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dbSNP

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SNP linked to Gene (geneID:1368) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_198320.3minus strandNP_938079.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
NM_001874.4minus strandNP_001865.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
NM_001005502.2minus strandNP_001005502.1reverseNT_029419.13GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001748584.1362, 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
688516236187 rs1218708991 N.D. -
688518395971 rs1384889348 N.D. -
688524845323 rs1225205983 N.D. -
688525085302 rs1257298196 N.D. -
688525345264 rs1422400734 N.D. -
688525505248 rs1324516305 N.D. -
688525515256 rs1285499933 N.D. -
688525545256 rs1372286115 N.D. -
688529354875 rs1383699154 N.D. -
688534494343 rs145994252 0.010byClusterbyFreqWith1000GenomeData0.0050 -
688534534339 rs374357587 N.D. -
688536654145 rs1381236280 N.D. -
688537284082 rs1489423576 N.D. -
688537704040 rs1173029901 N.D. -
688538443966 rs1333306899 N.D. -
688538743936 rs921390972 N.D. -
688540693741 rs1372214025 N.D. -
688545403255 rs1181456954 N.D. -
688545593251 rs1198373613 N.D. -
688546723138 rs1375907620 N.D. -
688556542156 rs540803709 0.002byClusterbyFreqWith1000GenomeData0.0008 -
688557342073 rs1245626061 N.D. -
688561171693 rs1334513973 N.D. -
688564481364 rs1050912685 N.D. missenseCLeu [L]1441
contig referenceTPhe [F]1441
688564511361 rs1318086893 N.D. missenseGVal [V]1440
contig referenceAIle [I]1440
688564521360 rs1242756654 N.D. missenseAGln [Q]3439
contig referenceCHis [H]3439
688564571354 rs1284348212 N.D. CTTLeu [L]3438
688564611351 rs763570499 0.000byFreq missenseGArg [R]3436
synonymousCSer [S]3436
contig referenceTSer [S]3436
688564651347 rs200495418 0.000byClusterbyFreq YesmissenseAGlu [E]2435
contig referenceTVal [V]2435
688564661346 rs1281840905 N.D. missenseAMet [M]1435
missenseCLeu [L]1435
contig referenceGVal [V]1435
688564661346 rs1451418652 N.D. frame shift-1435
contig referenceGVal [V]1435
688564681344 rs1271084166 N.D. missenseCSer [S]2434
contig referenceTLeu [L]2434
688564691343 rs569139582 0.000byClusterbyFreq missenseGVal [V]1434
contig referenceTLeu [L]1434
688564701342 rs1166905799 N.D. missenseGLeu [L]3433
contig referenceTPhe [F]3433
688564831329 rs150803446 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCThr [T]2429
contig referenceGSer [S]2429
688564931319 rs758307993 0.000byFreq missenseGAla [A]1426
contig referenceAThr [T]1426
688564951317 rs1225118329 N.D. missenseTVal [V]2425
contig referenceCAla [A]2425
688564961316 rs1375908187 N.D. missenseAThr [T]1425
contig referenceGAla [A]1425
688565001312 rs920434106 N.D. synonymousGSer [S]3423
contig referenceASer [S]3423
688565051307 rs779894666 0.000 missenseAAsn [N]1422
contig referenceCHis [H]1422
688565081304 rs751787601 0.000 missenseCHis [H]1421
contig referenceGAsp [D]1421
688565091303 rs755166143 0.000 synonymousTPro [P]3420
contig referenceAPro [P]3420
688565111301 rs868766423 N.D.byCluster missenseTSer [S]1420
contig referenceCPro [P]1420
688565211291 rs761928271 0.000byFreq nonsenseG3416
synonymousTTyr [Y]3416
contig referenceCTyr [Y]3416
688565221290 rs1357919158 N.D. missenseGCys [C]2416
contig referenceATyr [Y]2416
688565231289 rs1347805300 N.D. missenseCHis [H]1416
contig referenceTTyr [Y]1416
688565251287 rs1414698486 N.D. missenseCPro [P]2415
contig referenceTLeu [L]2415
688565271285 rs748182899 0.000 synonymousCPro [P]3414
contig referenceTPro [P]3414
688565351277 rs570491377 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]1412
contig referenceAMet [M]1412
688565381274 rs778304935 0.000byFreq missenseTSer [S]1411
contig referenceCPro [P]1411
688565451267 rs749767286 0.000 synonymousGPro [P]3408
contig referenceTPro [P]3408
688565471265 rs771269967 0.000byFreq missenseAThr [T]1408
