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dbSNP

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SNP linked to Gene (geneID:127833) 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): 8
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017000313.1minus strandXP_016855802.1reverseNT_004487.20GRCh38.p7<- currently shown
XM_017000312.1minus strandXP_016855801.1reverseNT_004487.20GRCh38.p7View snp on GeneModel
XM_017000311.1minus strandXP_016855800.1reverseNT_004487.20GRCh38.p7View snp on GeneModel
XM_017000310.1minus strandXP_016855799.1reverseNT_004487.20GRCh38.p7View snp on GeneModel
XM_017000309.1minus strandXP_016855798.1reverseNT_004487.20GRCh38.p7View snp on GeneModel
XM_011509192.2minus strandXP_011507494.1reverseNT_004487.20GRCh38.p7View snp on GeneModel
NM_177402.4minus strandNP_796376.2reverseNT_004487.20GRCh38.p7View snp on GeneModel
NM_001136504.1minus strandNP_001129976.1reverseNT_004487.20GRCh38.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_004487.20XM_017000313.1XP_016855802.1reverseminus strand331, 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
2025967631437 rs200149183 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGLys [K]3418
synonymousTAsn [N]3418
contig referenceCAsn [N]3418
2025967661434 rs1406344735 N.D. synonymousALys [K]3417
contig referenceGLys [K]3417
2025967691431 rs1424331264 N.D. synonymousTGly [G]3416
contig referenceCGly [G]3416
2025967721428 rs1161478788 N.D. synonymousALeu [L]3415
contig referenceGLeu [L]3415
2025967751425 rs777502238 0.000 synonymousTLeu [L]3414
contig referenceCLeu [L]3414
2025967771423 rs751252457 0.000 missenseAIle [I]1414
contig referenceCLeu [L]1414
2025967791421 rs142804180 0.000byClusterbyFreq YesmissenseTVal [V]2413
contig referenceCAla [A]2413
2025967831417 rs1453017252 N.D. missenseAAsn [N]1412
contig referenceGAsp [D]1412
2025967841416 rs557275115 0.000byFreqWith1000GenomeData0.0002 synonymousAVal [V]3411
contig referenceGVal [V]3411
2025967891411 rs1444299581 N.D. missenseCGln [Q]1410
contig referenceGGlu [E]1410
2025967931407 rs576826872 0.000byFreqWith1000GenomeData0.0002 synonymousAGlu [E]3408
contig referenceGGlu [E]3408
2025967941406 rs991730108 N.D. missenseCAla [A]2408
contig referenceAGlu [E]2408
2025967981402 rs769733229 0.000byFreq missenseAThr [T]1407
missenseTSer [S]1407
contig referenceCPro [P]1407
2025967991401 rs758310935 N.D. synonymousALys [K]3406
contig referenceGLys [K]3406
2025968021398 rs748198461 0.000 synonymousGLeu [L]3405
contig referenceCLeu [L]3405
2025968041396 rs369002973 0.000byCluster YesmissenseTPhe [F]1405
contig referenceCLeu [L]1405
2025968051395 rs772139994 0.000 synonymousASer [S]3404
contig referenceGSer [S]3404
2025968061394 rs1248128742 N.D. missenseTLeu [L]2404
contig referenceCSer [S]2404
2025968151385 rs773342517 0.000 missenseGArg [R]2401
contig referenceAGln [Q]2401
2025968191381 rs1195923995 N.D. missenseAThr [T]1400
contig referenceGAla [A]1400
2025968201380 rs504261 0.454byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.3079 YessynonymousTIle [I]3399
contig referenceCIle [I]3399
2025968231377 rs1456876539 N.D. synonymousTPro [P]3398
contig referenceCPro [P]3398
2025968281372 rs977820763 N.D. missenseGGly [G]1397
contig referenceAArg [R]1397
2025968301370 rs911413010 N.D. missenseAGln [Q]2396
contig referenceGArg [R]2396
2025968311369 rs771191387 0.000 missenseTTrp [W]1396
contig referenceCArg [R]1396
2025968341366 rs777022357 0.000 missenseAThr [T]1395
contig referenceCPro [P]1395
2025968431357 rs759847818 0.000byFreq synonymousTLeu [L]1392
contig referenceCLeu [L]1392
2025968491351 rs765719765 0.000byFreq missenseAAsn [N]1390
contig referenceGAsp [D]1390
2025968501350 rs373155359 0.000byClusterbyFreq YessynonymousTSer [S]3389
