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SNP linked to Gene (geneID:125972) 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): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_145046.4minus strandNP_659483.2reverseNT_011295.12GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_011295.12NM_145046.4NP_659483.2reverseminus strand384, 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
164791341215 rs1443146127 N.D. synonymousCLeu [L]3384
contig referenceTLeu [L]3384
164791351214 rs1469956051 N.D. missenseCPro [P]2384
contig referenceTLeu [L]2384
164791361213 rs752364126 0.000 missenseTPhe [F]1384
contig referenceCLeu [L]1384
164791391210 rs368434498 0.000byCluster missenseALys [K]1383
contig referenceGGlu [E]1383
164791401209 rs777411023 0.000byFreq missenseGLys [K]3382
contig referenceTAsn [N]3382
164791441205 rs1183298933 N.D. missenseALys [K]2381
contig referenceGArg [R]2381
164791451204 rs1429055211 N.D. missenseGGly [G]1381
synonymousCArg [R]1381
contig referenceAArg [R]1381
164791481201 rs746938291 0.000 missenseGGly [G]1380
contig referenceAArg [R]1380
164791521197 rs1174834467 N.D. missenseALeu [L]3378
contig referenceTPhe [F]3378
164791541192 rs1426645883 N.D. frame shift-Phe [F]1377
contig referenceCAATGln [Q]1377
164791551194 rs767040811 0.000 synonymousGGln [Q]3377
contig referenceAGln [Q]3377
164791571192 rs372514243 0.000byCluster nonsenseT1377
missenseGGlu [E]1377
contig referenceCGln [Q]1377
164791591190 rs1368274911 N.D. missenseGSer [S]2376
contig referenceAAsn [N]2376
164791611188 rs1411299515 N.D. synonymousTPhe [F]3375
contig referenceCPhe [F]3375
164791711178 rs375160369 0.000byCluster missenseGGly [G]2372
contig referenceAGlu [E]2372
164791721177 rs140440387 0.001byClusterbyFreq nonsenseT1372
missenseALys [K]1372
missenseCGln [Q]1372
contig referenceGGlu [E]1372
164791731176 rs768736111 0.000byFreq synonymousTHis [H]3371
contig referenceCHis [H]3371
164791761173 rs774421614 0.000byFreq synonymousAArg [R]3370
contig referenceGArg [R]3370
164791771172 rs1037886844 N.D. missenseALys [K]2370
contig referenceGArg [R]2370
164791851164 rs1365103502 N.D. synonymousGLys [K]3367
contig referenceALys [K]3367
164791911158 rs200844516 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]3365
synonymousCSer [S]3365
synonymousTSer [S]3365
contig referenceGSer [S]3365
164791921157 rs768015132 0.000byFreq missenseTLeu [L]2365
contig referenceCSer [S]2365
164791971152 rs201203591 0.002byCluster synonymousALeu [L]3363
synonymousTLeu [L]3363
contig referenceGLeu [L]3363
164791981151 rs1406524268 N.D. missenseAGln [Q]2363
contig referenceTLeu [L]2363
164791991150 rs199900092 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1363
missenseGVal [V]1363
synonymousTLeu [L]1363
contig referenceCLeu [L]1363
164792031146 rs1206156929 N.D. synonymousGGlu [E]3361
contig referenceAGlu [E]3361
164792061143 rs752458256 0.000 synonymousAGlu [E]3360
contig referenceGGlu [E]3360
164792081141 rs200524093 0.000byCluster nonsenseT1360
missenseALys [K]1360
contig referenceGGlu [E]1360
164792091140 rs758070959 0.000 synonymousAGlu [E]3359
contig referenceGGlu [E]3359
164792171132 rs777429499 0.000byFreq missenseALys [K]1357
contig referenceGGlu [E]1357
164792181131 rs148039385 0.000byClusterbyFreq synonymousTArg [R]3356
contig referenceCArg [R]3356
164792191130 rs140290452 0.004byClusterbyFreqWith1000GenomeData0.0070 missenseAHis [H]2356
missenseTLeu [L]2356
contig referenceGArg [R]2356
164792201129 rs150430942 0.000byClusterbyFreq missenseGGly [G]1356
missenseTCys [C]1356
contig referenceCArg [R]1356
164792221127 rs1021462598 N.D. missenseTVal [V]2355
contig referenceCAla [A]2355
164792271122 rs138239732 0.000byCluster missenseCAsn [N]3353
contig referenceGLys [K]3353
164792281121 rs1389735275 N.D. missenseGArg [R]2353
contig referenceALys [K]2353
164792361113 rs1384915129 N.D. synonymousAGlu [E]3350
contig referenceGGlu [E]3350
164792471102 rs749516012 0.000 nonsenseT1347
contig referenceCGln [Q]1347
164792501099 rs768826027 0.000byFreq missenseGVal [V]1346
contig referenceAIle [I]1346
164792521097 rs1434314862 N.D. missenseGGly [G]2345
contig referenceCAla [A]2345
164792541095 rs1295425719 N.D. missenseAGlu [E]3344
contig referenceTAsp [D]3344