contig referenceCPro [P]1408
688565501262 rs1344720749 N.D. missenseCHis [H]1407
contig referenceAAsn [N]1407
688565521260 rs770283891 N.D. nonsenseA2406
contig referenceCSer [S]2406
688565571255 rs765545433 N.D. synonymousGPro [P]3404
contig referenceAPro [P]3404
688565601252 rs1376659649 N.D. missenseGMet [M]3403
contig referenceCIle [I]3403
688565611251 rs773598578 N.D. missenseCThr [T]2403
contig referenceTIle [I]2403
688565631249 rs1247236136 N.D. synonymousCSer [S]3402
contig referenceTSer [S]3402
688565641248 rs1402680314 N.D. missenseGCys [C]2402
contig referenceCSer [S]2402
688565661246 rs202163169 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGGlu [E]3401
contig referenceTAsp [D]3401
688565711241 rs762786691 0.000 synonymousCLeu [L]1400
contig referenceTLeu [L]1400
688565771235 rs1220913507 N.D. missenseAArg [R]1398
contig referenceGGly [G]1398
688565791229 rs1251979370 N.D. frame shift-Arg [R]1396
contig referenceTTCCAPhe [F]1396
688565811231 rs889194426 N.D. synonymousTPhe [F]3396
contig referenceCPhe [F]3396
688565831229 rs1471793964 N.D. missenseCLeu [L]1396
contig referenceTPhe [F]1396
688565911221 rs1458984670 N.D. missenseCPro [P]2393
contig referenceTLeu [L]2393
688565981214 rs944739447 N.D. missenseTTyr [Y]1391
contig referenceGAsp [D]1391
688566031209 rs768289010 0.000 missenseTIle [I]2389
contig referenceALys [K]2389
688566101202 rs776037058 0.000 missenseTSer [S]1387
contig referenceGAla [A]1387
688566111201 rs761360372 0.000byFreq missenseGArg [R]3386
contig referenceTSer [S]3386
688566121200 rs1185236277 N.D. missenseAAsn [N]2386
contig referenceGSer [S]2386
688566131199 rs1366655950 N.D. missenseCArg [R]1386
contig referenceASer [S]1386
688566171195 rs766289045 N.D. missenseALys [K]3384
contig referenceCAsn [N]3384
688566211191 rs1259591892 N.D. missenseTLeu [L]2383
contig referenceAGln [Q]2383
688566221190 rs1411171977 N.D. missenseGGlu [E]1383
contig referenceCGln [Q]1383
688566291183 rs1191454154 N.D. missenseCAsp [D]3380
contig referenceGGlu [E]3380
688566311181 rs764807912 0.000 missenseALys [K]1380
contig referenceGGlu [E]1380
688566321180 rs201687643 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]3379
contig referenceGPro [P]3379
688566331179 rs139235186 0.000byClusterbyFreq YesmissenseTLeu [L]2379
contig referenceCPro [P]2379
688566441168 rs766096433 0.000byFreq synonymousALys [K]3375
contig referenceGLys [K]3375
688566481164 rs1319618223 N.D. missenseGArg [R]2374
contig referenceCThr [T]2374
688566501162 rs1329885741 N.D. synonymousAIle [I]3373
contig referenceCIle [I]3373
688566521160 rs1376867143 N.D. missenseGVal [V]1373
contig referenceAIle [I]1373
688566571154 rs1271624202 N.D. frame shift-Thr [T]1371
contig referenceCCPro [P]1371
688566581154 rs1013742887 N.D. missenseTSer [S]1371
contig referenceCPro [P]1371
688566591153 rs751298118 0.000 missenseGGlu [E]3370
contig referenceTAsp [D]3370
688566611151 rs755183423 0.000 missenseAAsn [N]1370
contig referenceGAsp [D]1370
688566631149 rs1441646806 N.D. missenseCPro [P]2369
missenseGArg [R]2369
contig referenceAHis [H]2369
688566641148 rs1227964944 N.D. missenseAAsn [N]1369
contig referenceCHis [H]1369
688566651147 rs1296336058 N.D. synonymousGGly [G]3368
contig referenceAGly [G]3368
688566681144 rs201329072 N.D.byClusterWith1000GenomeData YessynonymousCPro [P]3367
contig referenceTPro [P]3367
688566711141 rs1320121322 N.D. synonymousAVal [V]3366
synonymousTVal [V]3366
contig referenceCVal [V]3366
688566721140 rs1196878793 N.D. missenseCAla [A]2366
contig referenceTVal [V]2366
688566791133 rs781424205 0.000 missenseAIle [I]1364
missenseTPhe [F]1364
contig referenceGVal [V]1364
688589261129 rs1184397493 N.D. missenseGMet [M]3362
contig referenceAIle [I]3362
688589331122 rs752985109 0.000 missenseGCys [C]2360
contig referenceATyr [Y]2360
688589341121 rs1192233472 N.D. missenseCHis [H]1360
