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dbSNP

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SNP linked to Gene (geneID:1269) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017000261.1minus strandXP_016855750.1reverseNT_032977.10GRCh38.p7<- currently shown
XM_011540629.2minus strandXP_011538931.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001841.2minus strandNP_001832.1reverseNT_032977.10GRCh38.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_032977.10XM_017000261.1XP_016855750.1reverseminus 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
238745361209 rs1252107281 N.D. synonymousA2361
contig referenceG2361
238745381207 rs758031503 0.000byClusterbyFreq frame shift-Asp [D]3361
contig referenceC3361
238745381207 rs1426752059 N.D. synonymousTCys [C]3360
contig referenceCCys [C]3360
238745391206 rs1000489968 N.D. missenseTPhe [F]2360
contig referenceGCys [C]2360
238745411204 rs1180172050 N.D. synonymousCAsp [D]3359
contig referenceTAsp [D]3359
238745441201 rs1421732343 N.D. synonymousCSer [S]3358
contig referenceTSer [S]3358
238745491196 rs148142264 0.000byClusterbyFreq missenseTPhe [F]1357
contig referenceCLeu [L]1357
238745551190 rs201487654 0.000byCluster synonymousTLeu [L]1355
contig referenceCLeu [L]1355
238745571188 rs1330595940 N.D. missenseGGly [G]2354
contig referenceAAsp [D]2354
238745581187 rs199599665 0.000byClusterbyFreq missenseCHis [H]1354
contig referenceGAsp [D]1354
238745631182 rs191952641 0.000byClusterWith1000GenomeData0.0002 missenseGCys [C]2352
contig referenceCSer [S]2352
238745701175 rs1426500834 N.D. missenseTSer [S]1350
contig referenceCPro [P]1350
238745741171 rs200225926 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAPro [P]3348
contig referenceGPro [P]3348
238745751170 rs200710174 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2348
contig referenceCPro [P]2348
238745771168 rs578041043 0.000With1000GenomeData0.0002 synonymousAThr [T]3347
contig referenceTThr [T]3347
238745791166 rs1237637123 N.D. missenseGAla [A]1347
contig referenceAThr [T]1347
238745811164 rs1334308910 N.D. missenseCThr [T]2346
contig referenceTIle [I]2346
238745851160 rs183583549 0.000byClusterWith1000GenomeData0.0002 missenseGGlu [E]1345
contig referenceALys [K]1345
238745871158 rs201546828 N.D. missenseAGlu [E]2344
contig referenceGGly [G]2344
238745941151 rs778618350 N.D. missenseAThr [T]1342
contig referenceGAla [A]1342
238745951150 rs745782815 0.000 synonymousAGlu [E]3341
contig referenceGGlu [E]3341
238745951149 rs779746814 0.000 frame shift-Gly [G]2341
contig referenceAGGlu [E]2341
238745971148 rs1317764755 N.D. missenseALys [K]1341
contig referenceGGlu [E]1341
238746001145 rs1285005660 N.D. missenseTSer [S]1340
contig referenceAThr [T]1340
238746031142 rs541088933 0.000byClusterWith1000GenomeData0.0002 nonsenseT1339
missenseALys [K]1339
contig referenceGGlu [E]1339
238746041141 rs2229581 0.472byClusterbyFreqwith2hitWith1000GenomeData0.3462 synonymousAThr [T]3338
synonymousGThr [T]3338
synonymousTThr [T]3338
contig referenceCThr [T]3338
238746051140 rs199612016 0.000byClusterbyFreq missenseTIle [I]2338
contig referenceCThr [T]2338
238746131132 rs1197456429 N.D. synonymousTSer [S]3335
contig referenceCSer [S]3335
238746141131 rs761421274 0.000 missenseTPhe [F]2335
contig referenceCSer [S]2335
238746191126 rs2229580 0.472byClusterbyFreqWith1000GenomeData0.3466 synonymousAPro [P]3333
contig referenceGPro [P]3333
238746201125 rs201633175 0.000byCluster missenseGArg [R]2333
missenseTLeu [L]2333
contig referenceCPro [P]2333
238746241121 rs200157579 N.D.byCluster missenseTSer [S]1332
contig referenceGAla [A]1332
238746241119 rs1461776388 N.D. -2331
238746251120 rs187686608 0.000byClusterWith1000GenomeData0.0002 synonymousGGlu [E]3331
