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dbSNP

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SNP linked to Gene (geneID:9604) 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): 22
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017010077.1plus strandXP_016865566.1forwardNT_029289.12GRCh38.p7<- currently shown
XM_017010076.1plus strandXP_016865565.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_017010075.1plus strandXP_016865564.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_017010074.1plus strandXP_016865563.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_017010073.1plus strandXP_016865562.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_017010072.1plus strandXP_016865561.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_017010071.1plus strandXP_016865560.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_017010070.1plus strandXP_016865559.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_011537714.2plus strandXP_011536016.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268543.4plus strandXP_005268600.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268542.2plus strandXP_005268599.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268541.3plus strandXP_005268598.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268540.3plus strandXP_005268597.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268539.2plus strandXP_005268596.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268537.2plus strandXP_005268594.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
XM_005268536.2plus strandXP_005268593.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
NM_183401.2plus strandNP_899648.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
NM_183400.2plus strandNP_899647.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
NM_183399.2plus strandNP_899646.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
NM_183398.2plus strandNP_899645.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
NM_004290.4plus strandNP_004281.1forwardNT_029289.12GRCh38.p7View snp on GeneModel
NM_001201365.1plus strandNP_001188294.1forwardNT_029289.12GRCh38.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_029289.12XM_017010077.1XP_016865566.1forwardplus strand395, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
14196684711 rs1252230823 N.D. -
141973591251 rs1283194343 N.D. missenseTIle [I]31
contig referenceGMet [M]31
141973593253 rs752856670 0.000byFreq missenseTLeu [L]22
contig referenceCSer [S]22
141973594254 rs138158057 0.002byClusterbyFreqWith1000GenomeData0.0050 synonymousASer [S]32
contig referenceGSer [S]32
141973604264 rs376173586 0.000byClusterbyFreq nonsenseT16
contig referenceCArg [R]16
141973605265 rs370877884 0.000byClusterbyFreq missenseAGln [Q]26
contig referenceGArg [R]26
141973608268 rs547015961 N.D.byCluster missenseCAla [A]27
contig referenceAGlu [E]27
141973611271 rs1056546046 N.D. missenseTVal [V]28
contig referenceCAla [A]28
141973614274 rs1416057532 N.D. missenseGArg [R]29
contig referenceAGln [Q]29
141973615275 rs1211422723 N.D. synonymousAGln [Q]39
contig referenceGGln [Q]39
141973616276 rs1259716972 N.D. missenseCGln [Q]110
contig referenceGGlu [E]110
141973620280 rs1164645662 N.D. missenseGGly [G]211
contig referenceAAsp [D]211
141973625285 rs1440723460 N.D. synonymousCLeu [L]113
contig referenceTLeu [L]113
141973632292 rs1473152434 N.D. missenseTVal [V]215
contig referenceCAla [A]215
141973633293 rs917618964 N.D. synonymousTAla [A]315
contig referenceCAla [A]315
141973638298 rs758207002 0.000 missenseAGlu [E]217
contig referenceCAla [A]217
141973640300 rs779752506 0.000byFreq missenseGGly [G]118
contig referenceASer [S]118
141973648308 rs746943364 0.000byFreq synonymousTTyr [Y]320
contig referenceCTyr [Y]320
141973649309 rs768599167 0.000byFreq missenseAAsn [N]121
contig referenceGAsp [D]121
141973650310 rs780638144 0.000 missenseGGly [G]221
contig referenceAAsp [D]221
141973651311 rs747659249 0.000 synonymousCAsp [D]321
contig referenceTAsp [D]321
141973653313 rs769376053 0.000byFreq missenseCAla [A]222
contig referenceGGly [G]222
141973655315 rs772850029 0.000byFreq missenseAAsn [N]123
missenseCHis [H]123
contig referenceGAsp [D]123
141973668328 rs1191698101 N.D. missenseGArg [R]227
contig referenceALys [K]227
141973670330 rs1393830220 N.D. missenseAThr [T]128
contig referenceGAla [A]128
141973672332 rs753546885 0.000 frame shift-Val [V]329
contig referenceAGGlu [E]329
141973673333 rs1272847536 N.D. missenseCGln [Q]129
contig referenceGGlu [E]129