contig referenceTTyr [Y]1360
688589351120 rs1143653 0.306byClusterbyFreqWith1000GenomeData0.1811 YessynonymousCSer [S]3359
contig referenceTSer [S]3359
688589381117 rs1189554446 N.D. synonymousTGly [G]3358
contig referenceGGly [G]3358
688589401115 rs1478619265 N.D. missenseAArg [R]1358
contig referenceGGly [G]1358
688589431112 rs1174850401 N.D. missenseGAla [A]1357
contig referenceCPro [P]1357
688589461109 rs764172106 0.000byFreq synonymousCLeu [L]1356
contig referenceTLeu [L]1356
688589481105 rs1414229023 N.D. -3356
688589571098 rs1319465079 N.D. missenseTPhe [F]2352
contig referenceATyr [Y]2352
688589581097 rs1362676028 N.D. missenseCHis [H]1352
contig referenceTTyr [Y]1352
688589711084 rs1321763506 N.D. missenseCAsn [N]3347
contig referenceALys [K]3347
688589741081 rs753851972 0.000 synonymousTAsn [N]3346
contig referenceCAsn [N]3346
688589831072 rs1297617432 N.D. synonymousCTyr [Y]3343
contig referenceTTyr [Y]3343
688589841071 rs911632640 N.D. missenseGCys [C]2343
contig referenceATyr [Y]2343
688589951060 rs1346259252 N.D. synonymousCHis [H]3339
contig referenceTHis [H]3339
688589961059 rs147258017 0.000byClusterbyFreq YesmissenseGArg [R]2339
contig referenceAHis [H]2339
688589971058 rs1292200779 N.D. missenseTTyr [Y]1339
contig referenceCHis [H]1339
688590001055 rs779430298 0.000 missenseGGlu [E]1338
contig referenceALys [K]1338
688590061049 rs746341475 0.000 missenseAAsn [N]1336
contig referenceGAsp [D]1336
688590081047 rs1224118143 N.D. missenseTLeu [L]2335
contig referenceAGln [Q]2335
688590091046 rs1436960622 N.D. missenseALys [K]1335
contig referenceCGln [Q]1335
688590201035 rs1365235176 N.D. missenseCThr [T]2331
contig referenceTIle [I]2331
688590261029 rs758861984 0.000 missenseGSer [S]2329
contig referenceAAsn [N]2329
688590271028 rs1350967520 N.D. missenseCHis [H]1329
missenseTTyr [Y]1329
contig referenceAAsn [N]1329
688590351020 rs1319383201 N.D. missenseTLeu [L]2326
contig referenceCPro [P]2326
688590371018 rs1215481607 N.D. missenseGLys [K]3325
contig referenceTAsn [N]3325
688590391016 rs371003310 0.000byClusterbyFreq YesmissenseCHis [H]1325
missenseTTyr [Y]1325
contig referenceAAsn [N]1325
688590511004 rs747811470 0.000 missenseTTyr [Y]1321
contig referenceGAsp [D]1321
68859062993 rs769504248 0.000 missenseAAsp [D]2317
contig referenceGGly [G]2317
68859063992 rs772879813 0.000byFreq missenseASer [S]1317
missenseCArg [R]1317
contig referenceGGly [G]1317
68859064991 rs770323403 0.000byFreq synonymousALys [K]3316
contig referenceGLys [K]3316
68859069986 rs1159564390 N.D. missenseAIle [I]1315
contig referenceGVal [V]1315
68866899980 rs760182716 0.000 frame shift-1313
contig referenceCLeu [L]1313
68866903976 rs780565530 0.000 synonymousAVal [V]3311
contig referenceGVal [V]3311
68866904975 rs751932785 0.000byFreq missenseCAla [A]2311
contig referenceTVal [V]2311
68866905974 rs1459653542 N.D. missenseTLeu [L]1311
contig referenceGVal [V]1311
68866912967 rs571167421 0.000With1000GenomeData0.0002 missenseGMet [M]3308
contig referenceAIle [I]3308
68866914965 rs754707168 N.D. missenseGVal [V]1308
contig referenceAIle [I]1308
68866927952 rs777616637 0.000 synonymousGSer [S]3303
contig referenceASer [S]3303
68866929950 rs1367375190 N.D. missenseCPro [P]1303
contig referenceTSer [S]1303
68866931948 rs1466030752 N.D. missenseTVal [V]2302
contig referenceCAla [A]2302
68866932947 rs1333259215 N.D. missenseAThr [T]1302
contig referenceGAla [A]1302
68866936943 rs373408348 0.000byClusterbyFreq YesmissenseALys [K]3300
missenseGLys [K]3300
synonymousTAsn [N]3300
contig referenceCAsn [N]3300
68866940939 rs140807579 0.000byClusterbyFreq YesmissenseGSer [S]2299
contig referenceAAsn [N]2299
68866945934 rs745831691 0.000 missenseTCys [C]3297
contig referenceGTrp [W]3297
68866954925 rs771929645 0.000 synonymousGPro [P]3294
contig referenceAPro [P]3294
68866963916 rs1369874048 N.D. synonymousAGlu [E]3291
