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SNP linked to Gene (geneID:1959) 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): 7
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000399.3minus strandNP_000390.2reverseNT_030059.14GRCh38.p7<- currently shown
XM_011539427.1minus strandXP_011537729.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001321037.1minus strandNP_001307966.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001136179.2minus strandNP_001129651.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001136178.1minus strandNP_001129650.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001136177.2minus strandNP_001129649.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_000399.4minus strandNP_000390.2reverseNT_030059.14GRCh38.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_030059.14NM_000399.3NP_000390.2reverseminus strand419, 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
628132081767 rs1219747226 N.D. CSer [S]2477
contig referenceG2477
628132091766 rs887249463 N.D. CArg [R]1477
contig referenceT1477
628132101765 rs377518489 0.000byClusterbyFreq synonymousAPro [P]3476
contig referenceTPro [P]3476
628132131762 rs763962706 0.000 synonymousCThr [T]3475
synonymousGThr [T]3475
contig referenceAThr [T]3475
628132141761 rs1286435268 N.D. missenseTIle [I]2475
contig referenceCThr [T]2475
628132171758 rs370111045 0.000byCluster missenseAGln [Q]2474
contig referenceGArg [R]2474
628132181757 rs757007626 0.000 synonymousAArg [R]1474
contig referenceCArg [R]1474
628132191756 rs1283028451 N.D. synonymousTThr [T]3473
contig referenceCThr [T]3473
628132231752 rs1199660484 N.D. missenseAGln [Q]2472
contig referenceGArg [R]2472
628132241751 rs1353824847 N.D. missenseGGly [G]1472
missenseTTrp [W]1472
synonymousAArg [R]1472
contig referenceCArg [R]1472
628132361739 rs374833463 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTSer [S]1468
contig referenceCPro [P]1468
628132391736 rs146116229 0.001byClusterbyFreqWith1000GenomeData0.0018 missenseAThr [T]1467
missenseCPro [P]1467
contig referenceGAla [A]1467
628132401735 rs1483612429 N.D. synonymousALeu [L]3466
synonymousTLeu [L]3466
contig referenceCLeu [L]3466
628132431732 rs779811073 0.000byFreq synonymousAPro [P]3465
contig referenceGPro [P]3465
628132431725 rs1204845025 N.D. frame shift-Ala [A]2463
contig reference(8bp)Gly [G]2463
628132511724 rs367816301 0.000byClusterbyFreq missenseAArg [R]1463
contig referenceGGly [G]1463
628132521723 rs768284273 0.000byFreq synonymousGGly [G]3462
synonymousTGly [G]3462
contig referenceCGly [G]3462
628132571718 rs904871551 N.D. missenseGVal [V]1461
contig referenceCLeu [L]1461
628132671708 rs1367902053 N.D. synonymousTAsn [N]3457
contig referenceCAsn [N]3457
628132681707 rs777234760 0.000 missenseGSer [S]2457
contig referenceAAsn [N]2457
628132691706 rs748686483 0.000 missenseGAsp [D]1457
missenseTTyr [Y]1457
contig referenceAAsn [N]1457
628132731702 rs967146113 N.D. synonymousTSer [S]3455
contig referenceCSer [S]3455
628132741701 rs770380866 0.000 missenseTIle [I]2455
contig referenceGSer [S]2455
628132771698 rs1428918668 N.D. missenseATyr [Y]2454
contig referenceGCys [C]2454
628132811694 rs773417175 0.000 synonymousTLeu [L]1453
contig referenceCLeu [L]1453
628132821693 rs1404283219 N.D. synonymousTThr [T]3452
contig referenceCThr [T]3452
628132861689 rs138967272 0.002byClusterbyFreqWith1000GenomeData0.0034 missenseAAsp [D]2451
missenseTVal [V]2451
contig referenceGGly [G]2451
628132891686 rs1032405898 N.D. missenseCAla [A]2450
contig referenceGGly [G]2450
628132911684 rs1338141243 N.D. synonymousCPro [P]3449
contig referenceTPro [P]3449
628132931682 rs774569804 0.000 missenseTSer [S]1449
contig referenceCPro [P]1449
628132961679 rs1056143887 N.D. missenseALys [K]1448
contig referenceCGln [Q]1448
628132991676 rs759547856 0.000byFreq missenseAMet [M]1447
missenseTLeu [L]1447
contig referenceGVal [V]1447
628133011674 rs748373844 0.000byClusterbyFreq missenseAAsp [D]2446
missenseTVal [V]2446
contig referenceGGly [G]2446
628133021673 rs1424128994 N.D. missenseASer [S]1446
contig referenceGGly [G]1446
628133061669 rs757121895 0.000 synonymousCSer [S]3444
contig referenceTSer [S]3444
628133121663 rs1249919988 N.D. synonymousTSer [S]3442
contig referenceCSer [S]3442
628133131662 rs1484530202 N.D. missenseTPhe [F]2442