141973676336 rs748935663 0.000byFreq missenseGAla [A]130
contig referenceTSer [S]130
141973677337 rs1330993491 N.D. missenseGCys [C]230
contig referenceCSer [S]230
141973684344 rs1432450995 N.D. missenseCHis [H]332
contig referenceAGln [Q]332
141973687347 rs112321759 0.008byClusterbyFreqWith1000GenomeData0.0130 synonymousGGly [G]333
contig referenceTGly [G]333
141973688348 rs1001040524 N.D. missenseAArg [R]134
contig referenceGGly [G]134
141973703363 rs774605418 0.000 missenseGAsp [D]139
contig referenceTTyr [Y]139
141973704364 rs375496457 0.000byCluster missenseGCys [C]239
contig referenceATyr [Y]239
141973706366 rs781715201 N.D. missenseGVal [V]140
contig referenceTLeu [L]140
141973717377 rs61750770 0.044 synonymousCPro [P]343
contig referenceAPro [P]343
141973723383 rs1342748400 N.D. missenseALys [K]345
contig referenceTAsn [N]345
141973726386 rs1412197315 N.D. synonymousTPhe [F]346
contig referenceCPhe [F]346
141973741401 rs768143442 0.000byFreq missenseAArg [R]351
synonymousTSer [S]351
contig referenceCSer [S]351
141973742402 rs760826430 0.000byFreq missenseASer [S]152
contig referenceGGly [G]152
141974805404 rs1261394639 N.D. synonymousAGly [G]352
contig referenceCGly [G]352
141974806405 rs1352859944 N.D. missenseGAsp [D]153
contig referenceAAsn [N]153
141974807406 rs772624507 0.000byFreq missenseCThr [T]253
contig referenceAAsn [N]253
141974809408 rs370242504 0.000byCluster missenseCPro [P]154
contig referenceTSer [S]154
141974810409 rs1267703586 N.D. missenseTLeu [L]254
contig referenceCSer [S]254
141974815414 rs1385408847 N.D. missenseALys [K]156
contig referenceGGlu [E]156
141974817416 rs886311459 N.D. synonymousAGlu [E]356
contig referenceGGlu [E]356
141974818417 rs1009217569 N.D. missenseCArg [R]157
contig referenceTCys [C]157
141974819418 rs1040315461 N.D. missenseATyr [Y]257
contig referenceGCys [C]257
141974821420 rs200103265 0.000byClusterbyFreq missenseTPhe [F]158
contig referenceCLeu [L]158
141974823422 rs1195953508 N.D. synonymousALeu [L]358
contig referenceCLeu [L]358
141974826425 rs761303114 0.000 synonymousAGln [Q]359
contig referenceGGln [Q]359
141974828427 rs1283082501 N.D. missenseTIle [I]260
contig referenceAAsn [N]260
141974829428 rs367880202 0.001byClusterbyFreq missenseGLys [K]360
synonymousCAsn [N]360
contig referenceTAsn [N]360
141974835434 rs1028329756 N.D. synonymousTGly [G]362
contig referenceCGly [G]362
141974840439 rs1394843351 N.D. missenseCAla [A]264
contig referenceAGlu [E]264
141974847446 rs371996038 0.000byCluster synonymousAThr [T]366
synonymousTThr [T]366
contig referenceCThr [T]366
141974848447 rs1363899614 N.D. missenseGVal [V]167
contig referenceAIle [I]167
141974854453 rs560130343 N.D. missenseGVal [V]169
contig referenceTPhe [F]169
141974858457 rs1473263621 N.D. missenseGArg [R]270
contig referenceTLeu [L]270
141974859458 rs765377623 0.000 synonymousALeu [L]370
contig referenceGLeu [L]370
141974860459 rs867668982 N.D.byCluster missenseAThr [T]171
contig referenceCPro [P]171
141974862461 rs751306717 0.000 synonymousCPro [P]371
contig referenceTPro [P]371
141974864463 rs754740638 0.000 frame shiftAThr [T]273
contig reference-Leu [L]273
141974869468 rs918779537 N.D. missenseCLeu [L]174
contig referenceGVal [V]174
141974870469 rs11546018 N.D. missenseCAla [A]274
contig referenceTVal [V]274
141974882481 rs754752442 0.000 missenseGGly [G]278
contig referenceAGlu [E]278
141974889488 rs1386157568 N.D. synonymousTPro [P]380
contig referenceAPro [P]380
141974891490 rs1230441702 N.D. missenseTLeu [L]281
contig referenceCPro [P]281
141974894493 rs767343080 0.000 missenseGGly [G]282
contig referenceAAsp [D]282
141974904503 rs752611229 0.000 synonymousTSer [S]385
contig referenceCSer [S]385
141974908507 rs34089835 N.D. frame shiftCThr [T]189
contig reference-Pro [P]189
141974913512 rs1252762395 N.D. synonymousGPro [P]388
contig referenceAPro [P]388
141974920519 rs1194223114 N.D. missenseCLeu [L]191
contig referenceTPhe [F]191
141974926525 rs1266543893 N.D. missenseTPhe [F]193
contig referenceCLeu [L]193
141974927526 rs756071947 0.000 missenseGArg [R]293
contig referenceTLeu [L]293
141974931530 rs1287791444 N.D. synonymousCSer [S]394
contig referenceTSer [S]394
141974933532 rs777300776 0.000byCluster missenseAAsp [D]295
contig referenceGGly [G]295
141974935534 rs748753336 0.000byFreq missenseGGlu [E]196
contig referenceALys [K]196
141974942541 rs1264063774 N.D. missenseGArg [R]298
contig referenceTLeu [L]298
141974943542 rs75142204 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousALeu [L]398