contig referenceCSer [S]3389
2025968521348 rs1167474252 N.D. missenseGAla [A]1389
contig referenceTSer [S]1389
2025968601340 rs1399437693 N.D. missenseAGln [Q]2386
contig referenceGArg [R]2386
2025968611339 rs763584442 0.000 missenseTTrp [W]1386
synonymousAArg [R]1386
contig referenceCArg [R]1386
2025968651335 rs1041293302 N.D. synonymousAGlu [E]3384
contig referenceGGlu [E]3384
2025968741326 rs763683640 0.000byFreq synonymousAThr [T]3381
contig referenceGThr [T]3381
2025968751325 rs377756166 0.000byClusterbyFreq YesmissenseTMet [M]2381
contig referenceCThr [T]2381
2025968821318 rs1274813045 N.D. missenseGAsp [D]1379
contig referenceAAsn [N]1379
2025968831317 rs1395040622 N.D. synonymousTSer [S]3378
contig referenceCSer [S]3378
2025968911309 rs1310108702 N.D. missenseAMet [M]1376
contig referenceGVal [V]1376
2025968921308 rs139376371 0.000byClusterbyFreq YessynonymousTPhe [F]3375
contig referenceCPhe [F]3375
2025968981302 rs531779433 N.D. missenseTAsn [N]3373
contig referenceGLys [K]3373
2025969131287 rs145534872 0.000byClusterbyFreq YessynonymousTAsn [N]3368
contig referenceCAsn [N]3368
2025969151285 rs755872338 0.000byFreq missenseGAsp [D]1368
contig referenceAAsn [N]1368
2025969221278 rs1415519316 N.D. synonymousALeu [L]3365
contig referenceGLeu [L]3365
2025969291271 rs1377687978 N.D. missenseGGly [G]2363
contig referenceAAsp [D]2363
2025969431257 rs779972467 0.000 synonymousTThr [T]3358
contig referenceCThr [T]3358
2025969441256 rs749174583 0.000 missenseAAsn [N]2358
contig referenceCThr [T]2358
2025969501250 rs1453432618 N.D. missenseCAla [A]2356
contig referenceTVal [V]2356
2025969541246 rs1167734162 N.D. missenseAIle [I]1355
contig referenceGVal [V]1355
2025969581242 rs768634109 0.000 synonymousAVal [V]3353
contig referenceCVal [V]3353
2025969601240 rs1052156962 N.D. missenseCLeu [L]1353
contig referenceGVal [V]1353
2025969631237 rs777807674 0.000byFreq missenseCGln [Q]1352
missenseGGlu [E]1352
contig referenceALys [K]1352
2025992191235 rs770104984 0.000 missenseCPro [P]2351
contig referenceAGln [Q]2351
2025992211233 rs775689575 0.000 synonymousCIle [I]3350
contig referenceTIle [I]3350
2025992291225 rs749704707 0.000 missenseALys [K]1348
contig referenceGGlu [E]1348
2025992301224 rs763009888 0.000byFreq synonymousTPhe [F]3347
contig referenceCPhe [F]3347
2025992381216 rs1003433471 N.D. missenseGVal [V]1345
contig referenceAIle [I]1345
2025992521202 rs925352212 N.D. missenseTPhe [F]2340
contig referenceCSer [S]2340
2025992541200 rs775014834 0.000byFreq synonymousAGlu [E]3339
contig referenceGGlu [E]3339
2025992561198 rs761337722 0.000 missenseALys [K]1339
contig referenceGGlu [E]1339
2025992571197 rs139519303 0.000byClusterbyFreq YessynonymousTAsn [N]3338
contig referenceCAsn [N]3338
2025992581196 rs370763889 0.000 YesmissenseGSer [S]2338
contig referenceAAsn [N]2338
2025992631191 rs1303289144 N.D. synonymousTTyr [Y]3336
contig referenceCTyr [Y]3336
2025992661188 rs1415020303 N.D. synonymousCPro [P]3335
contig referenceAPro [P]3335
2025992741180 rs772833174 0.000 synonymousTLeu [L]1333
contig referenceCLeu [L]1333
2025992771175 rs1385596079 N.D. -2331
2025992841170 rs1309551343 N.D. synonymousALys [K]3329
contig referenceGLys [K]3329
2025992851169 rs563864431 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseGArg [R]2329
contig referenceALys [K]2329
2025992891165 rs142292654 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAMet [M]1328
missenseTLeu [L]1328
contig referenceGVal [V]1328
2025992901164 rs774761571 0.000byFreq synonymousGThr [T]3327
synonymousTThr [T]3327
contig referenceCThr [T]3327
2025992921162 rs1172775351 N.D. missenseTSer [S]1327
contig referenceAThr [T]1327
2025992941160 rs1476773541 N.D. missenseTIle [I]2326
contig referenceCThr [T]2326
2025992951159 rs151217119 0.000 YesmissenseTSer [S]1326