164792551093 rs1367451600 N.D. frame shiftGGly [G]1344
contig reference-Asp [D]1344
164792561093 rs1442669794 N.D. missenseAAsn [N]1344
contig referenceGAsp [D]1344
164792571092 rs371168255 0.000byCluster YesmissenseAIle [I]3343
contig referenceGMet [M]3343
164792581091 rs748304873 0.000byFreq missenseCThr [T]2343
contig referenceTMet [M]2343
164792591090 rs1383489056 N.D. missenseGVal [V]1343
contig referenceAMet [M]1343
164792701079 rs1365106703 N.D. missenseTLeu [L]2339
contig referenceCPro [P]2339
164792731076 rs998776696 N.D. missenseTVal [V]2338
contig referenceGGly [G]2338
164792741075 rs1464373986 N.D. missenseASer [S]1338
contig referenceGGly [G]1338
164806141074 rs774121735 0.000 synonymousALys [K]3337
contig referenceGLys [K]3337
164806181070 rs761312779 0.000byFreq missenseAAsn [N]2336
contig referenceCThr [T]2336
164806221066 rs199535524 0.000byCluster YesmissenseALys [K]1335
contig referenceGGlu [E]1335
164806231065 rs143913852 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGly [G]3334
synonymousTGly [G]3334
contig referenceCGly [G]3334
164806251063 rs1454263727 N.D. missenseCArg [R]1334
contig referenceGGly [G]1334
164806301058 rs942988020 N.D. missenseTIle [I]2332
contig referenceCThr [T]2332
164806331055 rs766349117 0.000 missenseTVal [V]2331
contig referenceCAla [A]2331
164806341054 rs976932635 N.D. missenseAThr [T]1331
contig referenceGAla [A]1331
164806381050 rs753739592 0.000byFreq synonymousAGly [G]3329
synonymousGGly [G]3329
contig referenceCGly [G]3329
164806391049 rs927113969 N.D. missenseAAsp [D]2329
contig referenceGGly [G]2329
164806471041 rs1198785474 N.D. missenseAGlu [E]3326
synonymousCAsp [D]3326
contig referenceTAsp [D]3326
164806481040 rs754830521 0.000 missenseGGly [G]2326
contig referenceAAsp [D]2326
164806491039 rs147253682 0.000 YesmissenseCHis [H]1326
contig referenceGAsp [D]1326
164806521036 rs1398000694 N.D. missenseAThr [T]1325
contig referenceGAla [A]1325
164806531035 rs9305079 0.421byClusterbyFreqwith2hitWith1000GenomeData0.3494 YesnonsenseA3324
synonymousTTyr [Y]3324
contig referenceCTyr [Y]3324
164806541034 rs1350228189 N.D. missenseCSer [S]2324
contig referenceATyr [Y]2324
164806561032 rs758485228 0.000byFreq missenseCAsp [D]3323
contig referenceGGlu [E]3323
164806581030 rs1168371634 N.D. missenseALys [K]1323
contig referenceGGlu [E]1323
164806591029 rs777944225 0.000byFreq synonymousGGlu [E]3322
contig referenceAGlu [E]3322
164806631025 rs985096797 N.D. missenseGGly [G]2321
contig referenceAAsp [D]2321
164806641024 rs143334090 0.000byCluster YesmissenseAAsn [N]1321
contig referenceGAsp [D]1321
164806841004 rs1233176565 N.D. missenseTVal [V]2314
contig referenceAAsp [D]2314
164806851003 rs771113248 0.000 missenseTTyr [Y]1314
contig referenceGAsp [D]1314
16480697991 rs753445939 N.D. missenseAArg [R]1310
contig referenceGGly [G]1310
16480700988 rs1368728991 N.D. missenseAThr [T]1309
contig referenceTSer [S]1309
16480702986 rs369518093 0.000byClusterbyFreq YesmissenseTIle [I]2308
contig referenceGArg [R]2308
16482451980 rs1339366773 N.D. missenseGArg [R]2306
contig referenceAGln [Q]2306
16482459972 rs757479953 0.000byFreq missenseTAsp [D]3303
contig referenceGGlu [E]3303
16482465966 rs781409571 0.000 synonymousTGly [G]3301
contig referenceCGly [G]3301
16482467964 rs374467745 N.D. YesmissenseCArg [R]1301
contig referenceGGly [G]1301
16482485946 rs746379101 0.000 missenseALys [K]1295
contig referenceGGlu [E]1295
16482488943 rs1457763567 N.D. missenseAIle [I]1294
contig referenceTPhe [F]1294
16482491940 rs753958854 N.D. missenseALys [K]1293
contig referenceGGlu [E]1293
16482494937 rs770159581 0.000 missenseCPro [P]1292
contig referenceTSer [S]1292
16482499932 rs1392687037 N.D. missenseTVal [V]2290
contig referenceAAsp [D]2290
16482503928 rs1370293522 N.D. missenseCHis [H]1289
contig referenceTTyr [Y]1289
16482505926 rs201922129 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2288
contig referenceAGln [Q]2288
16482507924 rs118131979 0.025byClusterbyFreqWith1000GenomeData0.0054 YessynonymousAThr [T]3287
synonymousCThr [T]3287
contig referenceGThr [T]3287
16482508923 rs772912504 0.000byFreq missenseALys [K]2287
missenseTMet [M]2287
contig referenceCThr [T]2287