contig referenceGGlu [E]3291
68866965914 rs983239789 N.D. missenseCGln [Q]1291
contig referenceGGlu [E]1291
68866970909 rs144731700 0.000byClusterbyFreq YesmissenseAHis [H]2289
missenseTLeu [L]2289
contig referenceGArg [R]2289
68866971908 rs538250941 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]1289
contig referenceCArg [R]1289
68866975904 rs1339452163 N.D. synonymousCTyr [Y]3287
contig referenceTTyr [Y]3287
68866987892 rs1200029393 N.D. synonymousGSer [S]3283
contig referenceASer [S]3283
68866988891 rs1260551032 N.D. missenseTLeu [L]2283
contig referenceCSer [S]2283
68866992887 rs768420844 0.000 missenseAMet [M]1282
missenseGVal [V]1282
contig referenceCLeu [L]1282
68866993886 rs776955004 0.000 synonymousAGlu [E]3281
contig referenceGGlu [E]3281
68866997882 rs761925876 0.000 missenseCSer [S]2280
contig referenceTLeu [L]2280
68866998881 rs556887389 0.000byFreqWith1000GenomeData0.0002 missenseAMet [M]1280
synonymousCLeu [L]1280
contig referenceTLeu [L]1280
68866999880 rs33925480 0.185byClusterbyFreqWith1000GenomeData0.0667 YessynonymousAThr [T]3279
synonymousTThr [T]3279
contig referenceGThr [T]3279
68867000879 rs763585354 0.000 missenseTMet [M]2279
contig referenceCThr [T]2279
68867007872 rs766943066 0.000 nonsenseT1277
contig referenceGGlu [E]1277
68867015864 rs1172994241 N.D. missenseCPro [P]2274
missenseGArg [R]2274
contig referenceAGln [Q]2274
68867020859 rs1421369561 N.D. nonsenseA3272
contig referenceGTrp [W]3272
68867025854 rs752088545 0.000byFreq missenseGVal [V]1271
contig referenceAIle [I]1271
68867041838 rs755433068 0.000 missenseAIle [I]3265
contig referenceGMet [M]3265
68867047832 rs781688530 0.000 synonymousGGly [G]3263
contig referenceTGly [G]3263
68869331824 rs1407249519 N.D. missenseTPhe [F]1261
contig referenceCLeu [L]1261
68869335820 rs576433352 0.000With1000GenomeData0.0002 synonymousCTyr [Y]3259
contig referenceTTyr [Y]3259
68869338817 rs779537699 0.000byFreq missenseTCys [C]3258
contig referenceGTrp [W]3258
68869341814 rs1261057931 N.D. synonymousCSer [S]3257
contig referenceTSer [S]3257
68869343812 rs1006581715 N.D. missenseAThr [T]1257
missenseGAla [A]1257
contig referenceTSer [S]1257
68869347808 rs746959916 0.000 synonymousGGly [G]3255
synonymousTGly [G]3255
contig referenceAGly [G]3255
68869357798 rs899289447 N.D. missenseAAsp [D]2252
contig referenceTVal [V]2252
68869362793 rs201799629 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCAsn [N]3250
contig referenceTAsn [N]3250
68869363792 rs1026729471 N.D. missenseGSer [S]2250
contig referenceAAsn [N]2250
68869365790 rs1177845863 N.D. synonymousCPro [P]3249
contig referenceTPro [P]3249
68869368787 rs142958518 0.000byCluster YessynonymousCPhe [F]3248
contig referenceTPhe [F]3248
68869376779 rs781069003 0.000byFreq missenseGVal [V]1246
contig referenceAMet [M]1246
68869384771 rs993173804 N.D. missenseGArg [R]2243
contig referenceALys [K]2243
68869389766 rs747845285 0.000 synonymousAGlu [E]3241
contig referenceGGlu [E]3241
68869391764 rs769607646 0.000byClusterbyFreq missenseALys [K]1241
contig referenceGGlu [E]1241
68869392763 rs374928992 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTAsp [D]3240
contig referenceCAsp [D]3240
68869395760 rs200349035 0.002byCluster YessynonymousGGly [G]3239
contig referenceAGly [G]3239
68869405750 rs1421090455 N.D. missenseALys [K]2236
missenseCThr [T]2236
contig referenceTMet [M]2236
68869410745 rs574706948 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]3234
contig referenceCPro [P]3234
68869419736 rs771195054 0.000 synonymousGSer [S]3231
contig referenceASer [S]3231
68869426729 rs774516111 0.000 missenseGCys [C]2229
contig referenceATyr [Y]2229
68869429725 rs1316268664 N.D. frame shiftAAsn [N]1228
contig reference-Thr [T]1228
68869430725 rs542142468 0.000With1000GenomeData0.0002 missenseCPro [P]1228
contig referenceAThr [T]1228
68869432723 rs767872359 0.000byFreq missenseGArg [R]2227
