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SNP linked to Gene (geneID:1487) 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): 13
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017007767.1minus strandXP_016863256.1reverseNT_006051.19GRCh38.p7<- currently shown
XM_017007766.1minus strandXP_016863255.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_017007765.1minus strandXP_016863254.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_017007764.1minus strandXP_016863253.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_017007763.1minus strandXP_016863252.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_017007762.1minus strandXP_016863251.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_011513397.2minus strandXP_011511699.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_011513396.2minus strandXP_011511698.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_011513395.2minus strandXP_011511697.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_005272263.4minus strandXP_005272320.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
XM_005272261.3minus strandXP_005272318.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
NM_001328.2minus strandNP_001319.1reverseNT_006051.19GRCh38.p7View snp on GeneModel
NM_001012614.1minus strandNP_001012632.1reverseNT_006051.19GRCh38.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_006051.19XM_017007767.1XP_016863256.1reverseminus strand400, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
12122451483 rs760712247 0.000 synonymousCLeu [L]1440
contig referenceTLeu [L]1440
12122461482 rs978852365 N.D. missenseCHis [H]3439
contig referenceGGln [Q]3439
12122531475 rs763759376 0.000byFreq missenseAAsn [N]2437
contig referenceGSer [S]2437
12122571471 rs145193058 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]1436
contig referenceGAla [A]1436
12122581470 rs757056389 0.000 synonymousTHis [H]3435
contig referenceCHis [H]3435
12122611467 rs926950501 N.D. synonymousTAsp [D]3434
contig referenceCAsp [D]3434
12122701458 rs532821312 0.005byFreqWith1000GenomeData0.0018 synonymousAAla [A]3431
synonymousCAla [A]3431
contig referenceGAla [A]3431
12122711457 rs200540863 0.001byClusterbyFreqWith1000GenomeData missenseTVal [V]2431
contig referenceCAla [A]2431
12122731455 rs1271593874 N.D. synonymousAGlu [E]3430
contig referenceGGlu [E]3430
12122751453 rs868723811 N.D.byCluster nonsenseT1430
contig referenceGGlu [E]1430
12122761452 rs369378786 0.000byClusterbyFreq synonymousGPro [P]3429
synonymousTPro [P]3429
contig referenceCPro [P]3429
12122841444 rs748609943 0.000byCluster missenseAIle [I]1427
contig referenceGVal [V]1427
12122851443 rs770287962 0.000byFreq synonymousGThr [T]3426
synonymousTThr [T]3426
contig referenceCThr [T]3426
12122861442 rs1187380116 N.D. missenseTIle [I]2426
contig referenceCThr [T]2426
12122871441 rs1332906108 N.D. missenseGAla [A]1426
contig referenceAThr [T]1426
12122881440 rs749654333 0.000 synonymousGGln [Q]3425
contig referenceAGln [Q]3425
12122911437 rs1452768835 N.D. synonymousAGly [G]3424
contig referenceCGly [G]3424
12122941432 rs1172791142 N.D. -1423
12122951433 rs771269618 0.000 missenseTLeu [L]2423
contig referenceCPro [P]2423
12123001428 rs1416156999 N.D. synonymousCPro [P]3421
contig referenceTPro [P]3421
12123011427 rs199614101 0.002byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2421
contig referenceCPro [P]2421
12123051423 rs1344128525 N.D. missenseAThr [T]1420
missenseCPro [P]1420
contig referenceGAla [A]1420
12123061422 rs1453823824 N.D. synonymousTHis [H]3419
contig referenceCHis [H]3419
12123071421 rs1321911437 N.D. missenseCPro [P]2419
contig referenceAHis [H]2419
12123091419 rs1333074414 N.D. synonymousGPro [P]3418
contig referenceCPro [P]3418
12123121416 rs369644553 0.000byCluster synonymousAPro [P]3417
synonymousCPro [P]3417
contig referenceGPro [P]3417
12123131415 rs868716600 N.D.byCluster missenseAGln [Q]2417
missenseTLeu [L]2417
contig referenceCPro [P]2417
12123151413 rs1465919343 N.D. synonymousTHis [H]3416
contig referenceCHis [H]3416
12123161412 rs377619487 0.001byClusterbyFreq missenseCPro [P]2416
missenseTLeu [L]2416
contig referenceAHis [H]2416
12123191409 rs1372176539 N.D. missenseGGly [G]2415
contig referenceCAla [A]2415
12123201408 rs1221473441 N.D. missenseAThr [T]1415
contig referenceGAla [A]1415
12123211407 rs775743153 0.000byFreq synonymousTVal [V]3414
contig referenceGVal [V]3414
12123231405 rs201436512 0.000byClusterWith1000GenomeData0.0002 missenseAMet [M]1414
contig referenceGVal [V]1414
12123241404 rs369652853 0.002byClusterbyFreq synonymousAPro [P]3413