contig referenceCSer [S]2442
628133151660 rs1201488766 N.D. synonymousTAla [A]3441
contig referenceCAla [A]3441
628133211654 rs1255586751 N.D. synonymousASer [S]3439
contig referenceTSer [S]3439
628133271648 rs765263548 0.000 synonymousAAla [A]3437
contig referenceCAla [A]3437
628133281647 rs1009267872 N.D. missenseTVal [V]2437
contig referenceCAla [A]2437
628133351640 rs750183887 0.000 missenseCLeu [L]1435
contig referenceGVal [V]1435
628133361639 rs570448112 0.000With1000GenomeData0.0002 synonymousASer [S]3434
contig referenceGSer [S]3434
628133371638 rs779781939 0.000byFreq missenseTLeu [L]2434
contig referenceCSer [S]2434
628133471628 rs534286872 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]1431
contig referenceCPro [P]1431
628133491626 rs1379109440 N.D. missenseGGly [G]2430
contig referenceCAla [A]2430
628133541621 rs754485850 0.000 missenseAArg [R]3428
contig referenceCSer [S]3428
628133611614 rs780825035 0.000byFreq missenseAGln [Q]2426
missenseCPro [P]2426
contig referenceGArg [R]2426
628133621613 rs1399940359 N.D. missenseTTrp [W]1426
contig referenceCArg [R]1426
628133711604 rs1020746203 N.D. nonsenseT1423
contig referenceCGln [Q]1423
628133811594 rs747698852 0.000byFreq synonymousTIle [I]3419
contig referenceCIle [I]3419
628133881587 rs770196824 0.000byFreq missenseGSer [S]2417
contig referenceCThr [T]2417
628133941581 rs1422314988 N.D. missenseTLeu [L]2415
contig referenceGArg [R]2415
628133961579 rs554456422 0.000byFreqWith1000GenomeData0.0006 synonymousALys [K]3414
contig referenceGLys [K]3414
628134031572 rs749558026 0.000 missenseGGly [G]2412
contig referenceAGlu [E]2412
628134091566 rs1314259277 N.D. missenseAAsn [N]2410
contig referenceGSer [S]2410
628134111564 rs1234400574 N.D. synonymousAArg [R]3409
contig referenceGArg [R]3409
628134141561 rs1322033315 N.D. synonymousTAla [A]3408
contig referenceCAla [A]3408
628134281547 rs1210737061 N.D. missenseASer [S]1404
contig referenceGGly [G]1404
628134291546 rs1268773927 N.D. synonymousCCys [C]3403
contig referenceTCys [C]3403
628134331542 rs1205621340 N.D. missenseGCys [C]2402
contig referenceATyr [Y]2402
628134351540 rs1464637425 N.D. missenseGGlu [E]3401
contig referenceCAsp [D]3401
628134431532 rs771331587 0.000 missenseTSer [S]1399
contig referenceGAla [A]1399
628134441531 rs371997981 0.000byCluster YessynonymousTPhe [F]3398
contig referenceCPhe [F]3398
628134511524 rs199661625 N.D.With1000GenomeData YesmissenseGArg [R]2396
contig referenceALys [K]2396
628134581517 rs1272471096 N.D. missenseASer [S]1394
contig referenceGGly [G]1394
628134591516 rs965148587 N.D. synonymousTThr [T]3393
contig referenceCThr [T]3393
628134621513 rs1197899388 N.D. synonymousTHis [H]3392
contig referenceCHis [H]3392
628134651510 rs759778651 0.000 synonymousAThr [T]3391
synonymousGThr [T]3391
synonymousTThr [T]3391
contig referenceCThr [T]3391
628134801495 rs767778723 0.000 synonymousTThr [T]3386
contig referenceCThr [T]3386
628134831492 rs1004335545 N.D. synonymousTLeu [L]3385
contig referenceCLeu [L]3385
628134891486 rs762387092 N.D. synonymousTAsp [D]3383
contig referenceCAsp [D]3383
628135011474 rs775518833 0.000byFreq synonymousTPhe [F]3379
contig referenceCPhe [F]3379
628135051470 rs901361926 N.D. missenseGSer [S]2378
contig referenceAAsn [N]2378
628135131462 rs1455338669 N.D. synonymousTCys [C]3375
contig referenceCCys [C]3375
628135151460 rs1383783515 N.D. missenseCArg [R]1375
contig referenceTCys [C]1375
628135251450 rs760879900 0.000 synonymousAGln [Q]3371
contig referenceGGln [Q]3371
628135371438 rs866285493 N.D.byCluster missenseGGln [Q]3367
contig referenceTHis [H]3367
628135461429 rs1296242930 N.D. synonymousTHis [H]3364
contig referenceCHis [H]3364
628135481415 rs1367834689 N.D. frame shift-Thr [T]1360
contig reference(13bp)His [H]1360
628135521423 rs45602133 0.077byClusterbyFreqWith1000GenomeData0.0769 YessynonymousCArg [R]3362
contig referenceAArg [R]3362
628135551420 rs750375338 0.000 synonymousAIle [I]3361
contig referenceCIle [I]3361
628135561419 rs762614182 0.000 missenseGSer [S]2361
contig referenceTIle [I]2361
628135571418 rs147417827 0.000byCluster YesmissenseGVal [V]1361
contig referenceAIle [I]1361
628135581417 rs766297007 0.000 synonymousTHis [H]3360
contig referenceCHis [H]3360
628135691406 rs1268870102 N.D. synonymousTLeu [L]1357
contig referenceCLeu [L]1357