contig referenceAThr [T]1326
2025992951157 rs759288000 0.000byFreq -2325
2025993051149 rs1188311114 N.D. synonymousALys [K]3322
contig referenceGLys [K]3322
2025993131141 rs112254314 0.003byClusterbyFreqWith1000GenomeData0.0074 YessynonymousCArg [R]1320
contig referenceAArg [R]1320
2025993201134 rs752627594 0.000 synonymousCAsn [N]3317
contig referenceTAsn [N]3317
2025993251129 rs758388021 0.000 missenseGGlu [E]1316
contig referenceCGln [Q]1316
2025993441110 rs781111468 0.000byFreq synonymousTTyr [Y]3309
contig referenceCTyr [Y]3309
2025993471107 rs746003032 0.000byFreq synonymousAPro [P]3308
contig referenceGPro [P]3308
2026003641095 rs71635588 0.500byCluster YessynonymousTGly [G]3304
contig referenceCGly [G]3304
2026003651094 rs1261368040 N.D. missenseTVal [V]2304
contig referenceGGly [G]2304
2026003661093 rs1412680209 N.D. missenseASer [S]1304
contig referenceGGly [G]1304
2026003671092 rs750425155 0.000byFreq synonymousTGly [G]3303
contig referenceCGly [G]3303
2026003721087 rs756234494 0.000byFreq missenseAMet [M]1302
contig referenceGVal [V]1302
2026003731086 rs780359132 0.000byFreq synonymousTAsp [D]3301
contig referenceCAsp [D]3301
2026003851074 rs1465576256 N.D. synonymousALeu [L]3297
contig referenceCLeu [L]3297
2026004001059 rs372628488 0.000byClusterbyFreq YessynonymousALeu [L]3292
contig referenceGLeu [L]3292
2026004071052 rs904322687 N.D. missenseATyr [Y]2290
contig referenceGCys [C]2290
2026004071049 rs1408803977 N.D. frame shift-Ala [A]2289
contig referenceTCTGVal [V]2289
2026004131046 rs755306709 0.000 missenseGSer [S]2288
contig referenceCThr [T]2288
2026004151044 rs1323527553 N.D. synonymousTLeu [L]3287
contig referenceCLeu [L]3287
2026004171042 rs1259248501 N.D. missenseTPhe [F]1287
contig referenceCLeu [L]1287
2026004231036 rs1283800163 N.D. missenseAArg [R]1285
contig referenceGGly [G]1285
2026004241035 rs943335288 N.D. synonymousTAla [A]3284
contig referenceCAla [A]3284
2026004261033 rs1220899147 N.D. frame shift-Pro [P]1284
contig referenceGAla [A]1284
2026004271032 rs907699 0.052byClusterbyFreqbySubmitterWith1000GenomeData0.0837 YessynonymousAThr [T]3283
contig referenceGThr [T]3283
2026004281031 rs199542449 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGArg [R]2283
missenseTMet [M]2283
contig referenceCThr [T]2283
2026004301029 rs374302028 0.000byCluster YessynonymousTPro [P]3282
contig referenceCPro [P]3282
2026004361023 rs1331547398 N.D. synonymousCTyr [Y]3280
contig referenceTTyr [Y]3280
2026004401019 rs1318423342 N.D. missenseAHis [H]2279
contig referenceGArg [R]2279
2026004481011 rs1468832474 N.D. synonymousAThr [T]3276
contig referenceCThr [T]3276
2026004511008 rs778365654 0.000byFreq synonymousTCys [C]3275
contig referenceCCys [C]3275
2026004591000 rs1255861877 N.D. missenseAAsn [N]1273
contig referenceGAsp [D]1273
202600460999 rs746445612 0.000byFreq synonymousTGly [G]3272
contig referenceCGly [G]3272
202600464995 rs1210606441 N.D. missenseCPro [P]2271
contig referenceTLeu [L]2271
202600465994 rs1236530133 N.D. missenseAMet [M]1271
missenseGVal [V]1271
contig referenceCLeu [L]1271
202600472987 rs115267501 0.066byClusterbyFreqWith1000GenomeData0.0202 YessynonymousAPro [P]3268
contig referenceGPro [P]3268
202600473986 rs776179209 0.000byFreq missenseTLeu [L]2268
contig referenceCPro [P]2268
202601893981 rs1372365552 N.D. synonymousAGlu [E]3266
contig referenceGGlu [E]3266
202601898976 rs1159449771 N.D. missenseGGlu [E]1265
contig referenceALys [K]1265
202601904970 rs1360174968 N.D. missenseAArg [R]1263
contig referenceGGly [G]1263
202601905969 rs762689164 N.D. synonymousTGly [G]3262
contig referenceCGly [G]3262
202601907967 rs559392144 N.D.byCluster missenseASer [S]1262
contig referenceGGly [G]1262
202601914960 rs747538534 0.000 synonymousTAsp [D]3259