missenseTLeu [L]2227
contig referenceAHis [H]2227
68869435720 rs775950249 0.000byFreq missenseGGly [G]2226
missenseTVal [V]2226
contig referenceCAla [A]2226
68869437718 rs369213604 0.000byCluster YessynonymousCLeu [L]3225
contig referenceTLeu [L]3225
68869443712 rs1313779411 N.D. synonymousGGln [Q]3223
contig referenceAGln [Q]3223
68869452703 rs1378134912 N.D. synonymousCAsp [D]3220
contig referenceTAsp [D]3220
68869461694 rs1242827191 N.D. synonymousCPro [P]3217
contig referenceTPro [P]3217
68869464691 rs760998047 0.000byFreq synonymousAThr [T]3216
contig referenceGThr [T]3216
68869465690 rs764491691 0.000byClusterbyFreq missenseTMet [M]2216
contig referenceCThr [T]2216
68869471667 rs772689775 0.000 -3209
68869473682 rs965337679 N.D. synonymousGArg [R]3213
contig referenceAArg [R]3213
68869474681 rs750829225 N.D. missenseAGln [Q]2213
contig referenceGArg [R]2213
68869477678 rs750145450 0.000 missenseTPhe [F]2212
contig referenceCSer [S]2212
68869482673 rs1238770439 N.D. missenseTPhe [F]3210
contig referenceALeu [L]3210
68869483672 rs141114510 0.000byClusterbyFreq YesmissenseCSer [S]2210
contig referenceTLeu [L]2210
68869487668 rs1160392365 N.D. missenseTSer [S]1209
contig referenceGAla [A]1209
68869488667 rs1176615870 N.D. synonymousCGly [G]3208
contig referenceGGly [G]3208
68870216658 rs1483347671 N.D. missenseCHis [H]3205
missenseTHis [H]3205
contig referenceAGln [Q]3205
68870219655 rs1183257756 N.D. synonymousCVal [V]3204
contig referenceTVal [V]3204
68870224650 rs745895372 0.000 missenseASer [S]1203
contig referenceGGly [G]1203
68870226648 rs1411241379 N.D. missenseGSer [S]2202
contig referenceAAsn [N]2202
68870232642 rs1309486604 N.D. missenseCSer [S]2200
contig referenceTPhe [F]2200
68870233641 rs1368395397 N.D. missenseGVal [V]1200
contig referenceTPhe [F]1200
68870237637 rs200621816 0.000byClusterWith1000GenomeData0.0002 YessynonymousTTyr [Y]3198
contig referenceCTyr [Y]3198
68870248626 rs772173576 0.000byFreq missenseAMet [M]1195
missenseTLeu [L]1195
contig referenceGVal [V]1195
68870249625 rs759455218 0.000byFreq synonymousTLeu [L]3194
contig referenceCLeu [L]3194
68870253621 rs1424897458 N.D. missenseAAsp [D]2193
missenseTVal [V]2193
contig referenceCAla [A]2193
68870254620 rs1371664076 N.D. missenseAThr [T]1193
contig referenceGAla [A]1193
68870256618 rs761242749 0.000byFreq missenseTVal [V]2192
contig referenceGGly [G]2192
68870258616 rs1329684645 N.D. synonymousAGly [G]3191
contig referenceTGly [G]3191
68870259615 rs1354338892 N.D. missenseTVal [V]2191
contig referenceGGly [G]2191
68870260614 rs1449280321 N.D. missenseASer [S]1191
missenseTCys [C]1191
contig referenceGGly [G]1191
68870262612 rs764426969 0.000 missenseGArg [R]2190
contig referenceAHis [H]2190
68870264610 rs1010741458 N.D. synonymousTLeu [L]3189
contig referenceCLeu [L]3189
68870267607 rs1232734636 N.D. synonymousTAsn [N]3188
contig referenceCAsn [N]3188
68870269605 rs776910788 0.000 missenseGAsp [D]1188
contig referenceAAsn [N]1188
68870278596 rs762621752 0.000 missenseGVal [V]1185
contig referenceCLeu [L]1185
68870279595 rs765962593 0.000 synonymousTVal [V]3184
contig referenceCVal [V]3184
68870281593 rs751187379 0.000byFreq missenseAIle [I]1184
missenseTPhe [F]1184
contig referenceGVal [V]1184
68870285589 rs1312529935 N.D. synonymousAThr [T]3182
synonymousTThr [T]3182
contig referenceGThr [T]3182
68870286588 rs377692592 0.000byCluster YesmissenseTMet [M]2182
contig referenceCThr [T]2182
68870300574 rs1292638463 N.D. nonsenseA3177
contig referenceGTrp [W]3177
68870301573 rs752632758 0.000 nonsenseA2177
contig referenceGTrp [W]2177
68870303571 rs1211831366 N.D. missenseCAsn [N]3176
contig referenceGLys [K]3176
68870304570 rs1337753069 N.D. missenseGArg [R]2176
contig referenceALys [K]2176
68870309565 rs756023384 0.000 synonymousAVal [V]3174
contig referenceCVal [V]3174
68870312562 rs150295633 0.000byClusterbyFreq YessynonymousCAla [A]3173