contig referenceGLeu [L]398
141974944543 rs778418112 0.000 missenseCPro [P]199
contig referenceTSer [S]199
141974947546 rs1253333398 N.D. missenseTSer [S]1100
contig referenceCPro [P]1100
141974949548 rs1292551375 N.D. synonymousCPro [P]3100
contig referenceAPro [P]3100
141974950549 rs150500657 0.000byClusterbyFreq missenseGAla [A]1101
missenseTSer [S]1101
contig referenceAThr [T]1101
141974953552 rs780612528 0.000 nonsenseT1102
contig referenceCGln [Q]1102
141978304556 rs1482399664 N.D. missenseCPro [P]2103
contig referenceTLeu [L]2103
141978305557 rs763956128 0.000byFreq synonymousCLeu [L]3103
synonymousGLeu [L]3103
contig referenceALeu [L]3103
141978307559 rs1250444499 N.D. missenseGCys [C]2104
contig referenceCSer [S]2104
141978310562 rs1485686554 N.D. missenseGGly [G]2105
contig referenceCAla [A]2105
141978311563 rs772889922 0.000 synonymousCAla [A]3105
contig referenceTAla [A]3105
141978314566 rs778522939 0.000 synonymousGLeu [L]3106
contig referenceALeu [L]3106
141978318570 rs750074718 0.000byFreq missenseGGlu [E]1108
contig referenceALys [K]1108
141978321573 rs1170963523 N.D. missenseTTyr [Y]1109
contig referenceCHis [H]1109
141978322574 rs1406800413 N.D. missenseCPro [P]2109
contig referenceAHis [H]2109
141978323575 rs1446646166 N.D. missenseGGln [Q]3109
contig referenceCHis [H]3109
141978329581 rs1391710030 N.D. synonymousTAsp [D]3111
contig referenceCAsp [D]3111
141978331583 rs1427753014 N.D. missenseGSer [S]2112
contig referenceAAsn [N]2112
141978332584 rs1423835064 N.D. synonymousTAsn [N]3112
contig referenceCAsn [N]3112
141978335587 rs1440106920 N.D. synonymousGLeu [L]3113
contig referenceALeu [L]3113
141978346598 rs1167829399 N.D. missenseGArg [R]2117
contig referenceAHis [H]2117
141978347599 rs758142751 0.000byFreq missenseAGln [Q]3117
contig referenceCHis [H]3117
141978348600 rs139883863 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1118
contig referenceCArg [R]1118
141978349601 rs765971131 0.000 missenseAHis [H]2118
contig referenceGArg [R]2118
141978356608 rs769147771 0.000byFreq synonymousTSer [S]3120
contig referenceCSer [S]3120
141978357609 rs781535864 0.000byFreq missenseAMet [M]1121
contig referenceGVal [V]1121
141978363615 rs1298194723 N.D. synonymousTLeu [L]1123
contig referenceCLeu [L]1123
141978368620 rs199915191 N.D.With1000GenomeData synonymousCPhe [F]3124
contig referenceTPhe [F]3124
141978377629 rs748754648 0.000 missenseAIle [I]3127
contig referenceGMet [M]3127
141978380632 rs769741930 0.000 synonymousGGln [Q]3128
contig referenceAGln [Q]3128
141978396648 rs1223176586 N.D. missenseCPro [P]1134
contig referenceAThr [T]1134
141978400652 rs1352087226 N.D. missenseCPro [P]2135
contig referenceTLeu [L]2135
141978410662 rs773303212 0.000byFreq missenseCPhe [F]3138
contig referenceGLeu [L]3138
141978412664 rs1350646525 N.D. missenseGSer [S]2139
contig referenceAAsn [N]2139
141978414666 rs763123248 0.000 missenseGVal [V]1140
contig referenceAIle [I]1140
141978419671 rs771146689 0.000 synonymousGVal [V]3141
contig referenceCVal [V]3141
141978421673 rs775211771 0.000 missenseTPhe [F]2142
contig referenceCSer [S]2142
141978423675 rs760377455 0.000 missenseTSer [S]1143
contig referenceCPro [P]1143
141978424676 rs1423260505 N.D. missenseAHis [H]2143
contig referenceCPro [P]2143
141978440692 rs1249684189 N.D. synonymousAIle [I]3148
contig referenceTIle [I]3148
141978442694 rs764020497 0.000byFreq missenseAAsp [D]2149
contig referenceGGly [G]2149
141978450702 rs753690692 0.000byFreq missenseGGlu [E]1152
contig referenceALys [K]1152
141978456708 rs75251980 0.000 missenseAMet [M]1154
contig referenceGVal [V]1154
141978457709 rs143248185 0.000byClusterbyFreq missenseCAla [A]2154
contig referenceTVal [V]2154
141978462714 rs1174050108 N.D. missenseGGly [G]1156
contig referenceAArg [R]1156
141978470722 rs749980492 0.000byFreq synonymousTThr [T]3158
contig referenceAThr [T]3158
141978472724 rs1454553364 N.D. missenseGGly [G]2159
contig referenceCAla [A]2159
141978476728 rs1245624903 N.D. synonymousGGln [Q]3160
contig referenceAGln [Q]3160
141978477729 rs758052881 0.000 missenseAThr [T]1161
contig referenceGAla [A]1161
141978479731 rs779865727 0.000 synonymousGAla [A]3161
contig referenceTAla [A]3161
141978483735 rs751313763 0.000 missenseGAla [A]1163
contig referenceCPro [P]1163
141978487739 rs1007633711 N.D. missenseGSer [S]2164
contig referenceAAsn [N]2164
141978488740 rs755291870 0.000 synonymousTAsn [N]3164
contig referenceCAsn [N]3164
141978496748 rs146256995 0.000byClusterbyFreq missenseGArg [R]2167