16482509922 rs760304266 0.000 missenseTSer [S]1287
contig referenceAThr [T]1287
16482510921 rs1275633743 N.D. synonymousALeu [L]3286
contig referenceGLeu [L]3286
16482512919 rs770439289 0.000 synonymousCLeu [L]1286
contig referenceTLeu [L]1286
16482514917 rs1307826633 N.D. missenseGCys [C]2285
contig referenceATyr [Y]2285
16482518913 rs10404156 0.003byClusterbyFreqWith1000GenomeData0.0054 YesmissenseAAsn [N]1284
contig referenceGAsp [D]1284
16482519912 rs142902333 0.000byCluster YessynonymousTThr [T]3283
contig referenceCThr [T]3283
16482520911 rs75099211 0.001byClusterbyFreqWith1000GenomeData0.0020 YesmissenseTIle [I]2283
contig referenceCThr [T]2283
16482530901 rs752661774 0.000 missenseTLeu [L]1280
contig referenceAMet [M]1280
16482533898 rs1490850481 N.D. nonsenseT1279
contig referenceALys [K]1279
16482536895 rs543953490 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]1278
contig referenceCArg [R]1278
16482538893 rs1190733550 N.D. missenseTLeu [L]2277
contig referenceAHis [H]2277
16482543888 rs183119380 N.D.With1000GenomeData YesmissenseTCys [C]3275
contig referenceGTrp [W]3275
16482548883 rs12459238 0.058byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0421 YesmissenseAIle [I]1274
missenseCLeu [L]1274
contig referenceGVal [V]1274
16482549882 rs371638034 0.000byClusterbyFreq YessynonymousTAsp [D]3273
contig referenceCAsp [D]3273
16482555876 rs531275904 0.000byFreqWith1000GenomeData0.0004 synonymousCHis [H]3271
contig referenceTHis [H]3271
16482556875 rs1306282315 N.D. missenseGArg [R]2271
contig referenceAHis [H]2271
16482564867 rs767734348 0.000 missenseTAsp [D]3268
contig referenceAGlu [E]3268
16482564867 rs1351985400 N.D. frame shift-Val [V]3269
contig referenceAGly [G]3269
16482567864 rs1475737165 N.D. frame shift-Lys [K]3268
contig referenceAGlu [E]3268
16482568863 rs750420703 0.000 missenseAGln [Q]2267
missenseTLeu [L]2267
contig referenceCPro [P]2267
16482569862 rs1387247680 N.D. missenseTSer [S]1267
contig referenceCPro [P]1267
16482576855 rs1432309623 N.D. synonymousTGly [G]3264
contig referenceCGly [G]3264
16482577854 rs756195821 0.000byClusterbyFreq missenseTVal [V]2264
contig referenceGGly [G]2264
16482578853 rs780461586 0.000byFreq missenseASer [S]1264
missenseTCys [C]1264
contig referenceGGly [G]1264
16482579852 rs755353074 0.000 missenseAGlu [E]3263
contig referenceTAsp [D]3263
16482580851 rs779188602 0.000byFreq missenseGGly [G]2263
contig referenceAAsp [D]2263
16482581850 rs200056222 0.000byClusterWith1000GenomeData0.0002 YesmissenseCHis [H]1263
contig referenceGAsp [D]1263
16482678849 rs769250010 0.000byFreq missenseTHis [H]3262
contig referenceGGln [Q]3262
16482682845 rs1376856650 N.D. missenseCSer [S]2261
contig referenceATyr [Y]2261
16482685842 rs1003038871 N.D. missenseTLeu [L]2260
contig referenceCPro [P]2260
16482686840 rs1307104956 N.D. frame shiftGGGly [G]3260
contig reference-Pro [P]3260
16482687840 rs143252466 0.000byClusterbyFreq YessynonymousAPro [P]3259
synonymousTPro [P]3259
contig referenceCPro [P]3259
16482691835 rs1444274515 N.D. frame shift-Ala [A]1258
contig referenceAALys [K]1258
16482693834 rs768662294 0.000 synonymousAGln [Q]3257
contig referenceGGln [Q]3257
16482694833 rs774405654 0.000byFreq missenseCPro [P]2257
contig referenceAGln [Q]2257
16482698829 rs1183484360 N.D. missenseTPhe [F]1256
contig referenceCLeu [L]1256
16482702825 rs868037272 N.D.byCluster synonymousAPro [P]3254
contig referenceGPro [P]3254
16482703824 rs761736548 0.000byFreq missenseTLeu [L]2254
contig referenceCPro [P]2254
16482704823 rs891866967 N.D. missenseTSer [S]1254
contig referenceCPro [P]1254
16482705822 rs1011639048 N.D. synonymousAAla [A]3253
contig referenceGAla [A]3253
16482706821 rs771984164 0.000 missenseTVal [V]2253
contig referenceCAla [A]2253
16482707820 rs1272928227 N.D. missenseCPro [P]1253
contig referenceGAla [A]1253
16482710817 rs773363847 0.000 missenseTSer [S]1252
contig referenceCPro [P]1252
16482713814 rs1183143020 N.D. missenseCArg [R]1251
contig referenceTTrp [W]1251
16482714813 rs149008417 0.000byClusterWith1000GenomeData0.0002 YessynonymousTAsp [D]3250
contig referenceCAsp [D]3250
16482718809 rs1246683291 N.D. missenseTVal [V]2249
contig referenceGGly [G]2249
16482721806 rs10411092 0.000byCluster YesmissenseCAla [A]2248