contig referenceCAsp [D]3259
202601923951 rs148164573 0.000byCluster YesmissenseTAsp [D]3256
contig referenceGGlu [E]3256
202601925949 rs146188377 0.000byClusterWith1000GenomeData0.0002 YesmissenseALys [K]1256
contig referenceGGlu [E]1256
202601930944 rs1038995274 N.D. missenseCThr [T]2254
contig referenceTIle [I]2254
202601935939 rs201827441 0.000byClusterWith1000GenomeData0.0002 YesmissenseTHis [H]3252
contig referenceGGln [Q]3252
202601940934 rs764034373 N.D. missenseASer [S]1251
contig referenceGGly [G]1251
202601941933 rs147286961 0.000byClusterbyFreq YessynonymousTLeu [L]3250
contig referenceCLeu [L]3250
202601946928 rs185806999 0.000byClusterWith1000GenomeData0.0002 YesmissenseTTyr [Y]1249
contig referenceGAsp [D]1249
202601947927 rs145097185 0.001byClusterbyFreqWith1000GenomeData0.0024 YessynonymousAVal [V]3248
contig referenceGVal [V]3248
202601948926 rs1293320602 N.D. missenseCAla [A]2248
contig referenceTVal [V]2248
202601950924 rs775141872 0.000 synonymousTThr [T]3247
contig referenceAThr [T]3247
202601956918 rs767415386 0.000byClusterbyFreq missenseAIle [I]3245
contig referenceGMet [M]3245
202601958916 rs768497389 0.000 missenseGVal [V]1245
contig referenceAMet [M]1245
202601959897 rs1407890398 N.D. frame shift-3239
contig reference(19bp)Gly [G]3239
202601972902 rs774068990 0.000 missenseGGly [G]2240
contig referenceAGlu [E]2240
202601978896 rs761786364 0.000 missenseCThr [T]2238
contig referenceTIle [I]2238
202601980894 rs1051781856 N.D. synonymousAIle [I]3237
contig referenceCIle [I]3237
202601988886 rs1418113899 N.D. missenseGAsp [D]1235
contig referenceCHis [H]1235
202601992882 rs1165485650 N.D. synonymousTSer [S]3233
contig referenceCSer [S]3233
202601999875 rs767599163 0.000byFreq missenseAHis [H]2231
contig referenceGArg [R]2231
202602007867 rs564953502 N.D. synonymousTAsp [D]3228
contig referenceCAsp [D]3228
202602009865 rs776808978 0.000 missenseAAsn [N]1228
contig referenceGAsp [D]1228
202602010864 rs774208529 0.000 synonymousCTyr [Y]3227
contig referenceTTyr [Y]3227
202602011863 rs1348099786 N.D. missenseGCys [C]2227
contig referenceATyr [Y]2227
202602013861 rs765495513 0.000 missenseGMet [M]3226
contig referenceCIle [I]3226
202602014860 rs752968184 0.000 missenseCThr [T]2226
contig referenceTIle [I]2226
202602015859 rs758613453 0.000 missenseGVal [V]1226
contig referenceAIle [I]1226
202602016858 rs1198196036 N.D. synonymousTAla [A]3225
contig referenceCAla [A]3225
202602022852 rs1237542596 N.D. synonymousAVal [V]3223
contig referenceGVal [V]3223
202602027847 rs1485923333 N.D. missenseAMet [M]1222
contig referenceCLeu [L]1222
202602028846 rs1261913938 N.D. synonymousAThr [T]3221
contig referenceTThr [T]3221
202602034840 rs764497959 0.000byFreq synonymousAGly [G]3219
contig referenceCGly [G]3219
202602035839 rs751909179 0.000 missenseAAsp [D]2219
contig referenceGGly [G]2219
202602037837 rs1208778475 N.D. synonymousAGly [G]3218
contig referenceGGly [G]3218
202602038836 rs1263653085 N.D. missenseCAla [A]2218
contig referenceGGly [G]2218
202602051823 rs757723127 0.000byClusterbyFreq missenseCHis [H]1214
contig referenceTTyr [Y]1214
202602052822 rs781683192 0.000 synonymousGPro [P]3213
contig referenceAPro [P]3213
202602055819 rs745326404 0.000 synonymousAVal [V]3212
contig referenceGVal [V]3212
202602057817 rs755630064 0.000 missenseAMet [M]1212
contig referenceGVal [V]1212
202602378816 rs1442123826 N.D. missenseCAsn [N]3211
contig referenceGLys [K]3211
202602380814 rs1185421532 N.D. missenseCGln [Q]1211
contig referenceALys [K]1211
202602390804 rs200249203 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTThr [T]3207
contig referenceCThr [T]3207
202602397797 rs757635183 0.000 missenseGSer [S]2205
contig referenceAAsn [N]2205