628135761399 rs953028414 N.D. synonymousCSer [S]3354
contig referenceTSer [S]3354
628135851390 rs754645141 0.000byFreq synonymousTPhe [F]3351
contig referenceCPhe [F]3351
628135871388 rs199827583 N.D.byCluster YesmissenseGVal [V]1351
contig referenceTPhe [F]1351
628135881387 rs781058000 0.000byFreq synonymousCArg [R]3350
synonymousTArg [R]3350
contig referenceGArg [R]3350
628135921383 rs1209034513 N.D. missenseTLeu [L]2349
contig referenceGArg [R]2349
628135931382 rs1266427021 N.D. missenseTTrp [W]1349
contig referenceCArg [R]1349
628135961379 rs752133958 0.000 missenseAAsn [N]1348
contig referenceGAsp [D]1348
628135971378 rs1182754559 N.D. synonymousTCys [C]3347
contig referenceCCys [C]3347
628136051370 rs1411119456 N.D. missenseALys [K]1345
contig referenceGGlu [E]1345
628136151360 rs542854133 0.000byFreqWith1000GenomeData0.0002 synonymousAPro [P]3341
synonymousCPro [P]3341
contig referenceGPro [P]3341
628136181357 rs554727782 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3340
contig referenceCTyr [Y]3340
628136211354 rs1457048174 N.D. synonymousTPro [P]3339
contig referenceCPro [P]3339
628136231352 rs1021297519 N.D. missenseTSer [S]1339
contig referenceCPro [P]1339
628136261349 rs1302955546 N.D. missenseGGly [G]1338
contig referenceAArg [R]1338
628136301345 rs1370482187 N.D. synonymousTHis [H]3336
contig referenceCHis [H]3336
628136321343 rs1364048705 N.D. missenseTTyr [Y]1336
contig referenceCHis [H]1336
628136361339 rs771108987 N.D.byCluster synonymousAPro [P]3334
synonymousCPro [P]3334
synonymousTPro [P]3334
contig referenceGPro [P]3334
628136371338 rs1289564210 N.D. missenseTLeu [L]2334
contig referenceCPro [P]2334
628136391336 rs771238317 0.000 synonymousAThr [T]3333
contig referenceGThr [T]3333
628136471328 rs984165267 N.D. missenseGGly [G]1331
contig referenceASer [S]1331
628136501325 rs750554857 N.D. missenseTSer [S]1330
contig referenceCPro [P]1330
628136531322 rs1391490678 N.D. missenseGGly [G]1329
contig referenceAArg [R]1329
628136551320 rs779229640 0.000 missenseGSer [S]2328
contig referenceAAsn [N]2328
628136601315 rs1322557260 N.D. synonymousTTyr [Y]3326
contig referenceCTyr [Y]3326
628136611314 rs1365760261 N.D. missenseTPhe [F]2326
contig referenceATyr [Y]2326
628136681307 rs746273681 0.000 missenseTCys [C]1324
contig referenceCArg [R]1324
628136711304 rs1182621562 N.D. missenseAThr [T]1323
contig referenceCPro [P]1323
628136721303 rs1289352288 N.D. synonymousAArg [R]3322
contig referenceGArg [R]3322
628136811294 rs772281054 0.000 synonymousTPro [P]3319
contig referenceCPro [P]3319
628136821293 rs1205570865 N.D. missenseAHis [H]2319
contig referenceCPro [P]2319
628136851290 rs775751575 0.000 missenseAGln [Q]2318
contig referenceGArg [R]2318
628136861289 rs1251081208 N.D. synonymousAArg [R]1318
contig referenceCArg [R]1318
628136891286 rs760602079 0.000 synonymousTLeu [L]1317
contig referenceCLeu [L]1317
628136971278 rs768808272 0.000byFreq missenseCPro [P]2314
contig referenceAHis [H]2314
628137001275 rs772972643 0.000byFreq missenseCPro [P]2313
contig referenceAHis [H]2313
628137061269 rs762923017 0.000 missenseTIle [I]2311
contig referenceAAsn [N]2311
628137091266 rs967096889 N.D. missenseGCys [C]2310
contig referenceATyr [Y]2310
628137111262 rs754873661 0.320 -1309
628137111256 rs758019499 0.000byFreq -1307
628137111259 rs764794586 N.D. -1308
628137161259 rs766458625 0.000byFreq missenseAThr [T]1308
contig referenceGAla [A]1308
628137171258 rs751393520 0.000 synonymousAAla [A]3307
synonymousTAla [A]3307
contig referenceCAla [A]3307
628137191256 rs1243202484 N.D. missenseAThr [T]1307
contig referenceGAla [A]1307
628137231252 rs759462455 0.000byFreq synonymousAAla [A]3305
synonymousTAla [A]3305
contig referenceCAla [A]3305
628137261249 rs752399953 N.D. synonymousAAla [A]3304
contig referenceCAla [A]3304
628137271246 rs777368486 0.002byFreq -3309
628137271248 rs1440557742 N.D. missenseTVal [V]2304
contig referenceCAla [A]2304
628137281247 rs1304694861 N.D. missenseAThr [T]1304
contig referenceGAla [A]1304
628137291246 rs112474655 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousCAla [A]3303
contig referenceAAla [A]3303
628137301245 rs777367425 0.000 missenseTVal [V]2303
contig referenceCAla [A]2303
628137311244 rs1456482795 N.D. missenseCPro [P]1303
contig referenceGAla [A]1303
628137411234 rs753339670 0.000 synonymousGSer [S]3299