contig referenceTLeu [L]2167
141978517769 rs1217977068 N.D. missenseTVal [V]2174
contig referenceGGly [G]2174
141978518770 rs1390157413 N.D. synonymousTGly [G]3174
contig referenceAGly [G]3174
141978520772 rs1396476214 N.D. missenseTPhe [F]2175
contig referenceCSer [S]2175
141978530782 rs748557080 0.000byFreq synonymousTAsp [D]3178
contig referenceCAsp [D]3178
141978536788 rs1311084699 N.D. synonymousAGlu [E]3180
contig referenceGGlu [E]3180
141978542794 rs758386033 0.000byFreq -3184
141978546798 rs759252807 N.D. missenseTTyr [Y]1184
contig referenceGAsp [D]1184
141978548800 rs958252473 N.D. frame shiftGAGlu [E]3187
contig reference-Ala [A]3187
141978553805 rs756676710 0.000 missenseALys [K]2186
missenseCThr [T]2186
contig referenceGArg [R]2186
141978557809 rs1420016058 N.D. synonymousTAla [A]3187
contig referenceAAla [A]3187
141978559811 rs1463231911 N.D. missenseCAla [A]2188
contig referenceTVal [V]2188
141978560812 rs777764504 0.000 synonymousCVal [V]3188
synonymousTVal [V]3188
contig referenceGVal [V]3188
141978565817 rs375343745 0.000byClusterbyFreq missenseCAla [A]2190
missenseTVal [V]2190
contig referenceAAsp [D]2190
141978567819 rs139298196 0.000byCluster missenseAMet [M]1191
contig referenceGVal [V]1191
141978569821 rs1418396556 N.D. synonymousAVal [V]3191
contig referenceGVal [V]3191
141978575827 rs1479005755 N.D. synonymousGSer [S]3193
contig referenceASer [S]3193
141978576828 rs990113571 N.D. missenseGVal [V]1194
contig referenceCLeu [L]1194
141978578830 rs746144532 0.000byFreq synonymousTLeu [L]3194
contig referenceGLeu [L]3194
141978580832 rs768316217 0.000byFreq nonsenseA2195
contig referenceCSer [S]2195
141978582834 rs1419714072 N.D. missenseCHis [H]1196
contig referenceAAsn [N]1196
141978584836 rs61748697 0.020byClusterbyFreqWith1000GenomeData0.0056 synonymousCAsn [N]3196
contig referenceTAsn [N]3196
141978585837 rs1386751760 N.D. missenseAMet [M]1197
contig referenceCLeu [L]1197
141978590842 rs966742447 N.D. missenseGMet [M]3198
contig referenceCIle [I]3198
141978593845 rs761611519 0.000byFreq missenseTHis [H]3199
contig referenceGGln [Q]3199
141978594846 rs761290089 N.D. missenseALys [K]1200
contig referenceGGlu [E]1200
141978602854 rs1228921386 N.D. synonymousALeu [L]3202
contig referenceGLeu [L]3202
141978603855 rs1351974734 N.D. missenseAAsn [N]1203
contig referenceGAsp [D]1203
141978621873 rs61748691 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseALys [K]1209
contig referenceCGln [Q]1209
141978624876 rs370520263 N.D. missenseCLeu [L]1210
contig referenceAIle [I]1210
141978629881 rs1274747263 N.D. synonymousGLys [K]3211
contig referenceALys [K]3211
141978631883 rs148683883 0.000byClusterbyFreq missenseATyr [Y]2212
contig referenceGCys [C]2212
141978636888 rs777699128 0.000 frame shift-Ile [I]1214
contig referenceAAsn [N]1214
141978639891 rs752420065 N.D. missenseGGly [G]1215
contig referenceASer [S]1215
141978643895 rs1289617892 N.D. missenseCThr [T]2216
contig referenceALys [K]2216
141978647899 rs1326647108 N.D. missenseCPhe [F]3217
missenseTPhe [F]3217
synonymousALeu [L]3217
contig referenceGLeu [L]3217
141978653905 rs372427392 0.000 synonymousALeu [L]3219
contig referenceGLeu [L]3219
141978656908 rs1343727695 N.D. synonymousTCys [C]3220
contig referenceCCys [C]3220
141978659911 rs762537853 0.000 synonymousCSer [S]3221
contig referenceTSer [S]3221
141978660912 rs1273642317 N.D. missenseGVal [V]1222
contig referenceAIle [I]1222
141978666918 rs200092314 N.D.With1000GenomeData YesmissenseCLeu [L]1224
contig referenceTPhe [F]1224
141978668920 rs766052792 0.000 synonymousTPhe [F]3224
contig referenceCPhe [F]3224
141978673925 rs751223781 0.000byFreq missenseGGly [G]2226
contig referenceAGlu [E]2226
141978678930 rs376623642 0.000byCluster YesmissenseGVal [V]1228
contig referenceCLeu [L]1228
141978681933 rs1480888321 N.D. missenseASer [S]1229
contig referenceGGly [G]1229
141978682934 rs1184449655 N.D. missenseAAsp [D]2229
contig referenceGGly [G]2229
141978687939 rs909693868 N.D. missenseALys [K]1231
contig referenceGGlu [E]1231
141978693945 rs767735115 0.000 missenseGVal [V]1233
missenseTLeu [L]1233
contig referenceAMet [M]1233
141978694946 rs1472422491 N.D. missenseCThr [T]2233
contig referenceTMet [M]2233
141978695947 rs753111266 0.000 missenseAIle [I]3233
contig referenceGMet [M]3233
141978698950 rs146606807 0.001byClusterbyFreqWith1000GenomeData0.0024 YessynonymousTTyr [Y]3234
contig referenceCTyr [Y]3234
141978699951 rs756106893 0.000 missenseCLeu [L]1235
missenseGVal [V]1235
contig referenceTPhe [F]1235