synonymousGAla [A]3173
contig referenceAAla [A]3173
68870318556 rs137903237 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCThr [T]3171
contig referenceTThr [T]3171
68870321553 rs542005461 0.000With1000GenomeData0.0002 missenseCAsp [D]3170
contig referenceAGlu [E]3170
68870338536 rs1281236209 N.D. missenseAIle [I]1165
contig referenceGVal [V]1165
68870339533 rs1358836027 N.D. -1164
68870345529 rs202087861 0.000byClusterWith1000GenomeData0.0002 YessynonymousCTyr [Y]3162
contig referenceTTyr [Y]3162
68870346528 rs941428418 N.D. missenseGCys [C]2162
contig referenceATyr [Y]2162
68870347527 rs772112072 0.000byFreq missenseCHis [H]1162
contig referenceTTyr [Y]1162
68870354520 rs780171947 0.000 synonymousAAla [A]3159
contig referenceTAla [A]3159
68870359515 rs747472128 0.000 missenseAAsn [N]1158
contig referenceGAsp [D]1158
68870360514 rs769163983 0.000byFreq synonymousTPro [P]3157
contig referenceCPro [P]3157
68870363511 rs776998556 0.000 synonymousTPhe [F]3156
contig referenceCPhe [F]3156
68870370504 rs200496918 0.000byClusterbyFreq YesmissenseAGln [Q]2154
contig referenceGArg [R]2154
68870371503 rs770112320 0.000 nonsenseT1154
synonymousAArg [R]1154
contig referenceCArg [R]1154
68870372502 rs572340538 0.000With1000GenomeData0.0002 synonymousCAsn [N]3153
contig referenceTAsn [N]3153
68870377497 rs759211585 0.000byFreq synonymousCLeu [L]1152
contig referenceTLeu [L]1152
68870378496 rs1345713700 N.D. synonymousTAsp [D]3151
contig referenceCAsp [D]3151
68870382492 rs1426265636 N.D. missenseGCys [C]2150
contig referenceATyr [Y]2150
68870384490 rs1257446789 N.D. synonymousAGln [Q]3149
contig referenceGGln [Q]3149
68870390484 rs1480421919 N.D. nonsenseA3147
contig referenceTTyr [Y]3147
68870391483 rs140860259 0.003byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGCys [C]2147
contig referenceATyr [Y]2147
68870395479 rs1276252170 N.D. missenseGAsp [D]1146
contig referenceAAsn [N]1146
68870399475 rs752185553 0.000 missenseCSer [S]3144
contig referenceGArg [R]3144
68871784474 rs1010019344 N.D. missenseALys [K]2144
contig referenceGArg [R]2144
68871788470 rs891753259 N.D. missenseAArg [R]1143
contig referenceGGly [G]1143
68871789469 rs563850545 0.000byFreqWith1000GenomeData0.0002 synonymousTIle [I]3142
contig referenceCIle [I]3142
68871792466 rs773505991 0.000 synonymousTSer [S]3141
contig referenceCSer [S]3141
68871793465 rs1454083523 N.D. missenseCThr [T]2141
contig referenceGSer [S]2141
68871798460 rs2228654 0.497byClusterbyFreqWith1000GenomeData0.4910 YesnonsenseA3139
synonymousCTyr [Y]3139
contig referenceTTyr [Y]3139
68871801457 rs1298933191 N.D. synonymousCCys [C]3138
contig referenceTCys [C]3138
68871802456 rs1421739313 N.D. missenseATyr [Y]2138
contig referenceGCys [C]2138
68871803455 rs200109630 0.000byClusterWith1000GenomeData0.0002 YesmissenseCArg [R]1138
contig referenceTCys [C]1138
68871818440 rs7309831 0.009byClusterbyFreqWith1000GenomeData0.0124 YesmissenseAIle [I]1133
contig referenceGVal [V]1133
68871819439 rs763669339 0.000byFreq synonymousTAla [A]3132
contig referenceCAla [A]3132
68871826432 rs776780426 0.000byFreq missenseGCys [C]2130
contig referenceTPhe [F]2130
68871831427 rs761830762 0.000 synonymousCAsp [D]3128
contig referenceTAsp [D]3128
68871835423 rs371394523 0.000byClusterbyFreq YesmissenseTLeu [L]2127
contig referenceCPro [P]2127
68871836422 rs1393736332 N.D. missenseAThr [T]1127
missenseGAla [A]1127
contig referenceCPro [P]1127
68871838420 rs373601584 0.000byCluster YesmissenseGSer [S]2126
contig referenceAAsn [N]2126
68871841417 rs758569335 0.000 missenseALys [K]2125
contig referenceTMet [M]2125
68871844414 rs1374110714 N.D. missenseTPhe [F]2124
contig referenceCSer [S]2124
68871846412 rs766669468 0.000 synonymousAPro [P]3123
contig referenceTPro [P]3123
68871854404 rs751697670 0.000 missenseGVal [V]1121
contig referenceAIle [I]1121