contig referenceASer [S]3299
628137491226 rs1344582994 N.D. missenseGGly [G]1297
contig referenceASer [S]1297
628137531222 rs1178349920 N.D. synonymousCPro [P]3295
contig referenceTPro [P]3295
628137591216 rs543533673 0.000byFreqWith1000GenomeData0.0002 synonymousAArg [R]3293
contig referenceGArg [R]3293
628137611214 rs371616981 0.000byCluster missenseTTrp [W]1293
contig referenceCArg [R]1293
628137631212 rs1273584502 N.D. missenseAHis [H]2292
missenseTLeu [L]2292
contig referenceCPro [P]2292
628137641211 rs746222548 0.000 missenseTSer [S]1292
contig referenceCPro [P]1292
628137681207 rs532829227 0.000byClusterbyFreq synonymousAGlu [E]3290
contig referenceGGlu [E]3290
628137711204 rs1237959595 N.D. synonymousTSer [S]3289
contig referenceCSer [S]3289
628137751200 rs774265100 N.D. missenseTVal [V]2288
contig referenceGGly [G]2288
628137761199 rs759852948 N.D. missenseTCys [C]1288
contig referenceGGly [G]1288
628137811194 rs565202571 0.000With1000GenomeData0.0002 missenseAAsn [N]2286
contig referenceGSer [S]2286
628137831192 rs1482664117 N.D. synonymousTAla [A]3285
contig referenceCAla [A]3285
628137841191 rs1181205792 N.D. missenseAAsp [D]2285
contig referenceCAla [A]2285
628137911184 rs1249572398 N.D. missenseGAla [A]1283
contig referenceCPro [P]1283
628137941181 rs1449637341 N.D. missenseAArg [R]1282
contig referenceGGly [G]1282
628137951180 rs375890313 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGThr [T]3281
synonymousTThr [T]3281
contig referenceCThr [T]3281
628137981177 rs563282095 0.000byClusterbyFreq synonymousCVal [V]3280
contig referenceGVal [V]3280
628138021173 rs1202545357 N.D. missenseTVal [V]2279
contig referenceGGly [G]2279
628138041171 rs908584883 N.D. synonymousCAla [A]3278
contig referenceTAla [A]3278
628138061169 rs565355765 0.000byClusterbyFreq missenseAThr [T]1278
contig referenceGAla [A]1278
628138081167 rs761862879 0.000byFreq missenseAAsn [N]2277
missenseCThr [T]2277
contig referenceGSer [S]2277
628138111164 rs1221295856 N.D. missenseTLeu [L]2276
contig referenceCPro [P]2276
628138121163 rs774442561 0.000 missenseAThr [T]1276
contig referenceCPro [P]1276
628138141161 rs759339694 0.000 missenseTVal [V]2275
contig referenceGGly [G]2275
628138161159 rs1334775177 N.D. synonymousAGly [G]3274
contig referenceGGly [G]3274
628138181157 rs988041232 N.D.byCluster missenseCArg [R]1274
contig referenceGGly [G]1274
628138191156 rs767452033 0.000 synonymousALeu [L]3273
contig referenceGLeu [L]3273
628138231152 rs774959041 0.000 missenseTIle [I]2272
contig referenceCThr [T]2272
628138241151 rs760353922 0.000 missenseCPro [P]1272
contig referenceAThr [T]1272
628138301145 rs1231127548 N.D. missenseGAsp [D]1270
contig referenceAAsn [N]1270
628138311144 rs1367488546 N.D. synonymousCArg [R]3269
contig referenceTArg [R]3269
628138321143 rs1425470469 N.D. missenseTLeu [L]2269
contig referenceGArg [R]2269
628138361139 rs763697987 0.000 missenseGVal [V]1268
contig referenceAIle [I]1268
628138371138 rs758589570 0.000byClusterbyFreq synonymousTThr [T]3267
contig referenceAThr [T]3267
628138381137 rs756821902 0.000 missenseALys [K]2267
contig referenceCThr [T]2267
628138391136 rs1041555586 N.D. missenseGAla [A]1267
contig referenceAThr [T]1267
628138431132 rs1311519822 N.D. synonymousTLeu [L]3265
contig referenceCLeu [L]3265
628138451130 rs1201245940 N.D. missenseGVal [V]1265
contig referenceCLeu [L]1265
628138491126 rs765678040 0.000 synonymousCThr [T]3263
contig referenceTThr [T]3263
628138541121 rs1269405643 N.D. missenseGVal [V]1262
contig referenceCLeu [L]1262
628138581117 rs1465091838 N.D. synonymousAPro [P]3260
contig referenceTPro [P]3260
628138611114 rs750955966 0.000byCluster synonymousGPro [P]3259
contig referenceCPro [P]3259
628138631112 rs1239983652 N.D. missenseAThr [T]1259
contig referenceCPro [P]1259
628138641111 rs758709729 0.000byCluster synonymousAVal [V]3258
contig referenceGVal [V]3258
628138661109 rs776440321 N.D.byCluster missenseAMet [M]1258
missenseCLeu [L]1258
contig referenceGVal [V]1258
628138681107 rs780441708 0.000 missenseAGln [Q]2257
contig referenceGArg [R]2257
628138691106 rs368282744 0.000byCluster synonymousAArg [R]1257
contig referenceCArg [R]1257
628138721103 rs747371531 0.000 synonymousTLeu [L]1256
contig referenceCLeu [L]1256
628138731102 rs1174378727 N.D. synonymousTThr [T]3255
contig referenceCThr [T]3255
