro [P]3265
446191221048 rs773237459 0.000byClusterbyFreq missenseGCys [C]2267
contig referenceATyr [Y]2267
446191261052 rs772351881 0.000byFreq GTrp [W]3268
contig referenceA3268