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dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
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SNP linked to Gene (geneID:1355) 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): 10
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_078470.4minus strandNP_510870.1reverseNT_030059.14GRCh38.p7<- currently shown
NM_004376.5minus strandNP_004367.2reverseNT_030059.14GRCh38.p7View snp on GeneModel
XM_017015715.1minus strandXP_016871204.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
XM_011539298.2minus strandXP_011537600.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
XM_006717634.3minus strandXP_006717697.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_078470.5minus strandNP_510870.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_004376.6minus strandNP_004367.2reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001320976.1minus strandNP_001307905.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001320975.1minus strandNP_001307904.1reverseNT_030059.14GRCh38.p7View snp on GeneModel
NM_001320974.1minus strandNP_001307903.1reverseNT_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_078470.4NP_510870.1reverseminus strand375, 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
997134171781 rs770156735 0.000 missenseGMet [M]3388
synonymousTIle [I]3388
contig referenceCIle [I]3388
997134201777 rs1303694614 N.D. frame shiftALys [K]2387
contig reference-Asn [N]2387
997134211777 rs146008497 0.000byClusterbyFreq missenseGSer [S]2387
contig referenceAAsn [N]2387
997134261772 rs1268620585 N.D. missenseGMet [M]3385
contig referenceCIle [I]3385
997134281770 rs1349359181 N.D. missenseGVal [V]1385
contig referenceAIle [I]1385
997134291769 rs186460666 N.D.With1000GenomeData synonymousTGly [G]3384
contig referenceCGly [G]3384
997134311767 rs1435005100 N.D. missenseASer [S]1384
contig referenceGGly [G]1384
997134351763 rs1162827735 N.D. missenseGGlu [E]3382
contig referenceTAsp [D]3382
997134381760 rs377239224 0.000byClusterbyFreq missenseCPhe [F]3381
contig referenceGLeu [L]3381
997134481750 rs1420531846 N.D. missenseCThr [T]2378
contig referenceTIle [I]2378
997134491749 rs760647511 0.000 frame shift-Ser [S]1378
contig referenceAIle [I]1378
997134601738 rs764593739 0.000 missenseGCys [C]2374
contig referenceTPhe [F]2374
997134641734 rs1477052318 N.D. missenseTTyr [Y]1373
contig referenceAAsn [N]1373
997134651733 rs142892403 0.000byClusterbyFreq missenseGLeu [L]3372
contig referenceCPhe [F]3372
997134671731 rs1452740270 N.D. missenseCLeu [L]1372
contig referenceTPhe [F]1372
997134691729 rs1294072515 N.D. missenseCSer [S]2371
contig referenceTLeu [L]2371
997134731725 rs1200773961 N.D. missenseCLeu [L]1370
contig referenceGVal [V]1370
997134751723 rs368386864 0.000byClusterbyFreq missenseAHis [H]2369
missenseGArg [R]2369
contig referenceCPro [P]2369
997134761722 rs754528085 0.000 missenseTSer [S]1369
contig referenceCPro [P]1369
997163501716 rs771428848 0.000 nonsenseT1367
contig referenceCGln [Q]1367
997163571709 rs374782649 0.000byClusterbyFreq synonymousAAla [A]3364
contig referenceGAla [A]3364
997163581708 rs762483659 0.000byFreq missenseTVal [V]2364
contig referenceCAla [A]2364
997163691697 rs768095459 0.000byFreq synonymousCLeu [L]3360
contig referenceGLeu [L]3360
997163701695 rs1180613095 N.D. frame shift-Ala [A]1360
contig referenceCTLeu [L]1360
997163731693 rs1479946370 N.D. missenseTIle [I]2359
contig referenceCThr [T]2359
997163791687 rs774035339 0.000 missenseTVal [V]2357
contig referenceCAla [A]2357
997163811685 rs761431331 0.000byFreq synonymousCAla [A]3356
synonymousGAla [A]3356
contig referenceAAla [A]3356
997163851681 rs750250139 0.000 missenseCThr [T]2355
contig referenceTMet [M]2355
997163881678 rs760634059 0.000 missenseGArg [R]2354
contig referenceALys [K]2354
997163931673 rs766440242 0.000 synonymousAArg [R]3352
contig referenceGArg [R]3352
997163951671 rs577625748 0.000byFreqWith1000GenomeData0.0002 synonymousCArg [R]1352
contig referenceAArg [R]1352
997163951671 rs1441215745 N.D. frame shift-Gly [G]1352
contig referenceAArg [R]1352