628138741101 rs200910043 0.000byClusterWith1000GenomeData0.0002 missenseGSer [S]2255
missenseTIle [I]2255
contig referenceCThr [T]2255
628138851090 rs781325226 0.000 synonymousTCys [C]3251
contig referenceCCys [C]3251
628138901085 rs201264628 0.002byCluster missenseAThr [T]1250
missenseTSer [S]1250
contig referenceCPro [P]1250
628138961079 rs1390200624 N.D. missenseGAla [A]1248
contig referenceCPro [P]1248
628138971078 rs748179879 0.000 synonymousALys [K]3247
contig referenceGLys [K]3247
628138981077 rs769998360 0.000 missenseCThr [T]2247
contig referenceALys [K]2247
628139021073 rs774391305 0.000byFreq missenseTCys [C]1246
contig referenceCArg [R]1246
628139031072 rs1275161182 N.D. synonymousTAsp [D]3245
contig referenceCAsp [D]3245
628139051070 rs745823802 0.000byFreq missenseAAsn [N]1245
contig referenceGAsp [D]1245
628139081067 rs1221566667 N.D. missenseTSer [S]1244
contig referenceCPro [P]1244
628139121063 rs771954217 0.000byFreq synonymousGAla [A]3242
contig referenceTAla [A]3242
628139151060 rs1329305314 N.D. synonymousGThr [T]3241
contig referenceAThr [T]3241
628139191056 rs775326892 0.000byFreq missenseTVal [V]2240
contig referenceGGly [G]2240
628139211054 rs1281788488 N.D. missenseGGln [Q]3239
synonymousCHis [H]3239
contig referenceTHis [H]3239
628139221053 rs760456822 0.000 missenseGArg [R]2239
contig referenceAHis [H]2239
628139261049 rs1224261401 N.D. missenseAIle [I]1238
contig referenceCLeu [L]1238
628139271048 rs1011150442 N.D. missenseAGlu [E]3237
contig referenceCAsp [D]3237
628139291046 rs1480416022 N.D. missenseTTyr [Y]1237
contig referenceGAsp [D]1237
628139381037 rs763792577 0.000 missenseGGly [G]1234
contig referenceTCys [C]1234
628139431032 rs766543445 N.D. missenseTPhe [F]2232
contig referenceCSer [S]2232
628139451030 rs776165437 0.000 synonymousGPro [P]3231
contig referenceAPro [P]3231
628139481027 rs761250551 0.000 synonymousCPhe [F]3230
contig referenceTPhe [F]3230
628139541021 rs1021225769 N.D. synonymousTGly [G]3228
contig referenceAGly [G]3228
628139561019 rs764745834 0.000 missenseAArg [R]1228
contig referenceGGly [G]1228
628139571018 rs749981503 0.000 synonymousCPro [P]3227
contig referenceTPro [P]3227
628139611014 rs1298348387 N.D. missenseCSer [S]2226
contig referenceATyr [Y]2226
628139661009 rs1316462117 N.D. synonymousGPro [P]3224
contig referenceAPro [P]3224
628139681007 rs758869303 0.000byFreq missenseAThr [T]1224
contig referenceCPro [P]1224
628139691006 rs766860417 0.000 synonymousAIle [I]3223
contig referenceCIle [I]3223
628139731002 rs530614586 0.000byClusterbyFreq missenseCThr [T]2222
contig referenceTMet [M]2222
628139741001 rs755310380 0.000 missenseGVal [V]1222
contig referenceAMet [M]1222
62813993982 rs781408172 0.000byFreq synonymousAThr [T]3215
synonymousCThr [T]3215
contig referenceGThr [T]3215
62813994981 rs139147487 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]2215
contig referenceCThr [T]2215
62814000975 rs1277208478 N.D. missenseTLeu [L]2213
contig referenceCPro [P]2213
62814005970 rs1371089090 N.D. synonymousGPro [P]3211
contig referenceCPro [P]3211
62814008967 rs1022830303 N.D. synonymousTSer [S]3210
contig referenceCSer [S]3210
62814013962 rs749421476 0.000 missenseAThr [T]1209
contig referenceCPro [P]1209
62814021954 rs1447197710 N.D. missenseTLeu [L]2206
contig referenceCPro [P]2206
62814025950 rs936268533 N.D. missenseTSer [S]1205
contig referenceCPro [P]1205
62814026949 rs772044885 0.000 synonymousGPro [P]3204
contig referenceAPro [P]3204
62814029946 rs775350294 0.000 synonymousTPro [P]3203
contig referenceAPro [P]3203
62814030945 rs1055082588 N.D. missenseAGln [Q]2203
missenseTLeu [L]2203
contig referenceCPro [P]2203
62814035940 rs746763888 0.000 synonymousTAla [A]3201
contig referenceCAla [A]3201
62814041933 rs750792592 N.D.byCluster CTCSer [S]2199
62814042933 rs768344815 0.000 missenseATyr [Y]2199
contig referenceCSer [S]2199
62814047928 rs1362094368 N.D. synonymousCSer [S]3197
contig referenceTSer [S]3197
62814049926 rs1471588503 N.D.byCluster missenseAThr [T]1197
missenseGAla [A]1197
contig referenceTSer [S]1197
62814057918 rs1269313182 N.D. missenseTIle [I]2194
contig referenceCThr [T]2194
62814071904 rs1461306330 N.D. synonymousALeu [L]3189
contig referenceGLeu [L]3189
62814074901 rs776212792 0.000 synonymousTPhe [F]3188
contig referenceCPhe [F]3188
62814076899 rs561006361 N.D.byCluster missenseCLeu [L]1188