missenseGGly [G]2248
contig referenceAAsp [D]2248
16482722805 rs766372296 0.000 missenseAAsn [N]1248
contig referenceGAsp [D]1248
16482723804 rs1188902703 N.D. synonymousCLeu [L]3247
contig referenceGLeu [L]3247
16482724803 rs961599926 N.D. missenseAGln [Q]2247
contig referenceTLeu [L]2247
16482726801 rs780488544 N.D. synonymousTAsp [D]3246
contig referenceCAsp [D]3246
16482731796 rs753917463 0.000byFreq missenseASer [S]1245
contig referenceGGly [G]1245
16482732795 rs201198066 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]3244
synonymousTAsn [N]3244
contig referenceCAsn [N]3244
16482736791 rs1167634332 N.D. nonsenseA2243
contig referenceGTrp [W]2243
16482740787 rs146669521 0.000byClusterbyFreq YesmissenseAAsn [N]1242
missenseCHis [H]1242
contig referenceGAsp [D]1242
16482741786 rs753171373 0.000byFreq missenseAArg [R]3241
synonymousTSer [S]3241
contig referenceCSer [S]3241
16482754773 rs1329331101 N.D. missenseTIle [I]2237
contig referenceCThr [T]2237
16482759768 rs1330398267 N.D. synonymousTAla [A]3235
contig referenceCAla [A]3235
16482762765 rs10403020 0.254byClusterbyFreqWith1000GenomeData0.1446 YessynonymousTAsp [D]3234
contig referenceCAsp [D]3234
16482763764 rs867966666 N.D.byCluster missenseGGly [G]2234
contig referenceAAsp [D]2234
16482771756 rs1305636539 N.D. synonymousCHis [H]3231
contig referenceTHis [H]3231
16482779748 rs1371905502 N.D. missenseCGln [Q]1229
contig referenceGGlu [E]1229
16482783744 rs1227929044 N.D. missenseAGlu [E]3227
contig referenceCAsp [D]3227
16483930741 rs776696174 0.000byFreq missenseTHis [H]3226
synonymousAGln [Q]3226
contig referenceGGln [Q]3226
16483932739 rs1466430342 N.D. missenseGGlu [E]1226
contig referenceCGln [Q]1226
16483935736 rs765297065 0.000 missenseTSer [S]1225
contig referenceGAla [A]1225
16483941730 rs368652672 0.000byClusterbyFreq YesmissenseGAsp [D]1223
contig referenceAAsn [N]1223
16483942729 rs1354750773 N.D. synonymousTAsp [D]3222
contig referenceCAsp [D]3222
16483950721 rs763397517 0.000 missenseGAla [A]1220
contig referenceAThr [T]1220
16483951720 rs764373762 0.000 synonymousAGln [Q]3219
contig referenceGGln [Q]3219
16483953708 rs1464864695 N.D. frame shift-3217
contig reference(11bp)Trp [W]3217
16483957714 rs1207493969 N.D. nonsenseA3217
contig referenceGTrp [W]3217
16483960711 rs372889302 0.000byCluster YessynonymousCAsp [D]3216
contig referenceTAsp [D]3216
16483962709 rs529644089 0.000With1000GenomeData0.0002 missenseAAsn [N]1216
contig referenceGAsp [D]1216
16483966705 rs200669493 0.000byCluster YessynonymousASer [S]3214
contig referenceGSer [S]3214
16483967704 rs550089146 0.000byFreqWith1000GenomeData0.0002 missenseGTrp [W]2214
missenseTLeu [L]2214
contig referenceCSer [S]2214
16483969702 rs377026384 0.000byClusterbyFreq YessynonymousGGlu [E]3213
contig referenceAGlu [E]3213
16483975696 rs748099861 0.000byFreq synonymousAPro [P]3211
contig referenceGPro [P]3211
16483976695 rs772004043 0.000 missenseTLeu [L]2211
contig referenceCPro [P]2211
16483977694 rs1366925357 N.D. missenseTSer [S]1211
contig referenceCPro [P]1211
16483981690 rs777454147 0.000 synonymousAThr [T]3209
contig referenceGThr [T]3209
16483982689 rs746871999 0.000 missenseALys [K]2209
missenseTMet [M]2209
contig referenceCThr [T]2209
16483985686 rs1350003595 N.D. missenseCAla [A]2208
contig referenceAGlu [E]2208
16483989682 rs111870908 0.000byClusterbyFreq YesmissenseGGlu [E]1207
contig referenceALys [K]1207
16483991680 rs1244808121 N.D. missenseGArg [R]2206
contig referenceALys [K]2206
16483999672 rs776906320 0.000 synonymousTThr [T]3203
contig referenceAThr [T]3203
16484000671 rs150376706 0.000byCluster YesmissenseTIle [I]2203
contig referenceCThr [T]2203
16484004667 rs769879360 0.000 synonymousCLeu [L]1202
contig referenceTLeu [L]1202
16484007664 rs775484097 0.000 missenseCHis [H]1201
contig referenceAAsn [N]1201
16484013647 rs1235479671 N.D. -Asn [N]2195
16484013658 rs1294312560 N.D. missenseAAsn [N]1199
missenseCHis [H]1199
contig referenceGAsp [D]1199
16484014657 rs145046810 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTTyr [Y]3198
contig referenceCTyr [Y]3198
16484017654 rs1034788641 N.D. missenseCAsp [D]3197
contig referenceGGlu [E]3197
16484021650 rs1258428984 N.D. missenseCThr [T]2196