997163981668 rs544549493 0.000byFreqWith1000GenomeData0.0004 missenseGGly [G]1351
contig referenceAArg [R]1351
997164001666 rs765281352 0.000 missenseGArg [R]2350
contig referenceCPro [P]2350
997164041662 rs912089181 N.D. missenseTPhe [F]1349
contig referenceCLeu [L]1349
997164071659 rs1333836850 N.D. missenseGAla [A]1348
contig referenceCPro [P]1348
997164091657 rs144580290 0.002byClusterbyFreqWith1000GenomeData0.0012 missenseCThr [T]2347
contig referenceTIle [I]2347
997164101656 rs766283832 0.000byFreq frame shift-Phe [F]1347
contig referenceAIle [I]1347
997164151651 rs752947693 0.000 missenseAGln [Q]2345
contig referenceGArg [R]2345
997164161650 rs780739691 0.000byFreq missenseGGly [G]1345
missenseTTrp [W]1345
contig referenceCArg [R]1345
997164201646 rs757725009 0.000 synonymousALeu [L]3343
synonymousTLeu [L]3343
contig referenceCLeu [L]3343
997164231643 rs147724430 0.002byClusterbyFreqWith1000GenomeData0.0022 synonymousTPhe [F]3342
contig referenceCPhe [F]3342
997164281638 rs746427102 0.000byFreq missenseCHis [H]1341
contig referenceTTyr [Y]1341
997164301636 rs768203179 0.000 missenseCPro [P]2340
contig referenceTLeu [L]2340
997164311635 rs1417416455 N.D. missenseGVal [V]1340
contig referenceCLeu [L]1340
997164321634 rs1266225475 N.D. synonymousAVal [V]3339
contig referenceGVal [V]3339
997164331633 rs7084118 N.D.byCluster missenseCAla [A]2339
contig referenceTVal [V]2339
997164341632 rs141830307 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAMet [M]1339
contig referenceGVal [V]1339
997164351631 rs1345558563 N.D. synonymousGThr [T]3338
contig referenceAThr [T]3338
997164371629 rs1253479175 N.D. missenseGAla [A]1338
contig referenceAThr [T]1338
997164381628 rs1190667243 N.D. synonymousCIle [I]3337
contig referenceTIle [I]3337
997164391627 rs147109253 0.000byCluster missenseGSer [S]2337
contig referenceTIle [I]2337
997164461620 rs1256137282 N.D. missenseGAla [A]1335
contig referenceAThr [T]1335
997164491617 rs771639452 0.000byFreq missenseTPhe [F]1334
contig referenceGVal [V]1334
997164501616 rs1489030252 N.D. synonymousGSer [S]3333
contig referenceASer [S]3333
997164541612 rs960401721 N.D. missenseTIle [I]2332
contig referenceCThr [T]2332
997183531597 rs199761049 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2327
contig referenceGArg [R]2327
997183541596 rs200799839 0.002byCluster missenseTTrp [W]1327
synonymousAArg [R]1327
contig referenceCArg [R]1327
997183551595 rs778430759 0.000 synonymousTHis [H]3326
contig referenceCHis [H]3326
997183571593 rs1328413218 N.D. missenseAAsn [N]1326
contig referenceCHis [H]1326
997183641586 rs747635630 0.000 missenseCHis [H]3323
contig referenceGGln [Q]3323
997183671583 rs943225228 N.D. synonymousAVal [V]3322
contig referenceGVal [V]3322
997183681582 rs771713734 0.000byFreq missenseCAla [A]2322
contig referenceTVal [V]2322
997183701580 rs767132989 N.D. missenseAIle [I]3321
contig referenceGMet [M]3321
997183741576 rs868750750 N.D.byCluster missenseTIle [I]2320
contig referenceCThr [T]2320
997183971553 rs772966397 0.000 synonymousALeu [L]3312
contig referenceGLeu [L]3312
997183981552 rs749956010 N.D. missenseCPro [P]2312
contig referenceTLeu [L]2312
997184001550 rs556026559 0.000byClusterbyFreq missenseGMet [M]3311
contig referenceCIle [I]3311
997184031547 rs1336854379 N.D. synonymousTPro [P]3310
contig referenceCPro [P]3310
997184041546 rs138293000 0.001byClusterbyFreq missenseGArg [R]2310
missenseTLeu [L]2310
contig referenceCPro [P]2310
997184051545 rs1449076408 N.D. missenseTSer [S]1310
contig referenceCPro [P]1310
997184071543 rs1278838654 N.D. missenseTPhe [F]2309
contig referenceCSer [S]2309
997184131537 rs1462060157 N.D. missenseTIle [I]2307
contig referenceCThr [T]2307
997184171533 rs759448528 0.000 missenseCLeu [L]1306
contig referenceTPhe [F]1306
997184201530 rs149189968 0.000byClusterbyFreq missenseTPhe [F]1305
contig referenceCLeu [L]1305
997184211529 rs775588575 0.000 missenseAGlu [E]3304
contig referenceCAsp [D]3304
997184271523 rs143079914 0.000byClusterbyFreq synonymousAPro [P]3302
synonymousTPro [P]3302
contig referenceGPro [P]3302
997184281522 rs764210757 0.000 missenseTLeu [L]2302