contig referenceTPhe [F]1188
62814077898 rs144739493 0.000byClusterbyFreq synonymousAAla [A]3187
contig referenceGAla [A]3187
62814078897 rs372491511 0.000byCluster missenseTVal [V]2187
contig referenceCAla [A]2187
62814089886 rs761429712 0.000 missenseCHis [H]3183
synonymousAGln [Q]3183
contig referenceGGln [Q]3183
62814090885 rs769473870 0.000 missenseGArg [R]2183
contig referenceAGln [Q]2183
62814098877 rs200913249 0.000byClusterbyFreq synonymousTAsp [D]3180
contig referenceCAsp [D]3180
62814099876 rs762505978 0.000 missenseTVal [V]2180
contig referenceAAsp [D]2180
62814102873 rs766849667 0.000 missenseCAla [A]2179
contig referenceGGly [G]2179
62814103872 rs1314006597 N.D. missenseAArg [R]1179
contig referenceGGly [G]1179
62814104871 rs370084216 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGAla [A]3178
contig referenceAAla [A]3178
62814106869 rs1244249285 N.D. missenseAThr [T]1178
missenseTSer [S]1178
contig referenceGAla [A]1178
62814109866 rs759904196 0.000 missenseCArg [R]1177
contig referenceTCys [C]1177
62814118856 rs756443238 0.000byFreq CCTPro [P]3173
62814125850 rs1195680591 N.D. synonymousGPro [P]3171
contig referenceTPro [P]3171
62814126849 rs1249003592 N.D. missenseTLeu [L]2171
contig referenceCPro [P]2171
62814128847 rs563448629 0.000byFreqWith1000GenomeData0.0002 synonymousGPro [P]3170
contig referenceTPro [P]3170
62814132843 rs1266842158 N.D. missenseTLeu [L]2169
contig referenceCPro [P]2169
62814133842 rs753161591 0.000 missenseTSer [S]1169
contig referenceCPro [P]1169
62814137838 rs756375039 0.000byFreq synonymousAPro [P]3167
contig referenceGPro [P]3167
62814139836 rs1351020010 N.D. missenseAThr [T]1167
contig referenceCPro [P]1167
62814159816 rs540478439 N.D. missenseCAla [A]2160
contig referenceAAsp [D]2160
62814162813 rs1170260835 N.D. missenseTLeu [L]2159
contig referenceCPro [P]2159
62814163812 rs778210403 0.000 missenseAThr [T]1159
contig referenceCPro [P]1159
62814164811 rs1341233825 N.D. missenseCHis [H]3158
contig referenceGGln [Q]3158
62814167808 rs1461443226 N.D. synonymousTThr [T]3157
contig referenceCThr [T]3157
62814169806 rs753956133 0.000 missenseTSer [S]1157
contig referenceAThr [T]1157
62814172803 rs1427226232 N.D. missenseALys [K]1156
contig referenceCGln [Q]1156
62814178797 rs757301326 0.000 missenseGVal [V]1154
contig referenceAMet [M]1154
62814180795 rs1414598345 N.D. missenseTIle [I]2153
contig referenceCThr [T]2153
62814181794 rs202183386 0.000byClusterbyFreq missenseCPro [P]1153
contig referenceAThr [T]1153
62814185790 rs940017681 N.D. synonymousAVal [V]3151
contig referenceGVal [V]3151
62814186789 rs1164893306 N.D. missenseCAla [A]2151
contig referenceTVal [V]2151
62814189786 rs746954913 0.000 missenseAAsp [D]2150
contig referenceGGly [G]2150
62814193782 rs997880732 N.D. missenseGVal [V]1149
contig referenceCLeu [L]1149
62814194781 rs1411187953 N.D. synonymousTPro [P]3148
contig referenceCPro [P]3148
62814195780 rs768683610 0.000 missenseAHis [H]2148
contig referenceCPro [P]2148
62814196779 rs147604283 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTSer [S]1148
contig referenceCPro [P]1148
62814208767 rs748000931 0.000 synonymousTLeu [L]1144
contig referenceCLeu [L]1144
62814209766 rs889580406 N.D. synonymousGPro [P]3143
contig referenceAPro [P]3143
62814210765 rs1327438695 N.D. missenseTLeu [L]2143
contig referenceCPro [P]2143
62814211764 rs1227111134 N.D. missenseAThr [T]1143
contig referenceCPro [P]1143
62814212763 rs769421014 0.000 synonymousTAsn [N]3142
contig referenceCAsn [N]3142
62814213762 rs552315452 0.000byFreqWith1000GenomeData0.0002 missenseGSer [S]2142
missenseTIle [I]2142
contig referenceAAsn [N]2142
62814215760 rs1182147533 N.D. synonymousTPro [P]3141
contig referenceCPro [P]3141
62814217758 rs1220664398 N.D. missenseTSer [S]1141
contig referenceCPro [P]1141
62814218757 rs770378560 0.000byFreq synonymousASer [S]3140
contig referenceCSer [S]3140
62814219756 rs774872844 0.000 missenseTPhe [F]2140
contig referenceCSer [S]2140
62814222753 rs759939640 0.000 missenseTVal [V]2139
contig referenceCAla [A]2139
62814228747 rs1017236982 N.D. missenseAAsn [N]2137
contig referenceCThr [T]2137
62814233742 rs768180179 0.000byFreq synonymousTSer [S]3135
contig referenceCSer [S]3135
62814235740 rs753108446 0.000 missenseCArg [R]1135
contig referenceASer [S]1135