68871858400 rs755115719 0.000 missenseGMet [M]3119
contig referenceAIle [I]3119
68871860398 rs1357820788 N.D. missenseCLeu [L]1119
contig referenceAIle [I]1119
68871862396 rs200449803 0.000byClusterbyFreq YesmissenseAGln [Q]2118
contig referenceGArg [R]2118
68871868390 rs748665239 0.000byFreq missenseAAsn [N]2116
contig referenceGSer [S]2116
68871871387 rs371647855 0.000byClusterbyFreq YesmissenseGSer [S]2115
contig referenceAAsn [N]2115
68871873385 rs528640395 0.000With1000GenomeData0.0002 missenseGMet [M]3114
contig referenceCIle [I]3114
68871880378 rs1195306300 N.D. frame shift-Ile [I]2112
contig referenceAAsn [N]2112
68871888369 rs765016580 0.000byFreq (33bp) [cds-indel]2108
68871894364 rs1436244285 N.D. missenseAGlu [E]3107
contig referenceCAsp [D]3107
68871896362 rs749617350 0.000byFreq missenseAAsn [N]1107
missenseTTyr [Y]1107
contig referenceGAsp [D]1107
68871903355 rs771177894 0.000 missenseGGlu [E]3104
contig referenceTAsp [D]3104
68871904354 rs1245713092 N.D. missenseTVal [V]2104
contig referenceAAsp [D]2104
68871905353 rs1473817298 N.D. missenseAAsn [N]1104
contig referenceGAsp [D]1104
68871910348 rs1221875332 N.D. missenseTIle [I]2102
contig referenceCThr [T]2102
68871914344 rs547105880 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]1101
contig referenceGVal [V]1101
68871915343 rs746659021 0.000byClusterbyFreq synonymousTLeu [L]3100
contig referenceCLeu [L]3100
68871919339 rs200159655 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCSer [S]299
missenseGCys [C]299
missenseTPhe [F]299
contig referenceATyr [Y]299
68871925333 rs149301581 0.000byCluster YesmissenseCThr [T]297
contig referenceTIle [I]297
68871926332 rs539259654 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]197
contig referenceAIle [I]197
68871936322 rs765214841 0.000byFreq synonymousALeu [L]393
contig referenceGLeu [L]393
68871939319 rs144566244 0.000byClusterbyFreqWith1000GenomeData YessynonymousTLeu [L]392
contig referenceGLeu [L]392
68871945313 rs762843219 0.000 synonymousAArg [R]390
contig referenceGArg [R]390
68871946312 rs766079955 0.000byFreq missenseAGln [Q]290
contig referenceGArg [R]290
68871947311 rs984733960 N.D. missenseTTrp [W]190
contig referenceCArg [R]190
68871950308 rs1445152090 N.D. missenseTTrp [W]189
contig referenceGGly [G]189
68871953305 rs751865131 0.000 missenseAIle [I]188
contig referenceGVal [V]188
68885792301 rs1407556276 N.D. synonymousAGlu [E]386
contig referenceGGlu [E]386
68885798295 rs762786001 0.000byFreq synonymousCGly [G]384
synonymousGGly [G]384
contig referenceAGly [G]384
68885801292 rs773948518 0.000 synonymousCHis [H]383
contig referenceTHis [H]383
68885813280 rs1279937389 N.D. synonymousAVal [V]379
contig referenceGVal [V]379
68885816277 rs758125830 0.000byFreq synonymousTTyr [Y]378
contig referenceCTyr [Y]378
68885828265 rs767678446 0.000 synonymousGPro [P]374
contig referenceAPro [P]374
68885834259 rs752895022 0.000 synonymousAGly [G]372
contig referenceGGly [G]372
68885835257 rs867555749 N.D. frame shiftTVal [V]172
contig reference-Gly [G]172
68885836256 rs762387844 0.000byClusterbyFreq frame shiftTTrp [W]372
contig reference-Gly [G]372
68885836257 rs946111671 N.D. missenseAArg [R]172
contig referenceGGly [G]172
68885838255 rs1041764773 N.D. missenseGSer [S]271
contig referenceTIle [I]271
68885851242 rs760786418 0.000byFreq missenseGGlu [E]167
contig referenceALys [K]167
68885859234 rs764078716 0.000byFreq missenseAGln [Q]264
contig referenceGArg [R]264
68885860233 rs754429697 0.000 missenseTTrp [W]164
contig referenceCArg [R]164
68885863230 rs766232836 N.D. missenseAArg [R]163
contig referenceGGly [G]163
68885864229 rs1172595790 N.D. synonymousAVal [V]362
contig referenceGVal [V]362
68885868225 rs1360847103 N.D. missenseCAla [A]261
contig referenceTVal [V]261
68885870223 rs1182684678 N.D. synonymousALeu [L]360
contig referenceTLeu [L]360
68885879214 rs757650398 0.000 synonymousCLeu [L]357