synonymousCPro [P]3413
contig referenceTPro [P]3413
12123261402 rs1270025509 N.D. missenseAThr [T]1413
missenseGAla [A]1413
contig referenceCPro [P]1413
12123271401 rs764108337 0.000byFreq synonymousGPro [P]3412
contig referenceCPro [P]3412
12123281400 rs536898821 0.000With1000GenomeData0.0002 missenseTLeu [L]2412
contig referenceCPro [P]2412
12123291399 rs1251553462 N.D. missenseGAla [A]1412
contig referenceCPro [P]1412
12123351393 rs1253462797 N.D. missenseASer [S]1410
contig referenceGGly [G]1410
12123361392 rs758690207 0.000byCluster synonymousTHis [H]3409
contig referenceCHis [H]3409
12123391389 rs137891531 0.002byClusterbyFreqWith1000GenomeData0.0008 synonymousASer [S]3408
contig referenceCSer [S]3408
12123421386 rs750024621 0.000byFreq synonymousALeu [L]3407
contig referenceGLeu [L]3407
12123521375 rs777637511 0.000 (9bp) [VPS]1403
12123531375 rs758074443 0.000byCluster missenseAThr [T]1404
contig referenceGAla [A]1404
12123541374 rs757167464 0.000byFreq synonymousTSer [S]3403
contig referenceCSer [S]3403
12123601368 rs1233883898 N.D. synonymousTVal [V]3401
contig referenceCVal [V]3401
12123621366 rs899857673 N.D. missenseAIle [I]1401
contig referenceGVal [V]1401
12123631365 rs751079248 0.000byFreq synonymousTIle [I]3400
contig referenceCIle [I]3400
12123681360 rs1311710951 N.D. missenseASer [S]1399
contig referenceGGly [G]1399
12123721356 rs1350882827 N.D. synonymousAVal [V]3397
contig referenceGVal [V]3397
12123731355 rs1397358082 N.D. missenseAGlu [E]2397
contig referenceTVal [V]2397
12123771351 rs566988702 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTSer [S]1396
contig referenceGAla [A]1396
12123791349 rs778341068 0.000 missenseTVal [V]2395
contig referenceCAla [A]2395
12123831345 rs1334943941 N.D. missenseGAla [A]1394
contig referenceCPro [P]1394
12123891339 rs1373257428 N.D. missenseTCys [C]1392
contig referenceGGly [G]1392
12123911337 rs1326775233 N.D. missenseGSer [S]2391
contig referenceCThr [T]2391
12123961332 rs907249084 N.D. synonymousGAla [A]3389
synonymousTAla [A]3389
contig referenceCAla [A]3389
12123981330 rs370229464 0.000byClusterbyFreq missenseAThr [T]1389
contig referenceGAla [A]1389
12123991329 rs1051319881 N.D. synonymousAVal [V]3388
contig referenceGVal [V]3388
12124011327 rs374289560 0.000byClusterbyFreq missenseAMet [M]1388
missenseTLeu [L]1388
contig referenceGVal [V]1388
12124021326 rs1213343267 N.D. synonymousTGly [G]3387
contig referenceCGly [G]3387
12124031325 rs1381847644 N.D. missenseAAsp [D]2387
contig referenceGGly [G]2387
12124061322 rs1158873491 N.D. missenseCAla [A]2386
contig referenceTVal [V]2386
12124081320 rs1274014857 N.D. synonymousTVal [V]3385
contig referenceGVal [V]3385
12124111317 rs140595665 0.001byClusterbyFreq synonymousAGly [G]3384
synonymousTGly [G]3384
contig referenceCGly [G]3384
12124141314 rs1232025451 N.D. synonymousAPro [P]3383
contig referenceGPro [P]3383
12124151313 rs1470479000 N.D. missenseTLeu [L]2383
contig referenceCPro [P]2383
12124161312 rs1184239068 N.D. missenseGAla [A]1383
contig referenceCPro [P]1383
12124171311 rs1415075714 N.D. synonymousCPro [P]3382
contig referenceTPro [P]3382
12124191309 rs968885033 N.D. missenseTSer [S]1382
contig referenceCPro [P]1382
12129201297 rs758892680 0.000 missenseAThr [T]1378
contig referenceGAla [A]1378
12129231294 rs780391436 0.000byFreq missenseCPro [P]1377
contig referenceGAla [A]1377
12129271290 rs747243220 0.000byFreq missenseGLys [K]3375
synonymousCAsn [N]3375
contig referenceTAsn [N]3375
12129301287 rs374463830 0.000byCluster synonymousTLeu [L]3374
contig referenceCLeu [L]3374
12129371280 rs776601859 0.000 missenseTLeu [L]2372
contig referenceCPro [P]2372
12129441273 rs7687296 0.000byClusterbyFreq missenseAMet [M]1370
missenseTLeu [L]1370
contig referenceGVal [V]1370
12129471270 rs138269585 0.000byClusterbyFreq missenseAIle [I]1369
contig referenceGVal [V]1369
12129481269 rs367988327 0.000byClusterbyFreq synonymousTAla [A]3368
contig referenceCAla [A]3368
12129501267 rs762735833 0.000byFreq missenseAThr [T]1368
contig referenceGAla [A]1368
12129511266 rs112982065 0.000byClusterbyFreq synonymousTPro [P]3367
contig referenceCPro [P]3367
12129531264 rs773974167 0.000 missenseTSer [S]1367
contig referenceCPro [P]1367
12129581259 rs1191116395 N.D. missenseCThr [T]2365
contig referenceTMet [M]2365
12129641253 rs1257745618 N.D. missenseTVal [V]2363
contig referenceCAla [A]2363
12129651252 rs1423221448 N.D. missenseAThr [T]1363
contig referenceGAla [A]1363
12129691248 rs759136268 0.000 missenseGGln [Q]3361
synonymousTHis [H]3361