contig referenceCPro [P]2302
997184351515 rs751770585 0.000 missenseCArg [R]1300
contig referenceTTrp [W]1300
997184371513 rs1167592439 N.D. missenseTPhe [F]2299
contig referenceCSer [S]2299
997184431507 rs1403121039 N.D. missenseAGlu [E]2297
contig referenceGGly [G]2297
997184471503 rs762093394 0.000 missenseGVal [V]1296
contig referenceAMet [M]1296
997184501500 rs767803066 0.000 missenseCGln [Q]1295
contig referenceALys [K]1295
997184511499 rs1207329794 N.D. synonymousAPro [P]3294
contig referenceCPro [P]3294
997184531497 rs1405066159 N.D. missenseTSer [S]1294
contig referenceCPro [P]1294
997184581492 rs1435785216 N.D. missenseTPhe [F]2292
contig referenceCSer [S]2292
997184641486 rs1297595563 N.D. missenseTPhe [F]2290
contig referenceATyr [Y]2290
997184681482 rs1266698062 N.D. missenseTPhe [F]1289
contig referenceGVal [V]1289
997184691481 rs1324201535 N.D. synonymousGLeu [L]3288
contig referenceTLeu [L]3288
997184731477 rs1042351547 N.D. missenseTVal [V]2287
contig referenceGGly [G]2287
997184781472 rs1225993479 N.D. synonymousCAsp [D]3285
contig referenceTAsp [D]3285
997184801470 rs1275083002 N.D. missenseCHis [H]1285
contig referenceGAsp [D]1285
997184811469 rs750767017 0.000 synonymousGLeu [L]3284
contig referenceALeu [L]3284
997184811467 rs868407468 N.D.byCluster -1284
997184831467 rs756596418 0.004byFreq missenseGVal [V]1284
synonymousTLeu [L]1284
contig referenceCLeu [L]1284
997184841466 rs780459336 0.000 synonymousAGly [G]3283
contig referenceGGly [G]3283
997184921458 rs201703572 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1281
missenseTLeu [L]1281
contig referenceGVal [V]1281
997184971453 rs757958579 0.000 missenseGGly [G]2279
contig referenceCAla [A]2279
997184971452 rs1445714651 N.D. frame shiftGGly [G]1279
contig reference-Ala [A]1279
997184981452 rs777482119 0.000 missenseAThr [T]1279
contig referenceGAla [A]1279
997209881448 rs1163753828 N.D. synonymousCSer [S]3277
contig referenceASer [S]3277
997209931443 rs756918667 0.000 missenseGVal [V]1276
contig referenceCLeu [L]1276
997209971439 rs955506347 N.D. synonymousAThr [T]3274
contig referenceGThr [T]3274
997209981438 rs780737398 0.000byFreq missenseTMet [M]2274
contig referenceCThr [T]2274
997210001436 rs757975752 0.000byFreq frame shift-Arg [R]3274
contig referenceTThr [T]3274
997210011435 rs745586254 0.000 missenseAHis [H]2273
contig referenceTLeu [L]2273
997210021434 rs1302173952 N.D. missenseTPhe [F]1273
contig referenceCLeu [L]1273
997210061430 rs769466771 0.000 synonymousAVal [V]3271
contig referenceGVal [V]3271
997210191417 rs779970384 0.000 missenseTIle [I]2267
contig referenceCThr [T]2267
997210241412 rs1392338923 N.D. synonymousCHis [H]3265
contig referenceTHis [H]3265
997210251411 rs200876059 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2265
contig referenceAHis [H]2265
997210311405 rs1334326501 N.D. missenseCSer [S]2263
contig referenceTPhe [F]2263
997210341402 rs148208957 0.000byClusterbyFreq missenseAGln [Q]2262
contig referenceGArg [R]2262
997210351401 rs774366079 0.000byFreq nonsenseT1262
synonymousAArg [R]1262
contig referenceCArg [R]1262
997210371399 rs141546442 0.000byClusterbyFreq missenseALys [K]2261
contig referenceGArg [R]2261
997210451391 rs1238668935 N.D. synonymousGLeu [L]3258
contig referenceALeu [L]3258
997210501386 rs1280328978 N.D. missenseTPhe [F]1257
contig referenceCLeu [L]1257
997210511385 rs1220271236 N.D. missenseTHis [H]3256
synonymousGGln [Q]3256
contig referenceAGln [Q]3256
997210541382 rs773282140 0.000 synonymousTHis [H]3255
contig referenceCHis [H]3255
997210551381 rs761014065 0.000byFreq missenseTLeu [L]2255
contig referenceAHis [H]2255
997210571379 rs367938241 0.000byClusterbyFreq synonymousGThr [T]3254
synonymousTThr [T]3254
contig referenceCThr [T]3254
997210671369 rs1248212831 N.D. nonsenseA2251
contig referenceTLeu [L]2251
997239591364 rs748131433 0.000byFreq synonymousTHis [H]3249
contig referenceCHis [H]3249
997239621361 rs75208218 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAPro [P]3248
synonymousTPro [P]3248
contig referenceGPro [P]3248
997239631360 rs372256836 0.000byCluster missenseTLeu [L]2248