contig referenceGLeu [L]357
68885882211 rs779343663 0.000 missenseGLys [K]356
synonymousTAsn [N]356
contig referenceCAsn [N]356
68932678203 rs764250441 0.000 missenseASer [S]154
contig referenceGGly [G]154
68932682199 rs1377838311 N.D. synonymousCVal [V]352
contig referenceGVal [V]352
68932684197 rs753797758 0.000 missenseAMet [M]152
contig referenceGVal [V]152
68932688193 rs956529448 N.D. synonymousGLys [K]350
contig referenceALys [K]350
68932689192 rs762417629 0.000 missenseGArg [R]250
contig referenceALys [K]250
68932695186 rs988639737 N.D. missenseCThr [T]248
contig referenceTIle [I]248
68932696185 rs1022359876 N.D. missenseTPhe [F]148
contig referenceAIle [I]148
68932698183 rs765708241 0.000 missenseAAsn [N]247
contig referenceGSer [S]247
68932703178 rs968060805 N.D. synonymousGLeu [L]345
contig referenceALeu [L]345
68932706175 rs141809246 0.000byClusterbyFreq YesmissenseAGln [Q]344
synonymousTHis [H]344
contig referenceCHis [H]344
68932712169 rs1274962339 N.D. synonymousAVal [V]342
contig referenceCVal [V]342
68932721160 rs144950434 0.000byClusterWith1000GenomeData YessynonymousTTyr [Y]339
contig referenceCTyr [Y]339
68932724157 rs1376488134 N.D. synonymousTAsn [N]338
contig referenceCAsn [N]338
68932727154 rs369604369 0.000byClusterbyFreq YessynonymousGGln [Q]337
contig referenceAGln [Q]337
68932728153 rs568959442 0.000byFreqWith1000GenomeData0.0006 missenseGArg [R]237
contig referenceAGln [Q]237
68932731150 rs1238598118 N.D. missenseTVal [V]236
contig referenceCAla [A]236
68932732149 rs780241067 0.000byFreq missenseAThr [T]136
contig referenceGAla [A]136
68932733148 rs992378395 N.D. synonymousAVal [V]335
contig referenceTVal [V]335
68932736145 rs777373715 0.000 synonymousAThr [T]334
contig referenceTThr [T]334
68932744137 rs748696504 0.000 synonymousCLeu [L]132
contig referenceTLeu [L]132
68932751130 rs751028783 0.000byClusterbyFreq frame shift-Arg [R]330
contig referenceAAla [A]330
68932754127 rs1423881283 N.D. missenseAIle [I]328
contig referenceGMet [M]328
68932758123 rs1203047875 N.D. missenseAGlu [E]227
contig referenceGGly [G]227
68932763118 rs770454479 0.000 synonymousAGln [Q]325
contig referenceGGln [Q]325
68932764117 rs747386704 N.D. missenseGArg [R]225
contig referenceAGln [Q]225
68932766115 rs778862929 0.000 synonymousAArg [R]324
contig referenceCArg [R]324
68932767114 rs7978197 0.118byClusterbyFreqwith2hitWith1000GenomeData0.1813 YesmissenseAHis [H]224
missenseTLeu [L]224
contig referenceGArg [R]224
68932769112 rs1044380847 N.D. synonymousTHis [H]323
contig referenceCHis [H]323
68932773108 rs771913214 0.000 missenseGCys [C]222
contig referenceATyr [Y]222
68932776105 rs1401508985 N.D. missenseGSer [S]221
contig referenceAAsn [N]221
68932778103 rs1046809667 N.D. synonymousTPhe [F]320
contig referenceCPhe [F]320
6893278299 rs775211362 0.000 missenseGGly [G]219
contig referenceAAsp [D]219
6893278695 rs747262757 0.000 missenseAMet [M]118
contig referenceCLeu [L]118
6893279982 rs1452092068 N.D. synonymousGPro [P]313
contig referenceTPro [P]313
6893280576 rs768724871 0.000 synonymousALeu [L]311
contig referenceGLeu [L]311
6893280873 rs1396623741 N.D. synonymousALeu [L]310
contig referenceGLeu [L]310
6893281467 rs776797413 0.000 synonymousGLeu [L]38
contig referenceALeu [L]38
6893281566 rs904621041 N.D. missenseGArg [R]28
contig referenceTLeu [L]28
6893282457 rs1347272115 N.D. missenseATyr [Y]25
contig referenceGCys [C]25
6893282655 rs761835944 0.000 synonymousTPro [P]34
contig referenceGPro [P]34
6893282754 rs1285971854 N.D. missenseTLeu [L]24
contig referenceCPro [P]24
6893283249 rs765398939 0.000 missenseGGlu [E]32
contig referenceCAsp [D]32
6893283348 rs773911120 0.000 missenseCAla [A]22
contig referenceAAsp [D]22
6893283645 rs1309004247 N.D. missenseGArg [R]21
contig referenceTMet [M]21
6893283744 rs763493668 0.000 missenseGVal [V]11
contig referenceAMet [M]11