contig referenceAGlu [E]3331
238746281117 rs368692272 0.000byCluster missenseCAsp [D]3330
contig referenceAGlu [E]3330
238746291116 rs1168010488 N.D. missenseCAla [A]2330
contig referenceAGlu [E]2330
238746301115 rs372132839 0.000byClusterbyFreq missenseALys [K]1330
contig referenceGGlu [E]1330
238746351110 rs751574405 0.000byFreq missenseTVal [V]2328
contig referenceCAla [A]2328
238746361109 rs201819496 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]1328
missenseTSer [S]1328
contig referenceGAla [A]1328
238746371108 rs985148888 N.D. missenseCAsp [D]3327
contig referenceGGlu [E]3327
238746431102 rs1403518767 N.D. synonymousCGly [G]3325
contig referenceGGly [G]3325
238746441101 rs781339227 0.000 missenseAGlu [E]2325
contig referenceGGly [G]2325
238746451100 rs752937607 0.000 missenseAArg [R]1325
missenseCArg [R]1325
contig referenceGGly [G]1325
238746471098 rs988922624 N.D. missenseCPro [P]2324
contig referenceTLeu [L]2324
238746501095 rs962859442 N.D. missenseCAla [A]2323
contig referenceGGly [G]2323
238746571088 rs1469867086 N.D. missenseAMet [M]1321
contig referenceGVal [V]1321
238746581087 rs201088433 N.D. YesnonsenseA3320
contig referenceTCys [C]3320
238746591086 rs201974899 0.000byClusterbyFreq YesmissenseATyr [Y]2320
contig referenceGCys [C]2320
238746601085 rs778764026 0.000 missenseCArg [R]1320
contig referenceTCys [C]1320
238746611084 rs761834077 N.D. missenseCAsn [N]3319
contig referenceGLys [K]3319
238746701075 rs1297078175 N.D. synonymousTHis [H]3316
contig referenceCHis [H]3316
238746721073 rs2229579 0.176byClusterbyFreqWith1000GenomeData0.1074 YesmissenseAAsn [N]1316
missenseAAsn [N]1316
missenseTTyr [Y]1316
missenseTTyr [Y]1316
contig referenceCHis [H]1316
contig referenceCHis [H]1316
238746741071 rs375133736 0.000byClusterbyFreq YesmissenseTVal [V]2315
contig referenceCAla [A]2315
238746791066 rs201210941 0.005byClusterbyFreqWith1000GenomeData0.0040 YesmissenseGTrp [W]3313
synonymousTCys [C]3313
contig referenceCCys [C]3313
238746801065 rs550621200 0.000With1000GenomeData0.0002 missenseATyr [Y]2313
contig referenceGCys [C]2313
238746891056 rs923029792 N.D. missenseGGly [G]2310
missenseTVal [V]2310
contig referenceCAla [A]2310
238746901055 rs954473721 N.D. missenseCPro [P]1310
contig referenceGAla [A]1310
238746941051 rs1161829842 N.D. synonymousTSer [S]3308
contig referenceCSer [S]3308
238746951050 rs776045128 0.000 missenseTPhe [F]2308
contig referenceCSer [S]2308
238746971048 rs563535687 0.000byCluster synonymousGArg [R]3307
contig referenceCArg [R]3307
238746981047 rs148656213 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAHis [H]2307
missenseTLeu [L]2307
contig referenceGArg [R]2307
238746991046 rs773572627 0.000byFreq missenseGGly [G]1307
missenseTCys [C]1307
contig referenceCArg [R]1307
238747021043 rs766834385 0.000 missenseGVal [V]1306
missenseTPhe [F]1306
contig referenceAIle [I]1306
238747041041 rs1367351756 N.D. missenseGGly [G]2305
contig referenceAGlu [E]2305
238747051040 rs752079780 0.000byFreq missenseALys [K]1305
contig referenceGGlu [E]1305
238747111034 rs1197100282 N.D. missenseGGly [G]1303
contig referenceASer [S]1303
238747131032 rs191065191 N.D.With1000GenomeData YesmissenseAGln [Q]2302
contig referenceGArg [R]2302
238747141031 rs760083242 0.000 missenseTTrp [W]1302
contig referenceCArg [R]1302
238747161029 rs1352877241 N.D. missenseCPro [P]2301
contig referenceTLeu [L]2301
238747191026 rs202124598 N.D. YesmissenseTVal [V]2300
contig referenceCAla [A]2300
238747231022 rs1307692881 N.D. missenseCHis [H]1299
contig referenceTTyr [Y]1299
238747251020 rs1178172933 N.D. missenseAAsn [N]2298
contig referenceTIle [I]2298
238747291016 rs144980121 0.000byCluster YesmissenseAIle [I]1297