141978702954 rs749863045 0.000 synonymousCLeu [L]1236
contig referenceTLeu [L]1236
141978709961 rs757299804 0.000byFreq missenseATyr [Y]2238
contig referenceGCys [C]2238
141978713965 rs1412148970 N.D. missenseTSer [S]3239
contig referenceGArg [R]3239
141978716968 rs1452817925 N.D. synonymousCHis [H]3240
contig referenceTHis [H]3240
141978722974 rs779016312 0.000 synonymousTTyr [Y]3242
contig referenceCTyr [Y]3242
141978730982 rs746025016 0.000 missenseAAsp [D]2245
contig referenceCAla [A]2245
141978739991 rs202193063 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2248
contig referenceALys [K]2248
141978742994 rs199953121 0.000byClusterbyFreq YesmissenseCAla [A]2249
contig referenceAAsp [D]2249
141978743995 rs1045589235 N.D. synonymousTAsp [D]3249
contig referenceCAsp [D]3249
141978745997 rs747984113 0.000byFreq missenseGCys [C]2250
contig referenceATyr [Y]2250
1419787581010 rs769769499 0.000byFreq missenseCHis [H]3254
missenseTHis [H]3254
synonymousAGln [Q]3254
contig referenceGGln [Q]3254
1419787741026 rs763023641 0.000 missenseAIle [I]1260
contig referenceGVal [V]1260
1419787781030 rs1288805276 N.D. missenseGArg [R]2261
contig referenceAGln [Q]2261
1419787791031 rs765963956 0.000byFreq synonymousGGln [Q]3261
contig referenceAGln [Q]3261
1419787811033 rs764681405 N.D.byCluster missenseTPhe [F]2262
contig referenceGCys [C]2262
1419787821034 rs773944964 0.000 synonymousTCys [C]3262
contig referenceCCys [C]3262
1419787871039 rs568227122 0.000With1000GenomeData0.0002 missenseGSer [S]2264
contig referenceAAsn [N]2264
1419787991051 rs1482754146 N.D. missenseTLeu [L]2268
contig referenceCPro [P]2268
1419788011053 rs1188701645 N.D. missenseGGlu [E]1269
contig referenceALys [K]1269
1419788031055 rs1239456478 N.D. synonymousALys [K]3269
contig referenceGLys [K]3269
1419788081060 rs767213510 0.000 missenseTLeu [L]2271
contig referenceCPro [P]2271
1419788111063 rs138098478 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]2272
contig referenceCSer [S]2272
1419788121064 rs756470735 0.000 synonymousASer [S]3272
contig referenceGSer [S]3272
1419788131065 rs764486654 0.000 missenseTLeu [L]1273
contig referenceGVal [V]1273
1419788251077 rs141717987 0.008byClusterbyFreqWith1000GenomeData0.0030 YesmissenseASer [S]1277
contig referenceGGly [G]1277
1419788261078 rs1259272683 N.D. missenseTVal [V]2277
contig referenceGGly [G]2277
1419788301082 rs1410972031 N.D. synonymousAGln [Q]3278
contig referenceGGln [Q]3278
1419801241084 rs773678358 0.000 missenseCAla [A]2279
contig referenceTVal [V]2279
1419801271087 rs759073992 0.000 missenseCThr [T]2280
contig referenceALys [K]2280
1419801421102 rs1339852618 N.D. frame shiftAArg [R]2286
contig reference-Glu [E]2286
1419801431103 rs1388870116 N.D. synonymousCAla [A]3285
contig referenceAAla [A]3285
1419801441104 rs1437041013 N.D. missenseCGln [Q]1286
contig referenceGGlu [E]1286
1419801451105 rs771553634 0.000 missenseCAla [A]2286
contig referenceAGlu [E]2286
1419801461106 rs369026481 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCAsp [D]3286
contig referenceGGlu [E]3286
1419801471107 rs1233875466 N.D. missenseGVal [V]1287
contig referenceTLeu [L]1287
1419801541114 rs760371788 0.000 missenseTVal [V]2289
contig referenceCAla [A]2289
1419801551115 rs764396561 0.000 synonymousTAla [A]3289
contig referenceCAla [A]3289
1419801561116 rs867791636 N.D.byCluster missenseTCys [C]1290
contig referenceCArg [R]1290
1419801571117 rs925768003 N.D. missenseAHis [H]2290
missenseCPro [P]2290
contig referenceGArg [R]2290
1419801581118 rs372835475 0.000byClusterbyFreq YessynonymousCArg [R]3290
contig referenceTArg [R]3290
1419801601120 rs1269041476 N.D. missenseGCys [C]2291
contig referenceATyr [Y]2291
1419801611121 rs201236187 0.000byClusterWith1000GenomeData0.0002 YessynonymousCTyr [Y]3291
contig referenceTTyr [Y]3291
1419801651125 rs376088806 0.000byCluster YesmissenseTCys [C]1293
contig referenceCArg [R]1293
1419801661126 rs750947038 0.000byFreq missenseAHis [H]2293
contig referenceGArg [R]2293
1419801741134 rs1434316714 N.D. missenseTPhe [F]1296
contig referenceCLeu [L]1296
1419801791139 rs758499796 0.000 synonymousAGln [Q]3297
contig referenceGGln [Q]3297
1419801811141 rs780038226 0.000 missenseATyr [Y]2298
contig referenceCSer [S]2298
1419801841144 rs1476775454 N.D. missenseTPhe [F]2299
contig referenceCSer [S]2299
1419801921152 rs751781284 0.000 synonymousTLeu [L]1302
contig referenceCLeu [L]1302
1419802011161 rs1388938632 N.D. missenseAAsn [N]1305
contig referenceGAsp [D]1305
1419802061166 rs755271840 0.000byFreq synonymousAVal [V]3306