contig referenceCHis [H]3361
12129731244 rs767014913 0.000 missenseAAsn [N]2360
contig referenceCThr [T]2360
12129741243 rs1242357133 N.D. missenseGAla [A]1360
contig referenceAThr [T]1360
12129751242 rs528659787 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTAla [A]3359
contig referenceCAla [A]3359
12129771240 rs757726580 0.000 missenseAThr [T]1359
contig referenceGAla [A]1359
12129781239 rs374246733 0.000byClusterbyFreq YessynonymousTAla [A]3358
contig referenceCAla [A]3358
12129881229 rs751005502 0.000 missenseGArg [R]2355
contig referenceAHis [H]2355
12129891228 rs758812496 0.000byFreq missenseTTyr [Y]1355
contig referenceCHis [H]1355
12129991218 rs1028546796 N.D. synonymousAVal [V]3351
synonymousGVal [V]3351
contig referenceCVal [V]3351
12130011216 rs1399051711 N.D. missenseAIle [I]1351
contig referenceGVal [V]1351
12130021215 rs780587679 0.000 missenseGTrp [W]3350
synonymousCCys [C]3350
contig referenceTCys [C]3350
12130071210 rs747214007 0.000 missenseTTyr [Y]1349
contig referenceAAsn [N]1349
12130131204 rs1437477957 N.D. missenseGVal [V]1347
contig referenceCLeu [L]1347
12130151199 rs746225680 0.000 frame shift-Ala [A]2345
contig referenceACAGAsp [D]2345
12130171200 rs1369976635 N.D. synonymousTAsp [D]3345
contig referenceCAsp [D]3345
12130261191 rs375881744 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousCArg [R]3342
contig referenceGArg [R]3342
12130271190 rs1388127720 N.D. missenseAGln [Q]2342
contig referenceGArg [R]2342
12130291188 rs781271935 0.000 synonymousGGly [G]3341
contig referenceCGly [G]3341
12130301187 rs748160686 0.000 missenseAAsp [D]2341
missenseCAla [A]2341
contig referenceGGly [G]2341
12134821182 rs749187606 0.000byFreq synonymousTIle [I]3339
contig referenceCIle [I]3339
12134941170 rs1417456748 N.D. synonymousTIle [I]3335
contig referenceCIle [I]3335
12134971167 rs1434878712 N.D. synonymousAGlu [E]3334
contig referenceGGlu [E]3334
12135011163 rs1356384820 N.D. missenseAGln [Q]2333
contig referenceGArg [R]2333
12135021162 rs1329666542 N.D. missenseTTrp [W]1333
contig referenceCArg [R]1333
12135061158 rs758441543 N.D. synonymousAAla [A]3331
synonymousCAla [A]3331
contig referenceGAla [A]3331
12135091155 rs1245417280 N.D. synonymousAGlu [E]3330
contig referenceGGlu [E]3330
12135161148 rs779383427 0.000 missenseAGln [Q]2328
contig referenceGArg [R]2328
12135171147 rs1394054108 N.D. nonsenseT1328
contig referenceCArg [R]1328
12135231141 rs1390818109 N.D. missenseALys [K]1326
contig referenceGGlu [E]1326
12135241140 rs778712973 0.000byFreq missenseGMet [M]3325
synonymousTIle [I]3325
contig referenceCIle [I]3325
12135261138 rs1394202072 N.D. missenseCLeu [L]1325
contig referenceAIle [I]1325
12135281136 rs1189438054 N.D. missenseGCys [C]2324
contig referenceCSer [S]2324
12135291135 rs1481600940 N.D. missenseGAla [A]1324
contig referenceTSer [S]1324
12135301134 rs1351852815 N.D. synonymousGAla [A]3323
contig referenceAAla [A]3323
12135311133 rs1230957261 N.D. missenseAGlu [E]2323
contig referenceCAla [A]2323
12135341130 rs1233366932 N.D. missenseTLeu [L]2322
contig referenceAGln [Q]2322
12135391125 rs201553288 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTSer [S]3320
contig referenceCSer [S]3320
12135421122 rs1321961139 N.D. synonymousTTyr [Y]3319
contig referenceCTyr [Y]3319
12135541110 rs1267672718 N.D. synonymousCHis [H]3315
contig referenceTHis [H]3315
12135571107 rs374458193 0.000byCluster YessynonymousGPro [P]3314
contig referenceCPro [P]3314
12135601104 rs760425578 0.000byFreq synonymousTThr [T]3313
contig referenceCThr [T]3313
12135611103 rs1253190983 N.D. missenseAAsn [N]2313
contig referenceCThr [T]2313
12135621102 rs1484301914 N.D. missenseTSer [S]1313
contig referenceAThr [T]1313
12135661098 rs1185907715 N.D. synonymousTIle [I]3311
contig referenceCIle [I]3311
12135691095 rs200948761 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTLeu [L]3310
contig referenceCLeu [L]3310
12135771087 rs776285157 0.000 missenseTSer [S]1308
contig referenceCPro [P]1308
12135781086 rs763491837 0.000 synonymousCAla [A]3307
contig referenceAAla [A]3307
12135791085 rs766975797 0.000byFreq missenseTVal [V]2307
contig referenceCAla [A]2307
12135911073 rs11540634 N.D. YesmissenseAHis [H]2303
contig referenceCPro [P]2303
12135921072 rs369272423 0.000byClusterbyFreq YesmissenseTSer [S]1303
contig referenceCPro [P]1303
12135951069 rs1168946606 N.D. missenseASer [S]1302
contig referenceGGly [G]1302
12143541047 rs764484563 0.000byFreq synonymousASer [S]3294
contig referenceGSer [S]3294
12143561045 rs1328536846 N.D. missenseAThr [T]1294