contig referenceTIle [I]2196
16484022649 rs1246411297 N.D. missenseGVal [V]1196
contig referenceAIle [I]1196
16484023648 rs1352290392 N.D. synonymousTSer [S]3195
contig referenceCSer [S]3195
16484028643 rs764707663 0.000 missenseASer [S]1194
contig referenceGGly [G]1194
16484029642 rs149108772 0.000byClusterbyFreq YessynonymousTSer [S]3193
contig referenceCSer [S]3193
16484038630 rs778627769 0.000byFreq frame shift-Leu [L]3190
contig referenceGTCASer [S]3190
16484043625 rs1189744467 N.D. frame shift-Ser [S]1188
contig referenceGGTCGly [G]1188
16484044627 rs747656642 0.000byFreq frame shift-Ser [S]3189
contig referenceTGln [Q]3189
16484047624 rs762301226 0.000 synonymousCAsp [D]3187
contig referenceTAsp [D]3187
16484050621 rs1156904109 N.D. synonymousCIle [I]3186
contig referenceTIle [I]3186
16484058613 rs1365581053 N.D. missenseAMet [M]1184
contig referenceGVal [V]1184
16484062609 rs369476772 0.000byClusterbyFreq YessynonymousCTyr [Y]3182
contig referenceTTyr [Y]3182
16484063608 rs1035181108 N.D. missenseGCys [C]2182
contig referenceATyr [Y]2182
16484087584 rs1248561462 N.D. missenseCPro [P]2174
contig referenceTLeu [L]2174
16484088583 rs143671909 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseAIle [I]1174
contig referenceCLeu [L]1174
16484091580 rs374187284 0.000byCluster YesmissenseGAla [A]1173
contig referenceAThr [T]1173
16484092579 rs552364605 0.000With1000GenomeData0.0002 nonsenseA3172
contig referenceCTyr [Y]3172
16484096575 rs1313798370 N.D. missenseCPro [P]2171
contig referenceTLeu [L]2171
16484097574 rs752204583 0.000 synonymousTLeu [L]1171
contig referenceCLeu [L]1171
16484100571 rs376733366 0.000byClusterbyFreq YesmissenseAAsn [N]1170
missenseTTyr [Y]1170
contig referenceCHis [H]1170
16484106565 rs1309847467 N.D. missenseAIle [I]1168
contig referenceTPhe [F]1168
16484108563 rs746917889 0.000byFreq missenseAAsp [D]2167
contig referenceGGly [G]2167
16484108563 rs1336985608 N.D. frame shift-Ala [A]2167
contig referenceGGly [G]2167
16484109562 rs1254928104 N.D. missenseASer [S]1167
contig referenceGGly [G]1167
16484114557 rs1170351089 N.D. missenseCAla [A]2165
contig referenceTVal [V]2165
16484115556 rs780912191 0.000 missenseAIle [I]1165
missenseTPhe [F]1165
contig referenceGVal [V]1165
16485167551 rs778791995 0.000 missenseATyr [Y]2163
missenseCSer [S]2163
contig referenceGCys [C]2163
16485168550 rs913700302 N.D. missenseASer [S]1163
contig referenceTCys [C]1163
16485171547 rs1172919657 N.D. missenseGGly [G]1162
missenseTTrp [W]1162
contig referenceAArg [R]1162
16485172546 rs143158265 0.004byClusterbyFreqWith1000GenomeData0.0006 YessynonymousAIle [I]3161
contig referenceCIle [I]3161
16485175543 rs1457842896 N.D. synonymousALeu [L]3160
contig referenceGLeu [L]3160
16485181537 rs1324542856 N.D. synonymousALys [K]3158
contig referenceGLys [K]3158
16485183535 rs867026277 N.D.byCluster missenseCGln [Q]1158
missenseGGlu [E]1158
contig referenceALys [K]1158
16485189529 rs1442412253 N.D. missenseALys [K]1156
contig referenceGGlu [E]1156
16485190528 rs772657021 0.000byFreq missenseGGln [Q]3155
synonymousTHis [H]3155
contig referenceCHis [H]3155
16485198520 rs1360767331 N.D. missenseGGlu [E]1153
contig referenceALys [K]1153
16485200518 rs761162376 0.000 missenseCThr [T]2152
contig referenceAAsn [N]2152
16485203515 rs1297452902 N.D. missenseGArg [R]2151
contig referenceALys [K]2151
16485205513 rs148241645 0.000byCluster YesmissenseALeu [L]3150
synonymousTPhe [F]3150
contig referenceCPhe [F]3150
16485208510 rs931054694 N.D. missenseGGln [Q]3149
contig referenceTHis [H]3149
16485217501 rs771419918 0.000 synonymousAVal [V]3146
contig referenceTVal [V]3146
16485218500 rs1392898485 N.D. missenseAAsp [D]2146
missenseGGly [G]2146
contig referenceTVal [V]2146
16485225493 rs1271240341 N.D. missenseTPhe [F]1144
contig referenceGVal [V]1144
16485233485 rs775271709 0.000 missenseCThr [T]2141
contig referenceTIle [I]2141
16485235483 rs1214349143 N.D. missenseAGlu [E]3140
contig referenceTAsp [D]3140
16485237481 rs762455628 0.000byFreq missenseAAsn [N]1140
missenseTTyr [Y]1140
contig referenceGAsp [D]1140
16485238480 rs1484979590 N.D. synonymousCPhe [F]3139
contig referenceTPhe [F]3139
16485247471 rs1046834597 N.D. missenseGMet [M]3136