synonymousCVal [V]3306
contig referenceGVal [V]3306
1419802161176 rs1237446489 N.D. missenseTSer [S]1310
contig referenceCPro [P]1310
1419802171177 rs1182534265 N.D. missenseTLeu [L]2310
contig referenceCPro [P]2310
1419802191179 rs1439648724 N.D. missenseTTrp [W]1311
contig referenceCArg [R]1311
1419802201180 rs953246535 N.D. missenseAGln [Q]2311
contig referenceGArg [R]2311
1419802211181 rs1249786559 N.D. synonymousAArg [R]3311
contig referenceGArg [R]3311
1419802231183 rs1387620829 N.D. missenseTLeu [L]2312
contig referenceCPro [P]2312
1419802241184 rs141694109 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]3312
synonymousCPro [P]3312
contig referenceGPro [P]3312
1419802311191 rs948313549 N.D. nonsenseT1315
contig referenceCGln [Q]1315
1419802351195 rs1325408568 N.D. missenseGArg [R]2316
contig referenceTLeu [L]2316
1419802361196 rs1329234766 N.D. synonymousALeu [L]3316
contig referenceGLeu [L]3316
1419802381198 rs770907142 0.000 missenseTLeu [L]2317
contig referenceCPro [P]2317
1419802401200 rs778906911 0.000 missenseAMet [M]1318
contig referenceGVal [V]1318
1419802421202 rs1245344826 N.D. synonymousCVal [V]3318
contig referenceGVal [V]3318
1419802431203 rs1191476745 N.D. missenseTLeu [L]1319
contig referenceAMet [M]1319
1419802451205 rs1331486913 N.D. missenseAIle [I]3319
contig referenceGMet [M]3319
1419802461206 rs369401378 0.000byClusterbyFreq nonsenseT1320
contig referenceCGln [Q]1320
1419802511211 rs1267954085 N.D. synonymousGGlu [E]3321
contig referenceAGlu [E]3321
1419802521212 rs771593152 0.000 missenseAThr [T]1322
missenseGAla [A]1322
contig referenceCPro [P]1322
1419802601220 rs1211966997 N.D. synonymousTCys [C]3324
contig referenceCCys [C]3324
1419802641224 rs898134216 N.D. missenseGVal [V]1326
contig referenceAMet [M]1326
1419802661226 rs1451483269 N.D. missenseAIle [I]3326
contig referenceGMet [M]3326
1419802681228 rs1306919894 N.D. missenseAAsp [D]2327
contig referenceGGly [G]2327
1419802701230 rs774887576 0.000 missenseGVal [V]1328
contig referenceAIle [I]1328
1419802721232 rs760283765 0.000 missenseGMet [M]3328
contig referenceCIle [I]3328
1419802751235 rs768298374 0.000 synonymousTCys [C]3329
contig referenceCCys [C]3329
1419802831243 rs1156477426 N.D. missenseATyr [Y]2332
contig referenceGCys [C]2332
1419802861246 rs776920783 0.000byFreq missenseGSer [S]2333
contig referenceAAsn [N]2333
1419802891249 rs1458249055 N.D. missenseCSer [S]2334
contig referenceTPhe [F]2334
1419802901250 rs61760881 N.D. synonymousCPhe [F]3334
contig referenceTPhe [F]3334
1419802931253 rs1164727953 N.D. synonymousTAla [A]3335
contig referenceCAla [A]3335
1419803041264 rs762148480 0.000 missenseCSer [S]2339
contig referenceTLeu [L]2339
1419803091269 rs1405159200 N.D. frame shiftGVal [V]1342
contig reference-Leu [L]1342
1419803111271 rs1386076858 N.D. missenseCSer [S]3341
synonymousAArg [R]3341
contig referenceGArg [R]3341
1419803121272 rs373147965 0.000byClusterbyFreq synonymousCLeu [L]1342
contig referenceTLeu [L]1342
1419803141274 rs1344259261 N.D. synonymousALeu [L]3342
contig referenceGLeu [L]3342
1419803151275 rs1305301911 N.D. missenseGAla [A]1343
contig referenceAThr [T]1343
1419803191279 rs750911334 0.000 missenseCSer [S]2344
contig referenceATyr [Y]2344
1419803201280 rs1403961194 N.D. synonymousTTyr [Y]3344
contig referenceCTyr [Y]3344
1419803221282 rs1408280172 N.D. missenseGArg [R]2345
contig referenceAHis [H]2345
1419803231283 rs1288002215 N.D. synonymousCHis [H]3345
contig referenceTHis [H]3345
1419803291289 rs764038475 N.D. synonymousTVal [V]3347
contig referenceCVal [V]3347
1419803311291 rs1225852404 N.D. missenseTPhe [F]2348
contig referenceCSer [S]2348
1419803351295 rs971692866 N.D. synonymousGPro [P]3349
contig referenceAPro [P]3349
1419803471307 rs147059342 0.003byClusterbyFreqWith1000GenomeData0.0042 synonymousCThr [T]3353
synonymousGThr [T]3353
contig referenceTThr [T]3353
1419833841316 rs147682722 0.000byClusterbyFreq synonymousGLys [K]3356
contig referenceALys [K]3356
1419833851317 rs770172556 0.000 synonymousCLeu [L]1357
contig referenceTLeu [L]1357
1419833971329 rs779502102 0.000 nonsenseT1361
missenseGGly [G]1361
synonymousAArg [R]1361
contig referenceCArg [R]1361
1419833981330 rs763475842 0.000 missenseAGln [Q]2361
contig referenceGArg [R]2361
1419834091341 rs766810386 0.000 synonymousTLeu [L]1365
contig referenceCLeu [L]1365
1419834161348 rs775057807 0.000byFreq missenseTVal [V]2367
contig referenceCAla [A]2367
1419834171349 rs750826178 N.D. synonymousAAla [A]3367
contig referenceGAla [A]3367