contig referenceTSer [S]1294
12143591042 rs776814021 0.000byFreq missenseALys [K]1293
missenseCGln [Q]1293
contig referenceGGlu [E]1293
12143601041 rs746419297 0.000byFreq missenseAGln [Q]3292
synonymousTHis [H]3292
contig referenceCHis [H]3292
12143711030 rs758464795 0.000byFreq synonymousTLeu [L]1289
contig referenceCLeu [L]1289
12143751026 rs766411525 0.000byFreq synonymousAAla [A]3287
synonymousCAla [A]3287
contig referenceGAla [A]3287
12143771024 rs1031166870 N.D. missenseAThr [T]1287
contig referenceGAla [A]1287
12143781023 rs557237647 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]3286
contig referenceCGly [G]3286
12143801021 rs867020495 N.D.byCluster missenseASer [S]1286
missenseTCys [C]1286
contig referenceGGly [G]1286
12143811020 rs149624625 0.005byClusterbyFreqWith1000GenomeData0.0006 YessynonymousAArg [R]3285
synonymousTArg [R]3285
contig referenceCArg [R]3285
12143881013 rs781159425 0.000 missenseAGln [Q]2283
contig referenceGArg [R]2283
12143931008 rs191636284 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGlu [E]3281
contig referenceGGlu [E]3281
12144011000 rs1208420805 N.D. missenseAMet [M]1279
contig referenceCLeu [L]1279
1214408993 rs374119015 0.000byCluster YessynonymousTAla [A]3276
contig referenceCAla [A]3276
1214414987 rs147301141 0.000byClusterbyFreq YessynonymousAAla [A]3274
contig referenceGAla [A]3274
1214415986 rs777093230 0.000 missenseTVal [V]2274
contig referenceCAla [A]2274
1214420981 rs1350826314 N.D. missenseCAsp [D]3272
contig referenceGGlu [E]3272
1214421980 rs748822104 0.000 missenseGGly [G]2272
contig referenceAGlu [E]2272
1214426975 rs770417600 0.000 synonymousAVal [V]3270
contig referenceGVal [V]3270
1214429972 rs780511452 0.000 synonymousALeu [L]3269
contig referenceGLeu [L]3269
1214431970 rs1327095637 N.D. synonymousTLeu [L]1269
contig referenceCLeu [L]1269
1214438963 rs545785739 N.D.byCluster synonymousTArg [R]3266
contig referenceGArg [R]3266
1214439962 rs1315137495 N.D. missenseAGln [Q]2266
contig referenceGArg [R]2266
1214440961 rs1290217261 N.D. missenseTTrp [W]1266
contig referenceCArg [R]1266
1214444957 rs747567252 0.000 synonymousGThr [T]3264
contig referenceAThr [T]3264
1214445956 rs768967000 0.000 missenseTIle [I]2264
contig referenceCThr [T]2264
1214450951 rs1290417654 N.D. synonymousAVal [V]3262
contig referenceGVal [V]3262
1214459942 rs1323257573 N.D. synonymousAAla [A]3259
contig referenceCAla [A]3259
1214460941 rs776982007 0.000byFreq missenseTVal [V]2259
contig referenceCAla [A]2259
1214462939 rs761879195 0.000byFreq synonymousAGly [G]3258
synonymousTGly [G]3258
contig referenceGGly [G]3258
1214473928 rs773373860 0.000 missenseTLeu [L]1255
contig referenceAMet [M]1255
1215998920 rs1280050791 N.D. missenseCAla [A]2252
contig referenceTVal [V]2252
1215999919 rs767549924 0.000byFreq missenseAIle [I]1252
contig referenceGVal [V]1252
1216000918 rs143129857 0.000byClusterbyFreq YessynonymousTThr [T]3251
contig referenceCThr [T]3251
1216009909 rs147464431 0.001byClusterbyFreqWith1000GenomeData0.0014 YessynonymousTAsn [N]3248
contig referenceCAsn [N]3248
1216011907 rs763847829 0.000 missenseGAsp [D]1248
contig referenceAAsn [N]1248
1216015903 rs1190858970 N.D. synonymousGLeu [L]3246
contig referenceCLeu [L]3246
1216017901 rs1376466934 N.D. missenseTPhe [F]1246
contig referenceCLeu [L]1246
1216030888 rs1477950166 N.D. synonymousAGlu [E]3241
contig referenceGGlu [E]3241
1216032886 rs1173249189 N.D. missenseALys [K]1241
contig referenceGGlu [E]1241
1216033885 rs369657048 0.000byClusterbyFreq YessynonymousTAsn [N]3240
contig referenceCAsn [N]3240
1216036882 rs1455880674 N.D. synonymousALeu [L]3239
contig referenceCLeu [L]3239
1216039879 rs139911392 0.001byClusterbyFreqWith1000GenomeData0.0010 YessynonymousTGly [G]3238
contig referenceCGly [G]3238
1216041877 rs750734000 0.000byFreq missenseASer [S]1238
contig referenceGGly [G]1238
1216042876 rs374344295 0.000byClusterbyFreq YessynonymousTCys [C]3237
contig referenceCCys [C]3237
1216046872 rs1213063374 N.D. missenseGArg [R]2236
contig referenceAHis [H]2236
1216052866 rs1321257904 N.D. missenseGSer [S]2234
contig referenceCThr [T]2234
1216056862 rs952944457 N.D. missenseAMet [M]1233
contig referenceGVal [V]1233
1216057861 rs1233860554 N.D. synonymousTCys [C]3232
contig referenceCCys [C]3232
1216060858 rs757966374 0.000byFreq synonymousTAsp [D]3231
contig referenceCAsp [D]3231
1216062856 rs1006094126 N.D. missenseAAsn [N]1231
contig referenceGAsp [D]1231
1216063855 rs781701519 0.000byFreq synonymousTSer [S]3230
contig referenceCSer [S]3230
1216065853 rs1227458533 N.D. missenseGGly [G]1230