contig referenceCPro [P]2248
997239641359 rs183558471 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGAla [A]1248
contig referenceCPro [P]1248
997239681355 rs572833889 0.000byFreqWith1000GenomeData0.0002 synonymousTLeu [L]3246
contig referenceCLeu [L]3246
997239741349 rs760006959 0.000 synonymousCLeu [L]3244
contig referenceGLeu [L]3244
997239761347 rs765735387 0.000byFreq missenseGVal [V]1244
synonymousTLeu [L]1244
contig referenceCLeu [L]1244
997239801343 rs1216358149 N.D. synonymousCLeu [L]3242
contig referenceGLeu [L]3242
997239831340 rs1293720240 N.D. synonymousGSer [S]3241
contig referenceASer [S]3241
997239921331 rs776129540 0.000byFreq synonymousALeu [L]3238
contig referenceGLeu [L]3238
997239951328 rs1224352719 N.D. synonymousTSer [S]3237
contig referenceCSer [S]3237
997239961327 rs1264837625 N.D. missenseAAsn [N]2237
contig referenceGSer [S]2237
997239991324 rs763624363 0.000 missenseTVal [V]2236
contig referenceCAla [A]2236
997240041319 rs1341955054 N.D. synonymousCTyr [Y]3234
contig referenceTTyr [Y]3234
997240061314 rs1278498852 N.D. frame shift-Ile [I]1233
contig referenceCTTTLeu [L]1233
997240091314 rs766874720 0.000 missenseGVal [V]1233
contig referenceCLeu [L]1233
997240101313 rs375541003 0.000byClusterbyFreq synonymousGVal [V]3232
contig referenceTVal [V]3232
997240121311 rs1486568974 N.D. missenseAIle [I]1232
contig referenceGVal [V]1232
997240131310 rs1042238551 N.D. synonymousCLeu [L]3231
contig referenceGLeu [L]3231
997240161307 rs1325365833 N.D. synonymousTAla [A]3230
contig referenceCAla [A]3230
997240201303 rs201002908 0.000byClusterbyFreq nonsenseA2229
contig referenceCSer [S]2229
997240231300 rs1480591433 N.D. missenseCAla [A]2228
contig referenceGGly [G]2228
997240281295 rs1390013110 N.D. synonymousTHis [H]3226
contig referenceCHis [H]3226
997240301293 rs1178112885 N.D. missenseAAsn [N]1226
contig referenceCHis [H]1226
997240331290 rs766088575 0.000 missenseAThr [T]1225
contig referenceGAla [A]1225
997240361287 rs753531215 0.000 missenseAThr [T]1224
contig referenceGAla [A]1224
997240381285 rs1176009509 N.D. missenseAHis [H]2223
contig referenceTLeu [L]2223
997240401283 rs754746745 0.000 synonymousTArg [R]3222
contig referenceCArg [R]3222
997240411282 rs377568460 0.000byClusterbyFreq missenseAHis [H]2222
contig referenceGArg [R]2222
997240421281 rs2231682 0.001byClusterbyFreqWith1000GenomeData0.0014 missenseTCys [C]1222
contig referenceCArg [R]1222
997240461277 rs1470928664 N.D. missenseCHis [H]3220
contig referenceGGln [Q]3220
997240481275 rs777656755 0.000 nonsenseT1220
contig referenceCGln [Q]1220
997240531270 rs1425996711 N.D. missenseCAla [A]2218
contig referenceTVal [V]2218
997240591264 rs369867697 0.000byClusterbyFreq missenseTLeu [L]2216
contig referenceCPro [P]2216
997240601263 rs1321178770 N.D. missenseTSer [S]1216
contig referenceCPro [P]1216
997240651258 rs1240735440 N.D. missenseCAla [A]2214
contig referenceAAsp [D]2214
997240661257 rs1222613594 N.D. missenseAAsn [N]1214
contig referenceGAsp [D]1214
997240681255 rs1284875664 N.D. missenseTLeu [L]2213
contig referenceAHis [H]2213
997240691254 rs776960690 0.000byFreq missenseGAsp [D]1213
missenseTTyr [Y]1213
contig referenceCHis [H]1213
997240711252 rs1289837459 N.D. missenseGCys [C]2212
contig referenceCSer [S]2212
997240811242 rs1428335084 N.D. missenseGGlu [E]1209
contig referenceALys [K]1209
997240881235 rs746153360 0.000 synonymousGLeu [L]3206
contig referenceALeu [L]3206
997240891234 rs943723071 N.D. missenseCPro [P]2206
contig referenceTLeu [L]2206
997240921231 rs1490362485 N.D. missenseAGlu [E]2205
contig referenceGGly [G]2205
997240941229 rs770279579 0.000 missenseAArg [R]3204
synonymousCSer [S]3204
contig referenceTSer [S]3204
997240971226 rs776002673 0.000 missenseCAsn [N]3203
contig referenceALys [K]3203
997241031220 rs1479671154 N.D. missenseAIle [I]3201
contig referenceGMet [M]3201
997241041219 rs763311029 0.000 missenseCThr [T]2201
contig referenceTMet [M]2201
997241091214 rs1178475987 N.D. nonsenseA3199
contig referenceGTrp [W]3199
997269711196 rs749901020 N.D. missenseGLeu [L]3193
contig referenceCPhe [F]3193