contig referenceTIle [I]3136
16485248470 rs903597980 N.D. missenseCThr [T]2136
contig referenceTIle [I]2136
16485249469 rs1420658492 N.D. missenseGVal [V]1136
contig referenceAIle [I]1136
16485252466 rs143932873 0.000byClusterbyFreq YesmissenseAAsn [N]1135
contig referenceGAsp [D]1135
16485253465 rs750997835 0.000byFreq synonymousGPro [P]3134
synonymousTPro [P]3134
contig referenceCPro [P]3134
16485254464 rs1420584636 N.D. missenseTLeu [L]2134
contig referenceCPro [P]2134
16485257461 rs1462437134 N.D. missenseAGlu [E]2133
contig referenceGGly [G]2133
16490367460 rs766228047 0.000 nonsenseT1133
contig referenceGGly [G]1133
16490372455 rs1232176242 N.D. missenseALys [K]2131
contig referenceTMet [M]2131
16490376451 rs753527738 0.000byFreq missenseGVal [V]1130
contig referenceAIle [I]1130
16490383444 rs3810198 0.419byClusterbyFreqWith1000GenomeData0.3411 YessynonymousAGln [Q]3127
contig referenceGGln [Q]3127
16490386441 rs374869347 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousASer [S]3126
contig referenceGSer [S]3126
16490387440 rs752960232 0.000 missenseTLeu [L]2126
contig referenceCSer [S]2126
16490397430 rs758610313 0.000 missenseGAsp [D]1123
contig referenceAAsn [N]1123
16490401426 rs777941952 0.000 missenseGLys [K]3121
contig referenceCAsn [N]3121
16490405422 rs890409463 N.D. missenseGArg [R]2120
contig referenceALys [K]2120
16490408419 rs946376334 N.D. missenseGArg [R]2119
contig referenceAGln [Q]2119
16490415412 rs1209076661 N.D. missenseGVal [V]1117
missenseTPhe [F]1117
contig referenceAIle [I]1117
16490416411 rs1400607937 N.D. synonymousTAsp [D]3116
contig referenceCAsp [D]3116
16490422405 rs1043458161 N.D. synonymousGPro [P]3114
contig referenceTPro [P]3114
16490423404 rs1282894270 N.D. missenseAHis [H]2114
contig referenceCPro [P]2114
16490425402 rs1226382801 N.D. synonymousCPhe [F]3113
contig referenceTPhe [F]3113
16490428399 rs185241971 0.000byClusterWith1000GenomeData0.0002 YessynonymousGVal [V]3112
synonymousTVal [V]3112
contig referenceCVal [V]3112
16490429398 rs757803093 0.000 missenseCAla [A]2112
contig referenceTVal [V]2112
16490432395 rs1157460862 N.D. frame shift-Arg [R]2111
contig referenceALys [K]2111
16490433394 rs1471394443 N.D. missenseGGlu [E]1111
contig referenceALys [K]1111
16490438389 rs781640024 0.000 missenseGCys [C]2109
contig referenceATyr [Y]2109
16490441386 rs139061471 0.000byClusterbyFreq YesmissenseCAla [A]2108
contig referenceGGly [G]2108
16490445382 rs770166604 0.000 missenseTTrp [W]1107
contig referenceGGly [G]1107
16490446381 rs773929973 0.000 synonymousCGly [G]3106
contig referenceAGly [G]3106
16490450377 rs747738664 0.000 missenseATyr [Y]2105
missenseCSer [S]2105
contig referenceGCys [C]2105
16490451376 rs1036223811 N.D. missenseGGly [G]1105
contig referenceTCys [C]1105
16490452375 rs771571508 0.000byFreq missenseAGlu [E]3104
contig referenceCAsp [D]3104
16490455372 rs772666036 0.000 missenseAIle [I]3103
contig referenceGMet [M]3103
16490456371 rs760627206 0.000 missenseGArg [R]2103
contig referenceTMet [M]2103
16490457370 rs1290615448 N.D. missenseTLeu [L]1103
contig referenceAMet [M]1103
16490461366 rs1327958265 N.D. synonymousAGln [Q]3101
contig referenceGGln [Q]3101
16490466361 rs766276146 0.000byFreq missenseALys [K]1100
contig referenceGGlu [E]1100
16490473354 rs1056692608 N.D. synonymousGVal [V]397
contig referenceAVal [V]397
16490476351 rs746722802 0.000byCluster frame shift-397
contig referenceAVal [V]397
16490476351 rs1280202636 N.D. synonymousGThr [T]396
contig referenceAThr [T]396
16490478349 rs1370414096 N.D. missenseCPro [P]196
contig referenceAThr [T]196
16490479348 rs898889125 N.D. nonsenseG395
contig referenceCTyr [Y]395
16490482345 rs1232339957 N.D. missenseTHis [H]394
contig referenceGGln [Q]394
16490489338 rs1490356282 N.D. missenseAAsp [D]292
contig referenceTVal [V]292
16490490337 rs776598394 0.000 missenseCLeu [L]192
contig referenceGVal [V]192
16490491336 rs759314483 0.000 synonymousCLeu [L]391
contig referenceGLeu [L]391
16490493334 rs765069343 0.000 synonymousTLeu [L]191
contig referenceCLeu [L]191
16490496331 rs200449193 0.000byClusterWith1000GenomeData0.0002 YesmissenseCPro [P]190
contig referenceAThr [T]190
16490508319 rs1253922686 N.D. missenseTTyr [Y]186
contig referenceAAsn [N]186