contig referenceASer [S]1230
1216066852 rs748651372 0.000 synonymousTHis [H]3229
contig referenceCHis [H]3229
1216067851 rs756451089 0.000 missenseGArg [R]2229
contig referenceAHis [H]2229
1216072846 rs1279630195 N.D. synonymousTLeu [L]3227
contig referenceCLeu [L]3227
1216077841 rs778027768 0.000 missenseGVal [V]1226
contig referenceCLeu [L]1226
1216078840 rs1265639501 N.D. synonymousTAsp [D]3225
contig referenceCAsp [D]3225
1216083835 rs749461434 0.000 missenseGGlu [E]1224
contig referenceCGln [Q]1224
1216084834 rs780706169 0.000byFreq synonymousCLeu [L]3223
contig referenceGLeu [L]3223
1216087831 rs1289547509 N.D. synonymousTThr [T]3222
contig referenceCThr [T]3222
1216091827 rs774773418 0.000byFreq missenseAAsn [N]2221
contig referenceGSer [S]2221
1216093825 rs1471664206 N.D. synonymousAVal [V]3220
contig referenceCVal [V]3220
1216095823 rs529740572 0.000With1000GenomeData0.0002 missenseAIle [I]1220
contig referenceGVal [V]1220
1216097821 rs745938565 0.000 missenseAHis [H]2219
contig referenceGArg [R]2219
1216098820 rs772323252 0.000byFreq missenseTCys [C]1219
contig referenceCArg [R]1219
1216102816 rs1161301505 N.D. synonymousTLeu [L]3217
contig referenceGLeu [L]3217
1216104814 rs775480221 0.000 missenseGVal [V]1217
synonymousTLeu [L]1217
contig referenceCLeu [L]1217
1216105813 rs1387325346 N.D. synonymousAGly [G]3216
contig referenceGGly [G]3216
1216111807 rs377714722 0.000byClusterbyFreq YessynonymousAAla [A]3214
synonymousCAla [A]3214
contig referenceGAla [A]3214
1216112806 rs371355192 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTVal [V]2214
contig referenceCAla [A]2214
1216115803 rs761651219 0.000 missenseAGln [Q]2213
contig referenceGArg [R]2213
1216116802 rs764862588 0.000 missenseTTrp [W]1213
contig referenceCArg [R]1213
1216122796 rs750112627 0.000byFreq missenseAMet [M]1211
missenseTLeu [L]1211
contig referenceGVal [V]1211
1216123795 rs757882322 0.000 synonymousTGly [G]3210
contig referenceCGly [G]3210
1216130788 rs567980949 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGTrp [W]2208
missenseTLeu [L]2208
contig referenceCSer [S]2208
1216131787 rs753205546 0.000 missenseAThr [T]1208
contig referenceTSer [S]1208
1216138780 rs756584802 0.000 synonymousCPro [P]3205
contig referenceTPro [P]3205
1216144774 rs778142796 0.000byFreq synonymousTTyr [Y]3203
contig referenceCTyr [Y]3203
1216150768 rs372599555 0.000byCluster YessynonymousTLeu [L]3201
contig referenceCLeu [L]3201
1216155763 rs1181562737 N.D. missenseTLeu [L]1200
contig referenceGVal [V]1200
1216156762 rs747578892 0.000byFreq synonymousTAsn [N]3199
contig referenceCAsn [N]3199
1216157761 rs779250856 0.000 missenseGSer [S]2199
contig referenceAAsn [N]2199
1216162756 rs746145361 0.000byFreq synonymousGGly [G]3197
contig referenceCGly [G]3197
1216164754 rs142670248 0.000byClusterbyFreq YesmissenseASer [S]1197
contig referenceGGly [G]1197
1216165753 rs370377200 0.000byClusterbyFreq YessynonymousTPhe [F]3196
contig referenceCPhe [F]3196
1216169749 rs746904547 0.000 missenseGGly [G]2195
contig referenceCAla [A]2195
1216170748 rs370649780 N.D.byCluster YesmissenseAThr [T]1195
contig referenceGAla [A]1195
1216171747 rs768461350 0.000 missenseCAsn [N]3194
synonymousALys [K]3194
contig referenceGLys [K]3194
1216179739 rs776693173 0.000 missenseTTrp [W]1192
contig referenceCArg [R]1192
1216183735 rs186090455 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAAla [A]3190
contig referenceGAla [A]3190
1216184734 rs913105300 N.D. missenseTVal [V]2190
contig referenceCAla [A]2190
1216185733 rs765065949 0.000 missenseAThr [T]1190
contig referenceGAla [A]1190
1216189729 rs772801359 0.000 synonymousTAla [A]3188
contig referenceAAla [A]3188
1216201717 rs376681305 0.000byClusterbyFreq YessynonymousAArg [R]3184
synonymousGArg [R]3184
synonymousTArg [R]3184
contig referenceCArg [R]3184
1216202716 rs932604953 N.D. missenseAHis [H]2184
contig referenceGArg [R]2184
1216203715 rs765846448 0.000 missenseTCys [C]1184
contig referenceCArg [R]1184
1225367705 rs775147566 0.000 synonymousTIle [I]3180
contig referenceCIle [I]3180
1225369703 rs1166646205 N.D. missenseGVal [V]1180
contig referenceAIle [I]1180
1225375697 rs1431726893 N.D. missenseCArg [R]1178
contig referenceGGly [G]1178
1225376696 rs866608802 N.D.byCluster missenseTPhe [F]3177
contig referenceGLeu [L]3177
1225379693 rs988524723 N.D. synonymousGThr [T]3176
contig referenceCThr [T]3176
1225387685 rs556334680 0.000With1000GenomeData0.0002 missenseAArg [R]1174
contig referenceGGly [G]1174
1225388684 rs1045458 0.045byClusterbyFreqWith1000GenomeData0.0058 YessynonymousTArg [R]3173