202602402792 rs1171266576 N.D. synonymousGAla [A]3203
contig referenceCAla [A]3203
202602403791 rs1384578200 N.D. missenseGGly [G]2203
contig referenceCAla [A]2203
202602411783 rs1422893938 N.D. synonymousALeu [L]3200
contig referenceGLeu [L]3200
202602412782 rs1335871494 N.D. missenseCPro [P]2200
contig referenceTLeu [L]2200
202602413781 rs551242051 N.D.With1000GenomeData missenseGVal [V]1200
contig referenceCLeu [L]1200
202602421773 rs201875273 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2197
contig referenceGArg [R]2197
202602422772 rs527247729 0.000byClusterbyFreqWith1000GenomeData missenseTTrp [W]1197
synonymousAArg [R]1197
contig referenceCArg [R]1197
202602424770 rs1402391039 N.D. missenseGArg [R]2196
contig referenceAHis [H]2196
202602425769 rs1395106470 N.D. missenseTTyr [Y]1196
contig referenceCHis [H]1196
202602433761 rs779589899 0.000 missenseTIle [I]2193
contig referenceCThr [T]2193
202602435759 rs201523966 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCAsp [D]3192
contig referenceGGlu [E]3192
202602438756 rs754617049 0.000byFreq synonymousCTyr [Y]3191
contig referenceTTyr [Y]3191
202602451743 rs778448898 0.000 missenseGArg [R]2187
contig referenceALys [K]2187
202602453741 rs747892848 0.000 missenseGGlu [E]3186
contig referenceCAsp [D]3186
202602456738 rs1235878278 N.D. synonymousCPro [P]3185
contig referenceTPro [P]3185
202602464730 rs1256955099 N.D. missenseTPhe [F]1183
contig referenceCLeu [L]1183
202602468726 rs771996113 0.000 synonymousTVal [V]3181
contig referenceCVal [V]3181
202602470724 rs567311430 0.000With1000GenomeData0.0002 missenseAIle [I]1181
contig referenceGVal [V]1181
202602471723 rs746928845 0.000byFreq synonymousALys [K]3180
contig referenceGLys [K]3180
202602475719 rs770814130 0.000 missenseCAla [A]2179
contig referenceTVal [V]2179
202602477717 rs775599124 0.000 synonymousCTyr [Y]3178
contig referenceTTyr [Y]3178
202602490704 rs755947670 N.D. missenseTIle [I]2174
contig referenceCThr [T]2174
202602492702 rs146524805 0.006byClusterbyFreqWith1000GenomeData0.0038 YessynonymousTGly [G]3173
contig referenceCGly [G]3173
202602498696 rs200836292 0.000byClusterbyFreq YesmissenseAIle [I]3171
contig referenceGMet [M]3171
202602500694 rs774443201 0.000byFreq missenseGVal [V]1171
contig referenceAMet [M]1171
202602501693 rs1378011653 N.D. synonymousTAsp [D]3170
contig referenceCAsp [D]3170
202602506688 rs1240316733 N.D. synonymousTLeu [L]1169
contig referenceCLeu [L]1169
202602509685 rs200601857 0.000byClusterWith1000GenomeData0.0002 YesmissenseCPro [P]1168
missenseTSer [S]1168
contig referenceGAla [A]1168
202602510684 rs541815952 N.D. synonymousGPro [P]3167
contig referenceTPro [P]3167
202602512682 rs1170411545 N.D. missenseTSer [S]1167
contig referenceCPro [P]1167
202602514680 rs767858768 0.000 missenseCPro [P]2166
contig referenceTLeu [L]2166
202602524670 rs1419758039 N.D. missenseAThr [T]1163
contig referenceGAla [A]1163
202602528666 rs750831490 0.000 synonymousTLeu [L]3161
contig referenceGLeu [L]3161
202602530664 rs1339001503 N.D. synonymousTLeu [L]1161
contig referenceCLeu [L]1161
202602533661 rs149665021 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1160
contig referenceGVal [V]1160
202602534660 rs766823679 0.000 synonymousTGly [G]3159
contig referenceCGly [G]3159
202602535659 rs199715462 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsp [D]2159
contig referenceGGly [G]2159
202602537657 rs754458809 0.000 synonymousAVal [V]3158
contig referenceGVal [V]3158
202603004643 rs757009175 0.000 missenseTTyr [Y]1154
contig referenceAAsn [N]1154
202603005642 rs781111971 0.000 synonymousCAla [A]3153
contig referenceTAla [A]3153
202603007640 rs1456853535 N.D. missenseTSer [S]1153
contig referenceGAla [A]1153
202603022625 rs1333731612 N.D. missenseCHis [H]1148