1419834241356 rs1188917134 N.D. missenseAThr [T]1370
contig referenceGAla [A]1370
1419834281360 rs759685165 0.000 missenseGSer [S]2371
contig referenceAAsn [N]2371
1419834281360 rs770279604 0.000 frame shift-Lys [K]2371
contig referenceATAsn [N]2371
1419834291361 rs533926397 0.000With1000GenomeData0.0002 synonymousCAsn [N]3371
contig referenceTAsn [N]3371
1419834331365 rs1460370686 N.D. synonymousCArg [R]1373
contig referenceAArg [R]1373
1419834351367 rs752948839 0.000 synonymousGArg [R]3373
contig referenceAArg [R]3373
1419834391371 rs1467818512 N.D. synonymousCLeu [L]1375
contig referenceTLeu [L]1375
1419834451377 rs758536240 N.D. nonsenseT1377
contig referenceCGln [Q]1377
1419834491381 rs554052474 0.000byFreqWith1000GenomeData0.0006 missenseALys [K]2378
contig referenceGArg [R]2378
1419834501382 rs371380661 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAArg [R]3378
contig referenceGArg [R]3378
1419834521384 rs758895817 N.D. missenseGCys [C]2379
contig referenceATyr [Y]2379
1419834531385 rs1436305337 N.D. synonymousCTyr [Y]3379
contig referenceTTyr [Y]3379
1419834581390 rs776055960 0.000 frame shift-Ser [S]2382
contig referenceAGArg [R]2382
1419834621394 rs1363647517 N.D. synonymousGArg [R]3382
contig referenceAArg [R]3382
1419834631395 rs1228301828 N.D. missenseTLeu [L]1383
contig referenceGVal [V]1383
1419834641396 rs750192221 0.000 missenseCAla [A]2383
contig referenceTVal [V]2383
1419834651397 rs758294962 0.000 synonymousAVal [V]3383
contig referenceGVal [V]3383
1419834761408 rs1211845327 N.D. missenseTVal [V]2387
contig referenceCAla [A]2387
1419834771409 rs1253907973 N.D. synonymousCAla [A]3387
contig referenceAAla [A]3387
1419834871419 rs779951131 0.000byFreq missenseTLeu [L]1391
contig referenceAMet [M]1391
1419834881420 rs1209129561 N.D. missenseCThr [T]2391
contig referenceTMet [M]2391
1419834991431 rs747011186 0.000byFreq missenseALys [K]1395
contig referenceGGlu [E]1395
1419835081440 rs754453508 0.006byFreq missenseALys [K]1398
contig referenceGGlu [E]1398
1419835091441 rs543175424 0.000With1000GenomeData0.0002 missenseGGly [G]2398
contig referenceAGlu [E]2398
1419835101442 rs562863482 0.002byFreqWith1000GenomeData0.0002 synonymousAGlu [E]3398
contig referenceGGlu [E]3398
1419835111443 rs576351387 0.000With1000GenomeData0.0002 missenseGGlu [E]1399
contig referenceALys [K]1399
1419835111443 rs1415965021 N.D. frame shift-Arg [R]1399
contig referenceALys [K]1399
1419835131445 rs747785306 0.000 synonymousALys [K]3399
contig referenceGLys [K]3399
1419835161448 rs769360850 0.000 missenseALys [K]3400
contig referenceCAsn [N]3400
1419835211453 rs773568838 0.000byFreq missenseGArg [R]2402
contig referenceALys [K]2402
1419835291461 rs1415469916 N.D. missenseAThr [T]1405
contig referenceCPro [P]1405
1419835321464 rs1428873389 N.D. missenseASer [S]1406
missenseCArg [R]1406
contig referenceTCys [C]1406
1419835331465 rs1457905235 N.D. missenseATyr [Y]2406
contig referenceGCys [C]2406
1419835341466 rs200277917 N.D.With1000GenomeData synonymousCCys [C]3406
contig referenceTCys [C]3406
1419835411473 rs1323048520 N.D. missenseGAla [A]1409
contig referenceAThr [T]1409
1419835471479 rs377452281 0.000byCluster missenseGVal [V]1411
contig referenceAIle [I]1411
1419835491481 rs771394669 0.000 synonymousCIle [I]3411
contig referenceAIle [I]3411
1419848061488 rs1290239972 N.D. synonymousCLeu [L]1414
contig referenceTLeu [L]1414
1419848091491 rs755710046 0.000 missenseCHis [H]1415
contig referenceGAsp [D]1415
1419848111493 rs370451068 0.000byClusterbyFreq synonymousTAsp [D]3415
contig referenceCAsp [D]3415
1419848121494 rs749010093 0.000 missenseAArg [R]1416
contig referenceGGly [G]1416
1419848131495 rs1391729305 N.D. missenseAGlu [E]2416
contig referenceGGly [G]2416
1419848141496 rs981587182 N.D. synonymousCGly [G]3416
contig referenceAGly [G]3416
1419848161498 rs750799067 N.D. missenseCSer [S]2417
contig referenceGCys [C]2417
1419848221504 rs771401411 0.000 missenseTMet [M]2419
contig referenceALys [K]2419
1419848251507 rs1454036549 N.D. missenseCThr [T]2420
contig referenceTMet [M]2420
1419848271509 rs779446352 0.000 missenseGAla [A]1421
contig referenceAThr [T]1421
1419848281510 rs1249913660 N.D. missenseTIle [I]2421
contig referenceCThr [T]2421
1419848291511 rs368004474 0.001byClusterbyFreqWith1000GenomeData0.0012 synonymousGThr [T]3421
contig referenceAThr [T]3421
1419848421524 rs1182876846 N.D. missenseGVal [V]1426
contig referenceAMet [M]1426
1419848431525 rs1416399518 N.D. missenseCThr [T]2426
contig referenceTMet [M]2426