contig referenceCArg [R]3173
1225389683 rs1385358459 N.D. missenseAHis [H]2173
contig referenceGArg [R]2173
1225390682 rs1383902748 N.D. missenseTCys [C]1173
contig referenceCArg [R]1173
1225391681 rs765831710 0.000 synonymousAIle [I]3172
synonymousTIle [I]3172
contig referenceCIle [I]3172
1225394678 rs1330407170 N.D. synonymousAArg [R]3171
contig referenceGArg [R]3171
1225399673 rs1405031971 N.D. missenseAThr [T]1170
contig referenceGAla [A]1170
1225400672 rs1284583114 N.D. synonymousCAla [A]3169
contig referenceTAla [A]3169
1225402670 rs1348305467 N.D. missenseAThr [T]1169
missenseTSer [S]1169
contig referenceGAla [A]1169
1225403669 rs773892800 0.000byFreq synonymousTGly [G]3168
contig referenceCGly [G]3168
1225405667 rs535413566 0.000With1000GenomeData0.0002 missenseASer [S]1168
contig referenceGGly [G]1168
1225406666 rs553745756 0.001byFreqWith1000GenomeData0.0008 synonymousTSer [S]3167
contig referenceCSer [S]3167
1225409663 rs372503163 0.000byCluster YessynonymousAAla [A]3166
synonymousTAla [A]3166
contig referenceGAla [A]3166
1225411661 rs1288389269 N.D. missenseAThr [T]1166
contig referenceGAla [A]1166
1225412660 rs1490311264 N.D. synonymousAVal [V]3165
contig referenceGVal [V]3165
1225417655 rs868779152 N.D.byCluster nonsenseT1164
missenseALys [K]1164
contig referenceGGlu [E]1164
1225418654 rs573418618 0.000With1000GenomeData0.0002 synonymousGArg [R]3163
synonymousTArg [R]3163
contig referenceCArg [R]3163
1225419653 rs1368222648 N.D. missenseAHis [H]2163
contig referenceGArg [R]2163
1225425647 rs375752732 0.000byCluster YesmissenseGArg [R]2161
contig referenceAGln [Q]2161
1225427645 rs866127430 N.D.byCluster missenseTAsp [D]3160
contig referenceGGlu [E]3160
1225429643 rs1181698563 N.D. missenseALys [K]1160
contig referenceGGlu [E]1160
1225430642 rs139564947 0.001byClusterbyFreqWith1000GenomeData0.0010 YessynonymousTVal [V]3159
contig referenceCVal [V]3159
1225432640 rs777656363 0.000 missenseAIle [I]1159
contig referenceGVal [V]1159
1225433639 rs1285692681 N.D. synonymousTSer [S]3158
contig referenceCSer [S]3158
1225434638 rs1161172088 N.D. missenseAAsn [N]2158
contig referenceGSer [S]2158
1225441631 rs1389938148 N.D. missenseAIle [I]1156
contig referenceGVal [V]1156
1225443629 rs1358451704 N.D. missenseAGln [Q]2155
contig referenceGArg [R]2155
1225444628 rs1425210992 N.D. nonsenseT1155
contig referenceCArg [R]1155
1225447625 rs749298564 0.000 missenseCPro [P]1154
contig referenceAThr [T]1154
1225448624 rs1368128013 N.D. synonymousTGly [G]3153
contig referenceCGly [G]3153
1225450622 rs1408893281 N.D. missenseASer [S]1153
contig referenceGGly [G]1153
1225452620 rs955465249 N.D. missenseGGly [G]2152
contig referenceAGlu [E]2152
1225454618 rs1307294495 N.D. synonymousAArg [R]3151
contig referenceGArg [R]3151
1225456616 rs1337124457 N.D. synonymousAArg [R]1151
contig referenceCArg [R]1151
1225460612 rs370399291 0.000byClusterbyFreq YessynonymousAAla [A]3149
contig referenceGAla [A]3149
1225461611 rs756957912 0.000 missenseTVal [V]2149
contig referenceCAla [A]2149
1225463609 rs1359438837 N.D. missenseCHis [H]3148
contig referenceGGln [Q]3148
1225466606 rs1223834362 N.D. synonymousTHis [H]3147
contig referenceCHis [H]3147
1225468604 rs1371264312 N.D. missenseTTyr [Y]1147
contig referenceCHis [H]1147
1225469603 rs1294100924 N.D. synonymousALeu [L]3146
contig referenceGLeu [L]3146
1225472600 rs1482127504 N.D. nonsenseA3145
contig referenceGTrp [W]3145
1225476596 rs1195263076 N.D. missenseAAsn [N]2144
missenseTIle [I]2144
contig referenceCThr [T]2144
1225478594 rs1251520996 N.D. synonymousTAla [A]3143
contig referenceCAla [A]3143
1225481591 rs1048261948 N.D. synonymousAArg [R]3142
contig referenceGArg [R]3142
1225485587 rs1185219686 N.D. missenseAGln [Q]2141
contig referenceGArg [R]2141
1225487585 rs1388969883 N.D. synonymousTTyr [Y]3140
contig referenceCTyr [Y]3140
1225490582 rs1039008281 N.D. synonymousALeu [L]3139
contig referenceGLeu [L]3139
1225492580 rs1384376049 N.D. synonymousTLeu [L]1139
contig referenceCLeu [L]1139
1225493579 rs889585115 N.D. synonymousTAsn [N]3138
contig referenceCAsn [N]3138
1225502570 rs1445209476 N.D. synonymousTHis [H]3135
contig referenceCHis [H]3135
1225511561 rs1165370688 N.D. synonymousAThr [T]3132
contig referenceGThr [T]3132
1225512560 rs1388198458 N.D. missenseTMet [M]2132
contig referenceCThr [T]2132
1225514558 rs778804693 0.000byFreq synonymousASer [S]3131
synonymousCSer [S]3131
contig referenceGSer [S]3131
1225515557 rs1298186921 N.D. missenseTLeu [L]2131
contig referenceCSer [S]2131
1225519553 rs745447562 0.000 missenseAAsn [N]1130