contig referenceGAsp [D]1148
202603026621 rs142617627 0.000byClusterWith1000GenomeData0.0002 YessynonymousTSer [S]3146
contig referenceCSer [S]3146
202603033614 rs1367462556 N.D. missenseGArg [R]2144
contig referenceAGln [Q]2144
202603035612 rs769822941 0.000 synonymousALeu [L]3143
contig referenceGLeu [L]3143
202603037610 rs778928746 0.000 synonymousTLeu [L]1143
contig referenceCLeu [L]1143
202603041606 rs1163294030 N.D. synonymousAGly [G]3141
contig referenceCGly [G]3141
202603043604 rs1403639384 N.D. missenseASer [S]1141
contig referenceGGly [G]1141
202603046601 rs1329535494 N.D. missenseGVal [V]1140
contig referenceCLeu [L]1140
202603052595 rs1405361471 N.D. missenseALys [K]1138
contig referenceGGlu [E]1138
202603054593 rs748254181 0.000byFreq missenseTLeu [L]2137
contig referenceCPro [P]2137
202603056591 rs1160701627 N.D. missenseTAsp [D]3136
contig referenceGGlu [E]3136
202603057590 rs1471796824 N.D. missenseGGly [G]2136
contig referenceAGlu [E]2136
202603062583 rs758744206 0.000 -1134
202603063584 rs199985621 N.D.With1000GenomeData missenseGGly [G]2134
contig referenceAGlu [E]2134
202603064583 rs1312097215 N.D. missenseALys [K]1134
contig referenceGGlu [E]1134
202603070577 rs772230018 0.000 missenseCGln [Q]1132
contig referenceGGlu [E]1132
202603072575 rs1231397586 N.D. missenseAGlu [E]2131
missenseCAla [A]2131
contig referenceGGly [G]2131
202603078569 rs773432443 0.000 missenseTVal [V]2129
contig referenceGGly [G]2129
202603081566 rs747330414 0.000 missenseGGly [G]2128
contig referenceAGlu [E]2128
202603082565 rs771193905 0.000 missenseCGln [Q]1128
contig referenceGGlu [E]1128
202603086561 rs777110675 0.000byFreq missenseCAsp [D]3126
contig referenceGGlu [E]3126
202603094553 rs1484033641 N.D. missenseAMet [M]1124
contig referenceCLeu [L]1124
202603095552 rs759937706 0.000 synonymousTGly [G]3123
contig referenceCGly [G]3123
202603099548 rs1040495147 N.D. missenseGArg [R]2122
missenseTIle [I]2122
contig referenceCThr [T]2122
202603100546 rs766759593 0.000 frame shift-Asp [D]3121
contig referenceGAGlu [E]3121
202603100547 rs1474490120 N.D. missenseGAla [A]1122
contig referenceAThr [T]1122
202603104543 rs1173421127 N.D. synonymousGAla [A]3120
contig referenceAAla [A]3120
202603106541 rs987703370 N.D. missenseAThr [T]1120
missenseTSer [S]1120
contig referenceGAla [A]1120
202603106539 rs1425031974 N.D. -2119
202603107540 rs141305662 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousTAsp [D]3119
contig referenceCAsp [D]3119
202603109538 rs138854819 0.000byClusterbyFreq missenseAAsn [N]1119
missenseCHis [H]1119
contig referenceGAsp [D]1119
202603110537 rs1405701939 N.D. synonymousTAsp [D]3118
contig referenceCAsp [D]3118
202603111531 rs751800267 0.000byFreq -3118
202603112535 rs1449043313 N.D. missenseAAsn [N]1118
contig referenceGAsp [D]1118
202603113534 rs150392142 0.001byClusterbyFreqWith1000GenomeData0.0014 synonymousTAsp [D]3117
contig referenceCAsp [D]3117
202603118529 rs1377106574 N.D. missenseCHis [H]1116
contig referenceGAsp [D]1116
202604455528 rs1371810856 N.D. missenseCHis [H]3115
contig referenceGGln [Q]3115
202604460523 rs776145936 0.000 missenseTCys [C]1114
contig referenceGGly [G]1114
202604463520 rs898262901 N.D. missenseAArg [R]1113
contig referenceGGly [G]1113
202604473510 rs763624033 0.000 synonymousALys [K]3109
contig referenceGLys [K]3109
202604476507 rs201459221 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]3108
contig referenceGMet [M]3108
202604479504 rs1345378385 N.D. synonymousTAsn [N]3107
contig referenceCAsn [N]3107
202604486497 rs1218080073 N.D. missenseAAsp [D]2105
contig referenceCAla [A]2105
202604492491 rs773963322 0.000 missenseGArg [R]2103
contig referenceALys [K]2103
202604495488 rs570512944 0.000With1000GenomeData0.0002 missenseCThr [T]2102