62814238737 rs1190735629 N.D. missenseCPro [P]1134
contig referenceTSer [S]1134
62814240735 rs761182423 0.000 missenseTLeu [L]2133
contig referenceCSer [S]2133
62814242733 rs764356542 0.000byFreq synonymousGAla [A]3132
contig referenceCAla [A]3132
62814251719 rs780288079 0.000 -1128
62814252722 rs961388691 N.D. frame shift-Asn [N]1129
contig referenceTCSer [S]1129
62814254721 rs994194161 N.D. synonymousGAla [A]3128
contig referenceTAla [A]3128
62814256719 rs199906676 0.000byClusterWith1000GenomeData0.0002 missenseAThr [T]1128
contig referenceGAla [A]1128
62814258717 rs932803146 N.D. missenseTLeu [L]2127
contig referenceCPro [P]2127
62814260715 rs1329654680 N.D. synonymousTSer [S]3126
contig referenceCSer [S]3126
62814268707 rs757323624 0.000 missenseAIle [I]1124
contig referenceGVal [V]1124
62814269706 rs1458338517 N.D. synonymousAGly [G]3123
contig referenceGGly [G]3123
62814270705 rs778832811 0.000 missenseCAla [A]2123
contig referenceGGly [G]2123
62814278697 rs1406117779 N.D. synonymousAIle [I]3120
synonymousTIle [I]3120
contig referenceCIle [I]3120
62814279696 rs1407866114 N.D. missenseCThr [T]2120
contig referenceTIle [I]2120
62814282693 rs184558884 0.000byClusterWith1000GenomeData0.0002 missenseAAsp [D]2119
contig referenceGGly [G]2119
62814288687 rs1383787789 N.D. missenseTIle [I]2117
contig referenceGSer [S]2117
62814304671 rs750552347 0.000 missenseGVal [V]1112
contig referenceAIle [I]1112
62814306669 rs1369658027 N.D. missenseAAsp [D]2111
contig referenceGGly [G]2111
62814307668 rs546268868 0.000With1000GenomeData0.0002 missenseASer [S]1111
contig referenceGGly [G]1111
62814325650 rs1296065413 N.D. missenseAThr [T]1105
contig referenceGAla [A]1105
62814326649 rs1333339143 N.D. synonymousGGly [G]3104
contig referenceTGly [G]3104
62814327648 rs1224622863 N.D. missenseAAsp [D]2104
contig referenceGGly [G]2104
62814328647 rs1282757083 N.D. missenseASer [S]1104
contig referenceGGly [G]1104
62814338637 rs1062545 N.D. synonymousAPro [P]3100
contig referenceTPro [P]3100
62814347628 rs781162110 0.000 synonymousTSer [S]397
contig referenceCSer [S]397
62814353622 rs1050343149 N.D. synonymousALys [K]395
contig referenceGLys [K]395
62814360615 rs200488421 0.002 missenseCThr [T]293
contig referenceTMet [M]293
62814371604 rs747877927 0.000byFreq synonymousTThr [T]389
contig referenceCThr [T]389
62814372603 rs1435215889 N.D. missenseAAsn [N]289
contig referenceCThr [T]289
62814376599 rs769581130 0.000 missenseALys [K]188
contig referenceCGln [Q]188
62814377598 rs566397981 0.000With1000GenomeData0.0002 missenseALys [K]387
contig referenceCAsn [N]387
62814384591 rs1160993324 N.D. missenseTLeu [L]285
contig referenceCPro [P]285
62814386589 rs1459131377 N.D. synonymousTAla [A]384
contig referenceAAla [A]384
62814392583 rs144217451 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousGVal [V]382
synonymousTVal [V]382
contig referenceCVal [V]382
62814394581 rs1289309203 N.D. missenseAIle [I]182
contig referenceGVal [V]182
62814397578 rs1480734667 N.D. missenseTSer [S]181
contig referenceCPro [P]181
62814400575 rs1158907439 N.D. missenseCPro [P]180
contig referenceGAla [A]180
62814409566 rs554815622 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGGly [G]177
contig referenceASer [S]177
62814413562 rs773704923 0.000 nonsenseA375
contig referenceTTyr [Y]375
62814415560 rs745451966 0.000 missenseAAsn [N]175
missenseCHis [H]175
contig referenceTTyr [Y]175
62814416559 rs201068734 0.000byClusterbyFreq synonymousGPro [P]374
contig referenceAPro [P]374
62814424551 rs1362876954 N.D. missenseAAsn [N]172
contig referenceGAsp [D]172
62814427546 rs749799463 0.000 -270
62814428547 rs776156156 0.000byFreq synonymousASer [S]370
synonymousCSer [S]370
contig referenceGSer [S]370
62814430545 rs1287519775 N.D. missenseCPro [P]170
contig referenceTSer [S]170
62814431544 rs764587581 0.000 synonymousAArg [R]369
contig referenceGArg [R]369
62814432543 rs776869045 0.000byCluster missenseALys [K]269
contig referenceGArg [R]269
62814432542 rs1245170375 N.D. AGALys [K]168
62814433542 rs761905737 0.000 missenseGGly [G]169
contig referenceAArg [R]169
62814436539 rs1042629449 N.D. missenseCGln [Q]168
contig referenceALys [K]168
62814440535 rs201770282 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCGly [G]366
synonymousGGly [G]366
contig referenceAGly [G]366