997269751192 rs1176006577 N.D. missenseCSer [S]2192
contig referenceGCys [C]2192
997269761191 rs780518170 0.000 missenseCArg [R]1192
contig referenceTCys [C]1192
997269791188 rs187284527 0.000byClusterWith1000GenomeData0.0002 missenseAIle [I]1191
contig referenceGVal [V]1191
997269801187 rs201315984 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTLeu [L]3190
contig referenceCLeu [L]3190
997269871180 rs1165621398 N.D. frame shift-Leu [L]2188
contig referenceGCys [C]2188
997269871179 rs1363770996 N.D. frame shiftCTCTSer [S]1188
contig reference-Cys [C]1188
997269891178 rs1405036853 N.D. synonymousTLeu [L]3187
contig referenceCLeu [L]3187
997269901176 rs1329751426 N.D. frame shiftCPro [P]1187
contig reference-Leu [L]1187
997269921175 rs768945635 0.000byFreq synonymousTAla [A]3186
contig referenceCAla [A]3186
997269961171 rs1283117818 N.D. missenseAHis [H]2185
contig referenceTLeu [L]2185
997269971170 rs1251650006 N.D. missenseTPhe [F]1185
contig referenceCLeu [L]1185
997270031164 rs371107669 0.000byClusterbyFreq missenseTCys [C]1183
contig referenceCArg [R]1183
997270061161 rs374251363 0.000byClusterbyFreq missenseCArg [R]1182
contig referenceGGly [G]1182
997270091158 rs776119793 0.000byFreq missenseGGlu [E]1181
contig referenceALys [K]1181
997270131154 rs1312353409 N.D. synonymousTGly [G]3179
contig referenceCGly [G]3179
997270171150 rs146028099 0.000byClusterWith1000GenomeData0.0002 missenseAHis [H]2178
missenseCPro [P]2178
contig referenceGArg [R]2178
997270181149 rs192078749 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTCys [C]1178
contig referenceCArg [R]1178
997270221145 rs752393612 0.000 synonymousTLeu [L]3176
contig referenceCLeu [L]3176
997270261141 rs762777367 0.000 nonsenseA2175
contig referenceGTrp [W]2175
997270301137 rs763842058 0.000byFreq missenseASer [S]1174
contig referenceGGly [G]1174
997270351132 rs751512832 0.000 missenseALys [K]2172
contig referenceGArg [R]2172
997270371130 rs757148138 0.000 missenseTCys [C]3171
contig referenceGTrp [W]3171
997270381129 rs781364399 0.000 nonsenseA2171
contig referenceGTrp [W]2171
997270391128 rs750552974 0.000 missenseGGly [G]1171
contig referenceTTrp [W]1171
997270431124 rs756368998 0.000 nonsenseG3169
contig referenceCTyr [Y]3169
997270441123 rs201881501 0.000byCluster missenseGCys [C]2169
contig referenceATyr [Y]2169
997270511116 rs1421847943 N.D. missenseAThr [T]1167
missenseCPro [P]1167
missenseTSer [S]1167
contig referenceGAla [A]1167
997270541113 rs1250538241 N.D. missenseTSer [S]1166
contig referenceCPro [P]1166
997270571110 rs1465632486 N.D. synonymousTLeu [L]1165
contig referenceCLeu [L]1165
997270601107 rs749525116 0.000 missenseCLeu [L]1164
contig referenceAIle [I]1164
997270631104 rs1408008079 N.D. missenseGAsp [D]1163
contig referenceTTyr [Y]1163
997270641102 rs1330508309 N.D. frame shiftTVal [V]2163
contig reference-Tyr [Y]2163
997270701097 rs1406526618 N.D. synonymousTGly [G]3160
contig referenceCGly [G]3160
997270711096 rs1439266052 N.D. missenseAAsp [D]2160
contig referenceGGly [G]2160
997270731094 rs1454560727 N.D. synonymousGVal [V]3159
contig referenceAVal [V]3159
997270761091 rs148525464 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousCLeu [L]3158
synonymousGLeu [L]3158
contig referenceTLeu [L]3158
997270771090 rs536753198 N.D. missenseAHis [H]2158
contig referenceTLeu [L]2158
997270791087 rs956997362 N.D. frame shiftGTCGSer [S]2158
contig reference-Leu [L]2158
997270801087 rs1227446490 N.D. missenseAHis [H]2157
contig referenceGArg [R]2157
997270811086 rs988250515 N.D. missenseTCys [C]1157
contig referenceCArg [R]1157
997270831084 rs779209725 0.000 missenseAAsp [D]2156
contig referenceGGly [G]2156
997270851082 rs748619413 0.000byFreq missenseTCys [C]3155
contig referenceGTrp [W]3155
997270881079 rs1257870168 N.D. missenseAIle [I]3154
contig referenceGMet [M]3154
997270921075 rs1462019991 N.D. missenseAGln [Q]2153
contig referenceGArg [R]2153
997270931074 rs772578318 0.000 nonsenseT1153
synonymousAArg [R]1153
contig referenceCArg [R]1153
997270941073 rs776066477 0.000 missenseGGln [Q]3152
contig referenceCHis [H]3152