contig referenceTMet [M]2102
202604496487 rs767225887 0.000byFreq missenseGVal [V]1102
missenseTLeu [L]1102
contig referenceAMet [M]1102
202604502481 rs1429105789 N.D. missenseCGln [Q]1100
contig referenceALys [K]1100
202604503480 rs1249005240 N.D. synonymousTGly [G]399
contig referenceCGly [G]399
202604503480 rs1368954901 N.D. frame shift-Ala [A]3101
contig referenceCGly [G]3101
202604505473 rs748838062 0.000 -297
202604505478 rs755914506 0.000 missenseASer [S]199
contig referenceGGly [G]199
202604509472 rs1393433407 N.D. -197
202604510473 rs1057030050 N.D. missenseTVal [V]297
contig referenceAGlu [E]297
202604512471 rs138329929 0.000byCluster synonymousALys [K]396
contig referenceGLys [K]396
202604512469 rs756794314 0.000 -196
202604518465 rs753769780 N.D. missenseGLys [K]394
contig referenceCAsn [N]394
202604519462 rs745806917 0.337byFreq -393
202604519459 rs778763613 0.000byFreq -392
202604521462 rs1360018682 N.D. synonymousALys [K]393
contig referenceGLys [K]393
202604522461 rs1399069348 N.D. missenseGArg [R]293
contig referenceALys [K]293
202604524459 rs758978103 0.000byFreq missenseCAsn [N]392
contig referenceGLys [K]392
202604534449 rs777807547 0.000byFreq missenseATyr [Y]289
missenseCSer [S]289
contig referenceGCys [C]289
202604540443 rs757372231 0.000 missenseATyr [Y]287
contig referenceGCys [C]287
202604542441 rs781491626 0.000byFreq synonymousGLys [K]386
contig referenceALys [K]386
202604554429 rs139278075 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTCys [C]382
contig referenceCCys [C]382
202604562411 rs1368259754 N.D. frame shift-Leu [L]378
contig reference(11bp)Thr [T]378
202604567416 rs930823719 N.D. missenseTIle [I]278
contig referenceCThr [T]278
202604575408 rs1005719113 N.D. synonymousALeu [L]375
contig referenceGLeu [L]375
202604578405 rs770281263 0.000 synonymousALeu [L]374
synonymousTLeu [L]374
contig referenceCLeu [L]374
202604585398 rs1271157459 N.D. missenseGGly [G]272
contig referenceCAla [A]272
202604590393 rs1480684115 N.D. synonymousTVal [V]370
contig referenceGVal [V]370
202604592391 rs1018884082 N.D. missenseAMet [M]170
contig referenceGVal [V]170
202604601382 rs147177966 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]167
contig referenceGAla [A]167
202604602381 rs375528841 0.000byClusterbyFreq synonymousTIle [I]366
contig referenceCIle [I]366
202604603380 rs894694562 N.D. missenseCThr [T]266
contig referenceTIle [I]266
202604609374 rs1292643005 N.D. missenseTVal [V]264
contig referenceCAla [A]264
202604616367 rs769330585 0.000 missenseTSer [S]162
contig referenceCPro [P]162
202604619364 rs1221225207 N.D. missenseTSer [S]161
contig referenceCPro [P]161
202605596360 rs757364180 0.000 synonymousGPro [P]359
contig referenceCPro [P]359
202605606350 rs781197774 0.000 missenseGSer [S]256
contig referenceAAsn [N]256
202605608348 rs1238145975 N.D. missenseGMet [M]355
contig referenceAIle [I]355
202605614342 rs750645971 0.000byFreq missenseALys [K]353
contig referenceTAsn [N]353
202605615341 rs191979877 0.000byClusterWith1000GenomeData0.0002 missenseGSer [S]253
contig referenceAAsn [N]253
202605623333 rs371333320 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTAsn [N]350
contig referenceGLys [K]350
202605626328 rs746725648 0.000 -149
202605628328 rs749704614 0.000 missenseALys [K]149
contig referenceGGlu [E]149
202605630326 rs142067373 0.000byCluster missenseTMet [M]248
contig referenceALys [K]248
202605634322 rs201705415 0.002byCluster synonymousTLeu [L]147
contig referenceCLeu [L]147
202605638318 rs1171134367 N.D. synonymousTAla [A]345
contig referenceCAla [A]345
202605639317 rs963024812 N.D. missenseTVal [V]245
contig referenceCAla [A]245
202605648308 rs150707131 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]242
contig referenceAAsp [D]242