62814446529 rs146631014 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]364
missenseCIle [I]364
contig referenceGMet [M]364
62814448527 rs1035411608 N.D. missenseGVal [V]164
contig referenceAMet [M]164
62814454521 rs140201739 0.000byCluster missenseGVal [V]162
missenseTPhe [F]162
contig referenceAIle [I]162
62814456519 rs1218110800 N.D. missenseGSer [S]261
contig referenceAAsn [N]261
62814459516 rs1364933353 N.D. missenseCThr [T]260
contig referenceTIle [I]260
62814460515 rs1237089661 N.D. missenseTPhe [F]160
contig referenceAIle [I]160
62814464511 rs143793213 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]358
contig referenceCGly [G]358
62814466509 rs1490463620 N.D. missenseASer [S]158
contig referenceGGly [G]158
62815863504 rs1183395861 N.D. missenseAGlu [E]256
contig referenceGGly [G]256
62815864503 rs377204675 0.000byCluster missenseAArg [R]156
contig referenceGGly [G]156
62815865502 rs151290032 0.000byCluster synonymousGAla [A]355
contig referenceCAla [A]355
62815866501 rs745312824 N.D. missenseAAsp [D]255
contig referenceCAla [A]255
62815867500 rs1411975971 N.D. missenseTSer [S]155
contig referenceGAla [A]155
62815870497 rs1171778673 N.D. missenseAMet [M]154
contig referenceGVal [V]154
62815875492 rs757078088 0.000 missenseGSer [S]252
contig referenceAAsn [N]252
62815878489 rs1236681093 N.D. missenseCThr [T]251
contig referenceTMet [M]251
62815881486 rs1460581029 N.D. missenseGArg [R]250
contig referenceAGln [Q]250
62815891476 rs778369129 0.000byFreq missenseGAla [A]147
missenseTSer [S]147
contig referenceCPro [P]147
62815892475 rs896562564 N.D. synonymousTGly [G]346
contig referenceCGly [G]346
62815893474 rs115534601 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTVal [V]246
contig referenceGGly [G]246
62815898469 rs1452141516 N.D. synonymousALeu [L]344
contig referenceGLeu [L]344
62815901466 rs1023788893 N.D. synonymousGGlu [E]343
contig referenceAGlu [E]343
62815905462 rs969576126 N.D. missenseAAsp [D]242
contig referenceCAla [A]242
62815908459 rs570980722 0.000With1000GenomeData0.0002 missenseGSer [S]241
contig referenceAAsn [N]241
62815909458 rs1214911816 N.D. missenseTTyr [Y]141
contig referenceAAsn [N]141
62815910456 rs1272291948 N.D. frame shiftTTTCCPhe [F]241
contig reference-Asn [N]241
62815912455 rs1345217636 N.D. missenseTSer [S]140
contig referenceCPro [P]140
62815915452 rs369477396 0.000byCluster missenseCLeu [L]139
contig referenceTPhe [F]139
62815922445 rs746579337 0.000 synonymousAVal [V]336
contig referenceGVal [V]336
62815932435 rs1263170644 N.D. missenseTVal [V]233
contig referenceCAla [A]233
62815934433 rs769285458 0.000 synonymousTAla [A]332
contig referenceCAla [A]332
62815935432 rs781725959 0.000byFreq missenseGGly [G]232
contig referenceCAla [A]232
62815939428 rs535186925 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]131
missenseTPhe [F]131
contig referenceCLeu [L]131
62815942425 rs371222708 0.000byClusterbyFreq missenseAAsn [N]130
contig referenceGAsp [D]130
62815947420 rs1187456683 N.D. missenseCAla [A]228
contig referenceTVal [V]228
62815951416 rs1191305771 N.D. missenseTSer [S]127
contig referenceCPro [P]127
62815954413 rs1419440640 N.D. missenseCHis [H]126
contig referenceTTyr [Y]126
62815956411 rs763131472 0.000byFreq missenseAAsn [N]225
contig referenceTIle [I]225
62815957410 rs1178718119 N.D. missenseGVal [V]125
contig referenceAIle [I]125
62815959408 rs985016283 N.D. missenseGSer [S]224
contig referenceAAsn [N]224
62815969398 rs771191619 0.000 synonymousTLeu [L]121
contig referenceCLeu [L]121
62815983384 rs1335021548 N.D. missenseAAsp [D]216
contig referenceGGly [G]216
62815987380 rs1347180662 N.D. missenseTCys [C]115
contig referenceASer [S]115
62815989378 rs774400610 0.000 missenseGArg [R]214
contig referenceTLeu [L]214
62815996371 rs759678571 0.000 missenseCLeu [L]112
contig referenceGVal [V]112
62816004363 rs763870213 0.000 missenseGArg [R]29
contig referenceALys [K]29
62816005362 rs1016526119 N.D. missenseCGln [Q]19
contig referenceALys [K]19
62816011356 rs771781462 N.D. missenseAIle [I]17
contig referenceGVal [V]17
62816012355 rs1225211720 N.D. synonymousTAla [A]36
contig referenceCAla [A]36
62816020347 rs1283821248 N.D. missenseTSer [S]14
contig referenceGAla [A]14
62816025342 rs1322264185 N.D. missenseCThr [T]22
contig referenceTMet [M]22
62816027340 rs962336810 N.D. missenseCIle [I]31
contig referenceGMet [M]31