997270981069 rs149718203 0.000byClusterbyFreq nonsenseG2151
contig referenceCSer [S]2151
997271061061 rs769333046 0.000 missenseAIle [I]3148
contig referenceGMet [M]3148
997271071060 rs775185272 0.000byFreq missenseCThr [T]2148
contig referenceTMet [M]2148
997271081059 rs372239851 0.000byClusterbyFreq missenseCLeu [L]1148
missenseGVal [V]1148
contig referenceAMet [M]1148
997271101057 rs1170211875 N.D. missenseGCys [C]2147
contig referenceATyr [Y]2147
997271121055 rs774032039 0.000 missenseTCys [C]3146
contig referenceGTrp [W]3146
997271141053 rs1470811578 N.D. missenseGGly [G]1146
contig referenceTTrp [W]1146
997271191048 rs761793891 0.000 missenseGCys [C]2144
contig referenceTPhe [F]2144
997271201047 rs767594997 0.000 missenseCLeu [L]1144
contig referenceTPhe [F]1144
997271221045 rs1382705783 N.D. missenseTMet [M]2143
contig referenceALys [K]2143
997271341033 rs1319785455 N.D. missenseCPro [P]2139
contig referenceTLeu [L]2139
997271371030 rs750430210 0.000 missenseTIle [I]2138
contig referenceCThr [T]2138
997271391028 rs999570268 N.D. missenseAIle [I]3137
contig referenceGMet [M]3137
997271401027 rs1421418558 N.D. missenseCThr [T]2137
contig referenceTMet [M]2137
997271421023 rs1286202984 N.D. -1136
997271431024 rs539999248 0.000With1000GenomeData0.0002 missenseTVal [V]2136
contig referenceAAsp [D]2136
997271441023 rs766429756 0.001byFreq missenseCHis [H]1136
contig referenceGAsp [D]1136
997271461021 rs144306252 0.000byCluster missenseTLeu [L]2135
contig referenceAHis [H]2135
997271471020 rs755157008 0.000byFreq missenseTTyr [Y]1135
contig referenceCHis [H]1135
997271491018 rs779276164 0.000 missenseCThr [T]2134
contig referenceAAsn [N]2134
997271511016 rs148739256 0.000 missenseCPhe [F]3133
contig referenceGLeu [L]3133
997271541013 rs748479780 0.000 missenseGMet [M]3132
synonymousAIle [I]3132
contig referenceCIle [I]3132
997274421011 rs1385482253 N.D. missenseGVal [V]1132
contig referenceAIle [I]1132
997274481004 rs36003328 N.D. frame shiftT3131
contig reference-Lys [K]3131
997274501003 rs752956494 0.000 missenseCAla [A]2129
contig referenceAGlu [E]2129
99727458995 rs371186222 0.000byCluster synonymousGGln [Q]3126
contig referenceAGln [Q]3126
99727461992 rs1438548865 N.D. missenseTHis [H]3125
contig referenceGGln [Q]3125
99727464989 rs1163745614 N.D. nonsenseA3124
contig referenceCTyr [Y]3124
99727467986 rs1169794893 N.D. synonymousGArg [R]3123
contig referenceAArg [R]3123
99727470983 rs572176730 0.000byFreqWith1000GenomeData0.0002 synonymousGGln [Q]3122
contig referenceAGln [Q]3122
99727478975 rs1429730894 N.D. missenseALys [K]1120
contig referenceGGlu [E]1120
99727480972 rs1387776728 N.D. AAGGlu [E]1118
99727481972 rs926337794 N.D. missenseAThr [T]1119
contig referenceGAla [A]1119
99727494959 rs1422420766 N.D. synonymousGGln [Q]3114
contig referenceAGln [Q]3114
99727498955 rs374948144 0.000byCluster missenseAAsn [N]2113
contig referenceGSer [S]2113
99727501952 rs757776417 0.000byFreq missenseTIle [I]2112
contig referenceCThr [T]2112
99727504949 rs779569325 0.000byFreq missenseGArg [R]2111
contig referenceCPro [P]2111
99727507946 rs144644373 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseTLeu [L]2110
contig referenceCPro [P]2110
99727523930 rs768252509 0.000 missenseGVal [V]1105
contig referenceAIle [I]1105
99727530923 rs1051639302 N.D. missenseTCys [C]3102
contig referenceGTrp [W]3102
99727531922 rs778412019 0.000byClusterbyFreq nonsenseA2102
contig referenceGTrp [W]2102
99727532921 rs1204333986 N.D. missenseGGly [G]1102
contig referenceTTrp [W]1102
99727533920 rs747870702 0.000 synonymousCAsp [D]3101
contig referenceTAsp [D]3101
99727543910 rs1315877896 N.D. nonsenseA298
missenseTLeu [L]298
contig referenceCSer [S]298
99727545908 rs890386306 N.D. synonymousGLeu [L]397
contig referenceCLeu [L]397
99727546907 rs1345926308 N.D. missenseCPro [P]297
contig referenceTLeu [L]297
99727549904 rs771992107 0.000 missenseTVal [V]296
contig referenceGGly [G]296
99727552901 rs773148163 0.000byFreq missenseGCys [C]295
contig referenceCSer [S]295
99727554898 rs748468371 0.000 frame shift-Val [V]294
contig referenceAGGlu [E]294
99727554899 rs760630037 0.000 synonymousAGlu [E]394