202605649307 rs1390817208 N.D. frame shift-Thr [T]142
contig referenceGAsp [D]142
202605651305 rs144131984 0.000byClusterbyFreq missenseGGly [G]241
contig referenceAGlu [E]241
202605656300 rs1968583 0.498byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3588 missenseAArg [R]339
missenseAArg [R]339
missenseAArg [R]339
missenseAArg [R]339
missenseGArg [R]339
missenseGArg [R]339
missenseGArg [R]339
missenseGArg [R]339
synonymousTSer [S]339
synonymousTSer [S]339
synonymousTSer [S]339
synonymousTSer [S]339
contig referenceCSer [S]339
contig referenceCSer [S]339
contig referenceCSer [S]339
contig referenceCSer [S]339
202605659297 rs1413688999 N.D. synonymousAGlu [E]338
contig referenceGGlu [E]338
202605661295 rs772654352 0.000 missenseALys [K]138
contig referenceGGlu [E]138
202605670286 rs1343009778 N.D. missenseTCys [C]135
contig referenceGGly [G]135
202605685271 rs760297845 0.000 missenseCPro [P]130
contig referenceTSer [S]130
202605689267 rs1251117139 N.D. synonymousTAsp [D]328
contig referenceCAsp [D]328
202605694262 rs1337640409 N.D. missenseAMet [M]127
contig referenceGVal [V]127
202605695261 rs770609120 0.000 synonymousTPro [P]326
contig referenceCPro [P]326
202605702254 rs199582045 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]224
contig referenceTIle [I]224
202605704252 rs759339554 0.000 synonymousAPro [P]323
synonymousTPro [P]323
contig referenceCPro [P]323
202605707249 rs1185968772 N.D. missenseAIle [I]322
contig referenceGMet [M]322
202605710246 rs765017790 0.000byFreq synonymousAThr [T]321
contig referenceGThr [T]321
202605711245 rs752677756 0.000byFreq missenseTMet [M]221
contig referenceCThr [T]221
202605714242 rs762858188 0.000byFreq missenseTVal [V]220
contig referenceCAla [A]220
202605715240 rs148984496 N.D.byClusterWith1000GenomeData frame shift(10bp)Pro [P]320
contig reference-Ala [A]320
202605715241 rs764945265 0.000byFreq missenseAThr [T]120
missenseTSer [S]120
contig referenceGAla [A]120
202605716240 rs577256584 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousTThr [T]319
contig referenceCThr [T]319
202605717239 rs756368786 0.000 missenseTIle [I]219
contig referenceCThr [T]219
202605718238 rs115811532 N.D.byCluster missenseCPro [P]119
contig referenceAThr [T]119
202605724232 rs75160100 0.000byCluster missenseCPro [P]117
missenseGAla [A]117
missenseTSer [S]117
contig referenceAThr [T]117
202605727229 rs1209035387 N.D. missenseTSer [S]116
contig referenceGAla [A]116
202605728228 rs1433557984 N.D. synonymousCPro [P]315
contig referenceTPro [P]315
202605730226 rs1310543959 N.D. missenseTSer [S]115
contig referenceCPro [P]115
202605732224 rs754193594 0.000 missenseTVal [V]214
contig referenceCAla [A]214
202605735221 rs755370697 0.000byFreq missenseGGly [G]213
contig referenceTVal [V]213
202605736220 rs779209589 0.000 missenseAMet [M]113
contig referenceGVal [V]113
202605738218 rs1237676550 N.D. missenseCThr [T]212
contig referenceTIle [I]212
202605741215 rs904140584 N.D. missenseGArg [R]211
contig referenceCPro [P]211
202605742214 rs748672889 0.000byFreq missenseGAla [A]111
missenseTSer [S]111
contig referenceCPro [P]111
202605745211 rs758876808 0.000byFreq missenseALys [K]110
contig referenceGGlu [E]110
202605749207 rs777304720 0.000 missenseALys [K]38
synonymousTAsn [N]38
contig referenceCAsn [N]38
202605751203 rs768891740 0.000 -27
202605753203 rs746553476 0.000 missenseALys [K]27
contig referenceGArg [R]27
202605754202 rs564575210 0.000With1000GenomeData0.0002 missenseTTrp [W]17
contig referenceAArg [R]17
202605758198 rs776270029 0.000 synonymousTPhe [F]35
contig referenceCPhe [F]35
202605766190 rs202181629 0.000byClusterbyFreq missenseGAsp [D]13
contig referenceAAsn [N]13
202605771185 rs374727200 0.000byClusterbyFreq missenseCThr [T]21
contig referenceTMet [M]21