16490515312 rs570064234 0.000byFreq synonymousAPro [P]383
contig referenceGPro [P]383
16490516311 rs764305082 0.000byFreq missenseTLeu [L]283
contig referenceCPro [P]283
16490517310 rs751645170 0.000 missenseGAla [A]183
contig referenceCPro [P]183
16490521306 rs201321577 0.000byClusterbyFreq YessynonymousTPhe [F]381
contig referenceCPhe [F]381
16490525302 rs746369368 0.000byClusterbyFreq missenseAHis [H]280
contig referenceGArg [R]280
16490526301 rs756445681 0.000byFreq missenseTCys [C]180
contig referenceCArg [R]180
16490530297 rs962663753 N.D. synonymousCSer [S]378
contig referenceTSer [S]378
16490533294 rs770476504 0.000 frame shift-Leu [L]378
contig referenceCSer [S]378
16490540287 rs780394746 0.000byFreq missenseGCys [C]275
contig referenceATyr [Y]275
16490545282 rs747826402 0.000 synonymousGArg [R]373
contig referenceAArg [R]373
16490546281 rs372657559 0.000byClusterbyFreq YesmissenseAGln [Q]273
contig referenceGArg [R]273
16490547280 rs199561391 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT173
missenseGGly [G]173
contig referenceCArg [R]173
16490548279 rs577809057 0.000byCluster synonymousTGly [G]372
contig referenceCGly [G]372
16490549278 rs182376945 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAAsp [D]272
contig referenceGGly [G]272
16490552275 rs369859530 0.000byCluster YesmissenseGSer [S]271
contig referenceAAsn [N]271
16490557270 rs1226974530 N.D. synonymousAThr [T]369
contig referenceTThr [T]369
16490559268 rs1268785587 N.D. missenseTSer [S]169
contig referenceAThr [T]169
16490564263 rs150907410 0.000byCluster YesmissenseGArg [R]267
contig referenceAGln [Q]267
16490565262 rs775385558 0.000 nonsenseT167
contig referenceCGln [Q]167
16490570257 rs764572647 N.D. missenseAAsp [D]265
contig referenceGGly [G]265
16495751255 rs1430239846 N.D. frame shiftAArg [R]365
contig reference-Gly [G]365
16495755252 rs201304731 0.002byCluster YesmissenseGGlu [E]363
contig referenceTAsp [D]363
16495764242 rs1359761399 N.D. frame shift-Arg [R]260
contig referenceAALys [K]260
16495766241 rs1255087190 N.D. missenseCGln [Q]160
contig referenceALys [K]160
16495769238 rs1453203521 N.D. missenseGAsp [D]159
contig referenceCHis [H]159
16495771236 rs1156914746 N.D. missenseTVal [V]258
contig referenceGGly [G]258
16495774233 rs138350128 0.000byCluster YesmissenseGCys [C]257
contig referenceATyr [Y]257
16495775232 rs368523051 0.000byCluster YesmissenseCHis [H]157
contig referenceTTyr [Y]157
16495778229 rs201808529 0.000byClusterWith1000GenomeData0.0002 YesmissenseCLeu [L]156
contig referenceTPhe [F]156
16495780227 rs1354034080 N.D. missenseGArg [R]255
contig referenceALys [K]255
16495781226 rs766911825 0.000byFreq missenseGGlu [E]155
contig referenceALys [K]155
16495782225 rs1258801976 N.D. synonymousTGly [G]354
contig referenceCGly [G]354
16495783224 rs147300344 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsp [D]254
contig referenceGGly [G]254
16495785222 rs372912264 0.000byClusterbyFreq YessynonymousASer [S]353
contig referenceGSer [S]353
16495788219 rs779192527 0.000byFreq synonymousASer [S]352
contig referenceGSer [S]352
16495789218 rs1258436994 N.D. missenseGTrp [W]252
contig referenceCSer [S]252
16495792215 rs751176255 0.000 missenseGArg [R]251
contig referenceTLeu [L]251
16495796211 rs908717606 N.D. missenseGGly [G]150
contig referenceAArg [R]150
16495801205 rs796485123 N.D. frame shiftAGln [Q]148
contig reference-His [H]148
16495802205 rs556663033 0.000byClusterbyFreq missenseTTyr [Y]148
contig referenceCHis [H]148
16495804203 rs940231786 N.D. missenseAGlu [E]247
contig referenceGGly [G]247
16495805202 rs1279334739 N.D. missenseCArg [R]147
contig referenceGGly [G]147
16495807200 rs780590548 0.000 missenseCSer [S]246
contig referenceTPhe [F]246
16495809198 rs1220152014 N.D. synonymousGArg [R]345
contig referenceAArg [R]345
16495810197 rs1212903941 N.D. missenseAGln [Q]245
contig referenceGArg [R]245
16495812195 rs1256708162 N.D. synonymousTSer [S]344
contig referenceCSer [S]344
16495816191 rs1373738523 N.D. missenseGGly [G]243
contig referenceAAsp [D]243
16495817190 rs745435624 0.000 missenseAAsn [N]143
contig referenceGAsp [D]143
16495819188 rs149634686 0.001byClusterbyFreqWith1000GenomeData0.0018 YesmissenseGSer [S]242