1419848471529 rs772714133 0.000byFreq synonymousGGln [Q]3427
contig referenceAGln [Q]3427
1419848491531 rs1380213450 N.D. missenseGCys [C]2428
contig referenceATyr [Y]2428
1419848501532 rs1163471930 N.D. nonsenseG3428
contig referenceTTyr [Y]3428
1419848661548 rs1371672082 N.D. missenseCLeu [L]1434
missenseGVal [V]1434
contig referenceAMet [M]1434
1419848671549 rs558505824 0.000byFreqWith1000GenomeData0.0002 missenseGArg [R]2434
contig referenceTMet [M]2434
1419848741556 rs61753579 0.010byClusterbyFreqWith1000GenomeData0.0162 synonymousCSer [S]3436
contig referenceTSer [S]3436
1419848751557 rs1333624615 N.D. missenseGVal [V]1437
missenseTPhe [F]1437
contig referenceCLeu [L]1437
1419848771559 rs768845108 0.000 synonymousTLeu [L]3437
contig referenceCLeu [L]3437
1419848791561 rs150237988 0.000byCluster missenseTPhe [F]2438
contig referenceCSer [S]2438
1419848841566 rs762141519 0.000 missenseAThr [T]1440
contig referenceGAla [A]1440
1419848851567 rs545110749 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGlu [E]2440
missenseGGly [G]2440
contig referenceCAla [A]2440
1419848891571 rs1290984003 N.D. missenseALys [K]3441
contig referenceCAsn [N]3441
1419848911573 rs751385492 0.000byFreq missenseGArg [R]2442
contig referenceCPro [P]2442
1419848921574 rs200081623 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGPro [P]3442
contig referenceTPro [P]3442
1419848951577 rs767430881 0.000 nonsenseA3443
nonsenseG3443
synonymousTTyr [Y]3443
contig referenceCTyr [Y]3443
1419848971579 rs774958417 0.000 -Asn [N]2444
1419849011583 rs752749361 0.000 missenseGGln [Q]3445
contig referenceTHis [H]3445
1419849061588 rs138952656 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGSer [S]2447
contig referenceAAsn [N]2447
1419849101592 rs777392165 0.000 missenseAGlu [E]3448
contig referenceCAsp [D]3448
1419849111593 rs1213396099 N.D. missenseTSer [S]1449
contig referenceCPro [P]1449
1419849121594 rs753386817 0.000byFreq missenseGArg [R]2449
contig referenceCPro [P]2449
1419849161598 rs1391341910 N.D. synonymousCGly [G]3450
contig referenceTGly [G]3450
1419849221604 rs1451804428 N.D. synonymousGPro [P]3452
contig referenceAPro [P]3452
1419849321614 rs201856613 0.000byClusterWith1000GenomeData0.0002 missenseTTrp [W]1456
contig referenceCArg [R]1456
1419849331615 rs779355497 0.000byFreq missenseAGln [Q]2456
contig referenceGArg [R]2456
1419877351618 rs1389077711 N.D. missenseAGln [Q]2457
contig referenceTLeu [L]2457
1419877451628 rs758800339 0.000 synonymousCAla [A]3460
contig referenceTAla [A]3460
1419877501633 rs1317478538 N.D. missenseCAla [A]2462
contig referenceAAsp [D]2462
1419877521635 rs1316172001 N.D. missenseAIle [I]1463
contig referenceGVal [V]1463
1419877531636 rs780513365 0.000 missenseCAla [A]2463
contig referenceTVal [V]2463
1419877541637 rs747422748 0.000 synonymousAVal [V]3463
contig referenceTVal [V]3463
1419877551638 rs79595443 N.D.byCluster missenseTTyr [Y]1464
contig referenceGAsp [D]1464
1419877561639 rs1276624636 N.D. missenseCAla [A]2464
contig referenceAAsp [D]2464
1419877571640 rs755539041 0.000 synonymousTAsp [D]3464
contig referenceCAsp [D]3464
1419877581641 rs781066549 0.000 missenseAAsn [N]1465
contig referenceGAsp [D]1465
1419877591642 rs748239865 0.000 missenseGGly [G]2465
contig referenceAAsp [D]2465
1419877601643 rs1331628586 N.D. synonymousTAsp [D]3465
contig referenceCAsp [D]3465
1419877611644 rs769930159 0.000byFreq missenseAAsn [N]1466
contig referenceGAsp [D]1466
1419877631646 rs1261664198 N.D. synonymousCAsp [D]3466
contig referenceTAsp [D]3466
1419877701653 rs1452630584 N.D. missenseCGln [Q]1469
contig referenceGGlu [E]1469
1419877781661 rs149426962 0.000byClusterbyFreq missenseCAsp [D]3471
contig referenceGGlu [E]3471
1419877791662 rs143042506 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseCLeu [L]1472
missenseTLeu [L]1472
contig referenceGVal [V]1472
1419877801663 rs1479281651 N.D. missenseCAla [A]2472
contig referenceTVal [V]2472
1419877851668 rs775390227 0.000 missenseCHis [H]1474
contig referenceGAsp [D]1474
1419879361819 rs1353144789 N.D. -
1419883902273 rs943820587 N.D. -
1419891173000 rs1446254787 N.D. -
1419891513034 rs1190192702 N.D. -
1419892593142 rs1367563190 N.D. -
1419896873570 rs1422450309 N.D. -
1419896913574 rs749606811 N.D.byCluster -
1419896923575 rs562296945 N.D.byCluster -
1419896933576 rs72035790 0.137byClusterbyFreqWith1000GenomeData0.0737 -
1419896933576 rs1318516712 N.D. -
1419896943577 rs771646951 N.D.byCluster -
1419897113594 rs1167226854 N.D. -
1419900733956 rs1425513843 N.D. -