contig referenceGAsp [D]1130
1225520552 rs771867667 0.000 synonymousTAla [A]3129
contig referenceCAla [A]3129
1225523549 rs775346532 0.000 synonymousAThr [T]3128
synonymousTThr [T]3128
contig referenceGThr [T]3128
1225524548 rs1020093537 N.D. missenseTMet [M]2128
contig referenceCThr [T]2128
1225526546 rs1382466037 N.D. synonymousAGlu [E]3127
contig referenceGGlu [E]3127
1225528544 rs1247105966 N.D. missenseALys [K]1127
contig referenceGGlu [E]1127
1225538534 rs965475865 N.D. synonymousAAla [A]3123
synonymousTAla [A]3123
contig referenceGAla [A]3123
1225541531 rs1047769350 N.D. synonymousAAla [A]3122
contig referenceGAla [A]3122
1225542530 rs1226802355 N.D. missenseAGlu [E]2122
missenseTVal [V]2122
contig referenceCAla [A]2122
1225543529 rs746485008 0.000 missenseAThr [T]1122
contig referenceGAla [A]1122
1225544528 rs111349558 0.016byClusterbyFreqWith1000GenomeData0.0048 YessynonymousTPro [P]3121
contig referenceCPro [P]3121
1225549523 rs773539612 0.000 missenseAMet [M]1120
contig referenceGVal [V]1120
1225550522 rs756383970 0.001byFreq synonymousTAsn [N]3119
contig referenceCAsn [N]3119
1225551521 rs1378437656 N.D. missenseGSer [S]2119
contig referenceAAsn [N]2119
1225553519 rs1461623193 N.D. synonymousTCys [C]3118
contig referenceCCys [C]3118
1225558514 rs1185162847 N.D. missenseAIle [I]1117
missenseCLeu [L]1117
missenseTPhe [F]1117
contig referenceGVal [V]1117
1225559513 rs989650064 N.D. synonymousTAla [A]3116
contig referenceCAla [A]3116
1225560512 rs1427794202 N.D. missenseTVal [V]2116
contig referenceCAla [A]2116
1225564508 rs1365317056 N.D. missenseGVal [V]1115
contig referenceAIle [I]1115
1225566506 rs1170606984 N.D. missenseAAsp [D]2114
contig referenceGGly [G]2114
1228208496 rs753967411 0.000 missenseAArg [R]1111
contig referenceGGly [G]1111
1228209495 rs199545251 0.000byClusterWith1000GenomeData0.0002 YessynonymousTAla [A]3110
contig referenceCAla [A]3110
1228210494 rs1423280278 N.D. missenseGGly [G]2110
contig referenceCAla [A]2110
1228211493 rs765187635 0.000 missenseTSer [S]1110
contig referenceGAla [A]1110
1228212492 rs1365901476 N.D. synonymousASer [S]3109
contig referenceGSer [S]3109
1228213491 rs1366246481 N.D. missenseTLeu [L]2109
contig referenceCSer [S]2109
1228215489 rs1292813214 N.D. synonymousALys [K]3108
contig referenceGLys [K]3108
1228218486 rs1406792913 N.D. missenseGMet [M]3107
contig referenceCIle [I]3107
1228220484 rs1013197831 N.D. missenseGVal [V]1107
contig referenceAIle [I]1107
1228221483 rs1278030184 N.D. synonymousTAsp [D]3106
contig referenceCAsp [D]3106
1228223481 rs750373897 0.000byFreq missenseAAsn [N]1106
contig referenceGAsp [D]1106
1228224480 rs1388189912 N.D. synonymousTIle [I]3105
contig referenceCIle [I]3105
1228226478 rs758214276 0.000byFreq missenseGVal [V]1105
contig referenceAIle [I]1105
1228240464 rs1308863196 N.D. missenseAAsn [N]2100
contig referenceGSer [S]2100
1228249455 rs780023021 0.000 missenseAGln [Q]297
contig referenceGArg [R]297
1228253451 rs1221610147 N.D. missenseTPhe [F]196
contig referenceGVal [V]196
1228254450 rs149708872 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTIle [I]395
contig referenceCIle [I]395
1228257447 rs1292529646 N.D. synonymousTIle [I]394
contig referenceCIle [I]394
1228260444 rs1461276962 N.D. synonymousTArg [R]393
contig referenceCArg [R]393
1228261443 rs1490704176 N.D. missenseAHis [H]293
contig referenceGArg [R]293
1228262442 rs754690470 0.000 missenseTCys [C]193
contig referenceCArg [R]193
1228266438 rs780764032 0.000 synonymousTAla [A]391
contig referenceCAla [A]391
1228267437 rs1480723673 N.D. missenseTVal [V]291
contig referenceCAla [A]291
1228270434 rs747687307 0.000 missenseGArg [R]290
contig referenceALys [K]290
1228273431 rs769229609 0.000byFreq missenseGCys [C]289
contig referenceTPhe [F]289
1228276428 rs146726667 0.000 YesmissenseGArg [R]288
contig referenceALys [K]288
1228283421 rs1015618843 N.D. synonymousTLeu [L]186
contig referenceCLeu [L]186
1228285419 rs897625482 N.D. missenseGGly [G]285
contig referenceAAsp [D]285
1228293411 rs1478428347 N.D. synonymousTThr [T]382
contig referenceCThr [T]382
1228294410 rs140274040 0.000byClusterbyFreq YesmissenseTIle [I]282
contig referenceCThr [T]282
1228296408 rs144062192 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousGLeu [L]381
contig referenceCLeu [L]381
1228300404 rs1386358021 N.D. missenseTIle [I]280
contig referenceCThr [T]280
1228301403 rs1048984544 N.D. missenseGAla [A]180
contig referenceAThr [T]180
1228304400 rs1426626411 N.D. missenseGVal [V]179
contig referenceAIle [I]179
1228320384 rs887718667 N.D. synonymousGAla [A]373