contig referenceAAsn [N]242
16495822185 rs1365672007 N.D. missenseTIle [I]241
contig referenceCThr [T]241
16495825182 rs945443284 N.D. missenseTPhe [F]240
contig referenceCSer [S]240
16495831176 rs780211279 0.000byFreq missenseGTrp [W]238
contig referenceTLeu [L]238
16495833174 rs1173294411 N.D. nonsenseA337
contig referenceGTrp [W]337
16495834173 rs749228587 0.000 nonsenseA237
contig referenceGTrp [W]237
16495836171 rs1436918443 N.D. synonymousTArg [R]336
contig referenceAArg [R]336
16495838169 rs1313904577 N.D. missenseGGly [G]136
contig referenceCArg [R]136
16495847160 rs1396322901 N.D. missenseGGly [G]133
contig referenceTTrp [W]133
16495848159 rs144355944 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCHis [H]332
contig referenceTHis [H]332
16495851156 rs1463413854 N.D. synonymousAGlu [E]331
contig referenceGGlu [E]331
16496039154 rs1009154056 N.D. missenseALys [K]131
contig referenceGGlu [E]131
16496042151 rs1261432653 N.D. nonsenseT130
missenseAArg [R]130
contig referenceGGly [G]130
16496043150 rs773541894 0.000 synonymousTAsp [D]329
contig referenceCAsp [D]329
16496048145 rs747141034 0.000 missenseGVal [V]128
synonymousTLeu [L]128
contig referenceCLeu [L]128
16496052141 rs1424913089 N.D. synonymousGGlu [E]326
contig referenceAGlu [E]326
16496056137 rs1017470380 N.D. missenseGGly [G]225
contig referenceAGlu [E]225
16496061132 rs1451906183 N.D. missenseALeu [L]323
contig referenceCPhe [F]323
16496065128 rs964981557 N.D. missenseGCys [C]222
contig referenceATyr [Y]222
16496067126 rs1163504118 N.D. synonymousGVal [V]321
contig referenceCVal [V]321
16496069124 rs776652603 0.000 missenseAIle [I]121
contig referenceGVal [V]121
16496070123 rs370721650 0.002byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]320
synonymousGThr [T]320
synonymousTThr [T]320
contig referenceCThr [T]320
16496071122 rs1293805638 N.D. missenseTIle [I]220
contig referenceCThr [T]220
16496075118 rs763443484 0.000 missenseTSer [S]119
contig referenceGAla [A]119
16496076117 rs1380273758 N.D. synonymousCLeu [L]318
contig referenceGLeu [L]318
16496078115 rs1279865482 N.D. synonymousTLeu [L]118
contig referenceCLeu [L]118
16496089104 rs1488813763 N.D. missenseGArg [R]214
contig referenceTLeu [L]214
16496090103 rs1340987874 N.D. synonymousTLeu [L]114
contig referenceCLeu [L]114
16496091102 rs1022237662 N.D. missenseAIle [I]313
missenseTIle [I]313
contig referenceGMet [M]313
1649609598 rs1271345238 N.D. missenseATyr [Y]212
contig referenceGCys [C]212
1649609697 rs764357332 0.000byFreq missenseCArg [R]112
missenseGGly [G]112
contig referenceTCys [C]112
1649609796 rs966696487 N.D. missenseGMet [M]311
contig referenceAIle [I]311
1649609994 rs755784741 0.000 missenseGVal [V]111
contig referenceAIle [I]111
1649610093 rs762852375 N.D. synonymousTAla [A]310
contig referenceCAla [A]310
1649610192 rs766005088 0.000 missenseTVal [V]210
contig referenceCAla [A]210
1649610291 rs3810201 0.000byCluster missenseAThr [T]110
contig referenceGAla [A]110
1649610489 rs754504178 0.000byCluster missenseTLeu [L]29
contig referenceGTrp [W]29
1649610687 rs1188580969 N.D. synonymousGLeu [L]38
synonymousTLeu [L]38
contig referenceCLeu [L]38
1649610885 rs11544148 0.000 missenseTPhe [F]18
contig referenceCLeu [L]18
1649610984 rs201886703 0.000byClusterbyFreq missenseCHis [H]37
missenseTHis [H]37
contig referenceGGln [Q]37
1649611083 rs538611499 0.000With1000GenomeData0.0002 missenseCPro [P]27
contig referenceAGln [Q]27
1649611281 rs777364731 0.000 synonymousGVal [V]36
synonymousTVal [V]36
contig referenceCVal [V]36
1649611380 rs1414994481 N.D. missenseCAla [A]26
contig referenceTVal [V]26
1649611479 rs747264355 0.000byFreq missenseAIle [I]16
contig referenceGVal [V]16
1649611875 rs1268941148 N.D. synonymousAAla [A]34
contig referenceTAla [A]34
1649612172 rs1164903097 N.D. synonymousAArg [R]33
contig referenceGArg [R]33
1649612271 rs1344171366 N.D. missenseAGln [Q]23
contig referenceGArg [R]23
1649612370 rs948846114 N.D. missenseGGly [G]13
contig referenceCArg [R]13
1649612568 rs1299794483 N.D. missenseGGly [G]22
contig referenceCAla [A]22
1649612766 rs771093368 0.000 missenseTIle [I]31
contig referenceGMet [M]31
1649612964 rs776813962 0.000byFreq missenseTLeu [L]11
contig referenceAMet [M]11