contig referenceGGlu [E]394
99727562891 rs770793418 0.000 missenseAMet [M]192
synonymousCLeu [L]192
contig referenceTLeu [L]192
99729556886 rs1315870511 N.D. missenseGSer [S]290
contig referenceCThr [T]290
99729558884 rs1245490798 N.D. synonymousGVal [V]389
contig referenceAVal [V]389
99729559883 rs773110411 0.000 frame shift-Glu [E]289
contig referenceTVal [V]289
99729566876 rs974203993 N.D. missenseASer [S]187
contig referenceGGly [G]187
99729570872 rs147881961 0.000byClusterbyFreq synonymousCIle [I]385
contig referenceTIle [I]385
99729572870 rs1421966236 N.D. missenseCLeu [L]185
contig referenceAIle [I]185
99729574868 rs770796185 0.000 missenseCAla [A]284
contig referenceTVal [V]284
99729575867 rs776410176 0.000 missenseAIle [I]184
contig referenceGVal [V]184
99729577865 rs759575566 0.000byFreq missenseGGly [G]283
contig referenceCAla [A]283
99729579863 rs769756323 0.002byClusterbyFreq synonymousGGly [G]382
contig referenceAGly [G]382
99729580862 rs1322917850 N.D. missenseAGlu [E]282
contig referenceGGly [G]282
99729583859 rs1361337217 N.D. missenseTVal [V]281
contig referenceCAla [A]281
99729594848 rs1383133523 N.D. synonymousCSer [S]377
contig referenceTSer [S]377
99729595847 rs1384805044 N.D. missenseCThr [T]277
contig referenceGSer [S]277
99729600842 rs1366449013 N.D. synonymousGVal [V]375
contig referenceCVal [V]375
99729605837 rs1446454487 N.D. synonymousTLeu [L]174
contig referenceCLeu [L]174
99729606836 rs561419279 0.000byFreqWith1000GenomeData0.0002 synonymousGLeu [L]373
synonymousTLeu [L]373
contig referenceCLeu [L]373
99729611831 rs764333379 0.000 missenseCArg [R]172
contig referenceTTrp [W]172
99729613829 rs991351276 N.D. missenseAGln [Q]271
contig referenceGArg [R]271
99729614828 rs751819645 0.000byFreq nonsenseT171
contig referenceCArg [R]171
99729623819 rs866847158 N.D.byCluster missenseAMet [M]168
missenseTLeu [L]168
contig referenceGVal [V]168
99729625817 rs377441431 0.000byClusterbyFreq missenseAGln [Q]267
missenseCPro [P]267
contig referenceGArg [R]267
99729626816 rs779258920 0.000byFreq missenseTTrp [W]167
contig referenceCArg [R]167
99729629813 rs750893722 0.000byFreq missenseALys [K]166
contig referenceGGlu [E]166
99729631811 rs1384688526 N.D. missenseTVal [V]265
contig referenceCAla [A]265
99729632810 rs368808113 0.000byCluster missenseAThr [T]165
missenseTSer [S]165
contig referenceGAla [A]165
99729635807 rs1310426859 N.D. missenseTSer [S]164
contig referenceGAla [A]164
99729636806 rs764785567 0.000 synonymousALys [K]363
contig referenceGLys [K]363
99729645797 rs1442345718 N.D. synonymousCLeu [L]360
contig referenceTLeu [L]360
99729647795 rs752274391 0.000byFreq missenseTPhe [F]160
contig referenceCLeu [L]160
99729648794 rs1383322913 N.D. synonymousTSer [S]359
contig referenceCSer [S]359
99729654788 rs758081353 0.000byFreq synonymousGThr [T]357
contig referenceAThr [T]357
99729661781 rs777532861 0.000byFreq missenseALys [K]255
contig referenceGArg [R]255
99729662780 rs746720704 0.000 missenseGGly [G]155
contig referenceAArg [R]155
99729663779 rs756988711 0.000 synonymousGGly [G]354
contig referenceAGly [G]354
99729664778 rs781108007 0.000byFreq missenseAGlu [E]254
contig referenceGGly [G]254
99729665777 rs769782326 0.000 missenseAArg [R]154
contig referenceGGly [G]154
99729666776 rs775510271 0.000 synonymousCSer [S]353
contig referenceTSer [S]353
99729667775 rs749336744 0.000 missenseTPhe [F]253
contig referenceCSer [S]253
99729674768 rs768773157 0.000 missenseGVal [V]151
contig referenceTLeu [L]151
99729680762 rs1421542405 N.D. missenseAIle [I]149
contig referenceGVal [V]149
99729690752 rs373219878 0.000byClusterbyFreq synonymousTThr [T]345
contig referenceCThr [T]345
99729693749 rs762166225 0.000 missenseAArg [R]344
contig referenceCSer [S]344
99729694748 rs141506146 0.001byClusterbyFreq missenseAAsn [N]244
missenseCThr [T]244
contig referenceGSer [S]244
99729696746 rs1276445985 N.D. synonymousTTyr [Y]343
contig referenceCTyr [Y]343
99729698744 rs1365182371 N.D. missenseAAsn [N]143
contig referenceTTyr [Y]143
99729699743 rs773642414 0.000 synonymousGGln [Q]342
contig referenceAGln [Q]342