synonymousTAla [A]373
contig referenceCAla [A]373
1228323381 rs772386825 0.000byFreq synonymousAGly [G]372
synonymousCGly [G]372
contig referenceGGly [G]372
1228327377 rs1354224282 N.D. missenseCAla [A]271
contig referenceTVal [V]271
1228335369 rs760833476 0.000byFreq synonymousTAsn [N]368
contig referenceCAsn [N]368
1238186357 rs374084054 0.000byCluster YessynonymousAGlu [E]364
contig referenceGGlu [E]364
1238201342 rs772691300 0.000byFreq synonymousAThr [T]359
contig referenceGThr [T]359
1238202341 rs1489250024 N.D. missenseTMet [M]259
contig referenceCThr [T]259
1238210333 rs146416017 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAAla [A]356
synonymousTAla [A]356
contig referenceGAla [A]356
1238212331 rs773926313 0.000 missenseAThr [T]156
missenseTSer [S]156
contig referenceGAla [A]156
1238213330 rs553993690 0.000byFreqWith1000GenomeData0.0002 synonymousTAsp [D]355
contig referenceCAsp [D]355
1238216327 rs764695644 0.000 synonymousTCys [C]354
contig referenceCCys [C]354
1238225318 rs1383261127 N.D. synonymousTVal [V]351
contig referenceGVal [V]351
1238240303 rs777320433 0.000byFreq synonymousALys [K]346
contig referenceGLys [K]346
1238245298 rs762249707 0.000 synonymousTLeu [L]145
contig referenceCLeu [L]145
1238246297 rs765660604 0.000 synonymousAIle [I]344
contig referenceCIle [I]344
1238261282 rs1350749454 N.D. synonymousGThr [T]339
contig referenceAThr [T]339
1238267276 rs750540871 0.000 synonymousTAsp [D]337
contig referenceCAsp [D]337
1238270273 rs754904369 0.000byCluster synonymousAArg [R]336
contig referenceGArg [R]336
1238276267 rs766565006 0.000byFreq missenseGGlu [E]334
contig referenceTAsp [D]334
1238285258 rs751631683 0.000 synonymousGAla [A]331
contig referenceAAla [A]331
1238288255 rs1311378061 N.D. synonymousAVal [V]330
contig referenceGVal [V]330
1238290253 rs755088882 0.000 missenseAMet [M]130
contig referenceGVal [V]130
1238291252 rs1244679413 N.D. synonymousTLeu [L]329
contig referenceGLeu [L]329
1238294249 rs781084079 0.000byFreq synonymousAPro [P]328
contig referenceCPro [P]328
1238300243 rs979465083 N.D. synonymousAPro [P]326
synonymousCPro [P]326
contig referenceGPro [P]326
1238301242 rs1201980722 N.D. missenseTLeu [L]226
contig referenceCPro [P]226
1238303240 rs748105191 0.000 synonymousTHis [H]325
contig referenceCHis [H]325
1238306237 rs1231908094 N.D. synonymousALeu [L]324
contig referenceGLeu [L]324
1238309234 rs572177087 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]323
contig referenceCPro [P]323
1238311232 rs1461023930 N.D. missenseTSer [S]123
contig referenceCPro [P]123
1238312231 rs1179581663 N.D. synonymousCGly [G]322
contig referenceGGly [G]322
1238314229 rs1240591630 N.D. missenseAArg [R]122
contig referenceGGly [G]122
1238315228 rs546003895 0.000byFreqWith1000GenomeData0.0002 missenseGLys [K]321
synonymousTAsn [N]321
contig referenceCAsn [N]321
1238319224 rs1163045853 N.D. missenseCThr [T]220
contig referenceTMet [M]220
1238324219 rs1414593862 N.D. synonymousAPro [P]318
contig referenceGPro [P]318
1238329214 rs1395137120 N.D. missenseGAla [A]117
contig referenceCPro [P]117
1238331212 rs1407102746 N.D. missenseAGln [Q]216
contig referenceGArg [R]216
1238335208 rs563992643 0.000With1000GenomeData0.0002 missenseAIle [I]115
contig referenceGVal [V]115
1238336207 rs770605876 0.000 synonymousTGly [G]314
contig referenceCGly [G]314
1248922199 rs541026437 0.002byFreqWith1000GenomeData0.0008 missenseTSer [S]112
contig referenceCPro [P]112
1248924197 rs768733368 0.009byFreq missenseCPro [P]211
contig referenceTLeu [L]211
1248925196 rs1255361099 N.D. missenseGVal [V]111
synonymousTLeu [L]111
contig referenceCLeu [L]111
1248926195 rs552980156 0.002byFreqWith1000GenomeData0.0008 synonymousAGly [G]310
contig referenceCGly [G]310
1248927194 rs951171358 N.D. missenseTVal [V]210
contig referenceGGly [G]210
1248929192 rs1483522609 N.D. synonymousALys [K]39
contig referenceGLys [K]39
1248932189 rs1458035918 N.D. missenseGLys [K]38
contig referenceCAsn [N]38
1248933188 rs776981883 0.002 missenseGSer [S]28
contig referenceAAsn [N]28
1248935186 rs748228727 0.002 synonymousTLeu [L]37
contig referenceCLeu [L]37
1248941180 rs1378984937 N.D. synonymousTHis [H]35
contig referenceCHis [H]35
1248944177 rs1016682824 N.D. synonymousASer [S]34
synonymousTSer [S]34
contig referenceGSer [S]34
1248945176 rs1259048168 N.D. missenseGTrp [W]24
missenseTLeu [L]24
contig referenceCSer [S]24
1248947174 rs962899237 N.D. synonymousTSer [S]33
contig referenceCSer [S]33
1248950171 rs770010536 0.002 synonymousTGly [G]32
contig referenceCGly [G]32