99729703739 rs761035049 0.000 missenseAGlu [E]241
contig referenceGGly [G]241
99729708734 rs767022607 0.000byFreq synonymousAArg [R]339
contig referenceGArg [R]339
99729710732 rs145667552 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousCArg [R]139
contig referenceAArg [R]139
99729713729 rs1485407116 N.D. synonymousCLeu [L]138
contig referenceTLeu [L]138
99729715727 rs757956450 0.000 missenseTLeu [L]237
contig referenceCPro [P]237
99729718724 rs763754710 0.000byFreq missenseAHis [H]236
contig referenceGArg [R]236
99729719723 rs151116399 0.000byClusterbyFreq missenseTCys [C]136
contig referenceCArg [R]136
99729723719 rs756936723 0.000byCluster synonymousTIle [I]334
contig referenceCIle [I]334
99729726716 rs780790755 0.000 synonymousTCys [C]333
contig referenceCCys [C]333
99729732710 rs1191150600 N.D. synonymousCCys [C]331
contig referenceTCys [C]331
99731963704 rs1320398643 N.D. synonymousGAla [A]329
contig referenceAAla [A]329
99731964703 rs1197322688 N.D. missenseTVal [V]229
contig referenceCAla [A]229
99731966701 rs370595065 0.000byClusterbyFreq synonymousGArg [R]328
contig referenceAArg [R]328
99731967700 rs141066870 0.000byClusterbyFreq missenseCThr [T]228
contig referenceGArg [R]228
99731968699 rs888163578 N.D. nonsenseT128
contig referenceAArg [R]128
99731970697 rs577362342 0.000With1000GenomeData0.0002 missenseGArg [R]227
missenseTLeu [L]227
contig referenceCPro [P]227
99731972695 rs375302709 0.000byCluster synonymousAAla [A]326
synonymousTAla [A]326
contig referenceGAla [A]326
99731977690 rs747288608 0.001byFreq missenseTSer [S]125
contig referenceGAla [A]125
99731978689 rs150241705 0.000 missenseTSer [S]324
contig referenceGArg [R]324
99731982685 rs771417676 0.000 missenseAHis [H]223
contig referenceCPro [P]223
99731983684 rs1168680698 N.D. missenseTSer [S]123
contig referenceCPro [P]123
99731989678 rs1425549542 N.D. synonymousTLeu [L]121
contig referenceCLeu [L]121
99731990677 rs1292679422 N.D. synonymousTLeu [L]320
contig referenceCLeu [L]320
99731991676 rs777140358 0.000 missenseAHis [H]220
missenseCPro [P]220
contig referenceTLeu [L]220
99731992675 rs760060048 0.000byFreq missenseTPhe [F]120
contig referenceCLeu [L]120
99731994673 rs770354567 0.000 missenseTLeu [L]219
contig referenceCPro [P]219
99731995672 rs145528678 0.000byClusterbyFreq missenseAThr [T]119
missenseTSer [S]119
contig referenceCPro [P]119
99731999667 rs1331697909 N.D. frame shiftA217
contig reference-Tyr [Y]217
99732000667 rs761365669 0.001byFreq missenseGCys [C]217
contig referenceATyr [Y]217
99732003664 rs766993411 0.000byFreq missenseGArg [R]216
contig referenceAGln [Q]216
99732005662 rs1452461124 N.D. synonymousAArg [R]315
contig referenceGArg [R]315
99732012655 rs1279641167 N.D. missenseGArg [R]213
contig referenceALys [K]213
99732014653 rs750087100 0.000 missenseCPhe [F]312
contig referenceGLeu [L]312
99732015652 rs760328705 0.000 missenseCSer [S]212
contig referenceTLeu [L]212
99732019648 rs766109479 0.000byFreq missenseAThr [T]111
contig referenceGAla [A]111
99732020647 rs1346398930 N.D. synonymousAArg [R]310
contig referenceGArg [R]310
99732022645 rs1202678199 N.D. synonymousCArg [R]110
contig referenceAArg [R]110
99732026641 rs753657789 0.000 synonymousTPro [P]38
contig referenceGPro [P]38
99732027640 rs754873226 0.000 missenseTLeu [L]28
contig referenceCPro [P]28
99732028639 rs544350137 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]18
contig referenceCPro [P]18
99732032635 rs1265537355 N.D. synonymousCPhe [F]36
contig referenceTPhe [F]36
99732034633 rs1476721317 N.D. missenseCLeu [L]16
contig referenceTPhe [F]16
99732035632 rs1192760171 N.D. synonymousTLeu [L]35
contig referenceCLeu [L]35
99732036631 rs752622147 0.000byFreq missenseCPro [P]25
contig referenceTLeu [L]25
99732037630 rs1467569471 N.D. missenseTPhe [F]15
contig referenceCLeu [L]15
99732038629 rs965049562 N.D. missenseCPhe [F]34
contig referenceGLeu [L]34
99732040627 rs997884957 N.D. synonymousCLeu [L]14
contig referenceTLeu [L]14
99732045622 rs758489454 0.000 missenseGArg [R]22
contig referenceAGln [Q]22
99732048619 rs1020211493 N.D. missenseGArg [R]21
contig referenceTMet [M]21