contig referenceGVal [V]1297
238747331012 rs201166922 0.000byCluster YessynonymousTAsn [N]3295
contig referenceCAsn [N]3295
238747361009 rs1390644212 N.D. synonymousTVal [V]3294
contig referenceCVal [V]3294
238747451000 rs1160391158 N.D. missenseALys [K]3291
contig referenceCAsn [N]3291
23874748997 rs756345139 0.000byFreq synonymousTIle [I]3290
contig referenceCIle [I]3290
23874750995 rs764236604 0.000 missenseGVal [V]1290
contig referenceAIle [I]1290
23874755990 rs1319274495 N.D. missenseATyr [Y]2288
contig referenceGCys [C]2288
23874764981 rs201941905 0.000byCluster YesmissenseGCys [C]2285
missenseTPhe [F]2285
contig referenceCSer [S]2285
23874772973 rs2502993 0.472byClusterbyFreqwith2hitWith1000GenomeData0.3466 YessynonymousAAla [A]3282
synonymousCAla [A]3282
contig referenceTAla [A]3282
23874773972 rs1336110702 N.D. missenseTVal [V]2282
contig referenceCAla [A]2282
23874778967 rs1406940573 N.D. synonymousTAla [A]3280
contig referenceCAla [A]3280
23874779966 rs146922938 0.001byClusterbyFreq YesmissenseTVal [V]2280
contig referenceCAla [A]2280
23874781962 rs747511287 0.000byCluster -1279
23874781964 rs1224463229 N.D. synonymousALys [K]3279
contig referenceGLys [K]3279
23874784961 rs746912351 0.000byFreq synonymousALys [K]3278
contig referenceGLys [K]3278
23874793952 rs199680710 0.000byCluster YesmissenseAGlu [E]3275
contig referenceCAsp [D]3275
23874794951 rs780744054 0.000byFreq missenseCAla [A]2275
contig referenceAAsp [D]2275
23874799946 rs1355246357 N.D. synonymousTLeu [L]3273
contig referenceCLeu [L]3273
23874802943 rs200211130 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAThr [T]3272
synonymousCThr [T]3272
synonymousTThr [T]3272
contig referenceGThr [T]3272
23874803942 rs201049279 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTMet [M]2272
contig referenceCThr [T]2272
23874804941 rs1291378690 N.D. missenseTSer [S]1272
contig referenceAThr [T]1272
23874807938 rs371186526 0.000byCluster YesmissenseGAla [A]1271
contig referenceAThr [T]1271
23874809936 rs771259098 0.000 missenseAAsp [D]2270
contig referenceCAla [A]2270
23874822923 rs774735405 0.000byFreq missenseTSer [S]1266
contig referenceGAla [A]1266
23874824921 rs199818268 0.000byClusterbyFreq YesmissenseGArg [R]2265
contig referenceTMet [M]2265
23874828917 rs1258070138 N.D. missenseTPhe [F]1264
contig referenceCLeu [L]1264
23874829916 rs1177342487 N.D. synonymousTAla [A]3263
contig referenceCAla [A]3263
23874831914 rs895889557 N.D. missenseAThr [T]1263
contig referenceGAla [A]1263
23874834911 rs142029962 0.000byClusterbyFreq YessynonymousTLeu [L]1262
contig referenceCLeu [L]1262
23874838907 rs1413863643 N.D. synonymousGPro [P]3260
contig referenceAPro [P]3260
23874839906 rs1454163294 N.D. missenseTLeu [L]2260
contig referenceCPro [P]2260
23874847898 rs1435634157 N.D. synonymousCCys [C]3257
contig referenceTCys [C]3257
23874850894 rs754775722 0.000 frame shiftTGGGGly [G]2257
contig reference-Cys [C]2257
23874852890 rs781130624 0.000 frame shift-Ser [S]1255
contig referenceCTCALeu [L]1255
23874853892 rs1366539747 N.D. synonymousTLeu [L]3255
contig referenceCLeu [L]3255
23874856889 rs111751130 0.500byCluster YessynonymousTLeu [L]3254
contig referenceCLeu [L]3254
23874858887 rs201916611 0.000byClusterbyFreq YesmissenseAIle [I]1254
missenseTPhe [F]1254
contig referenceCLeu [L]1254
23874864881 rs1394295438 N.D. missenseAThr [T]1252
contig referenceGAla [A]1252
23874867878 rs4649124 0.472byClusterbyFreqwith2hitWith1000GenomeData0.3466 YessynonymousCLeu [L]1251
contig referenceTLeu [L]1251
23874868877 rs1356237275 N.D. synonymousTVal [V]3250
contig referenceGVal [V]3250
23874870875 rs764336476 0.000 missenseCLeu [L]1250
contig referenceGVal [V]1250
23874873872 rs887069207 N.D. synonymousTLeu [L]1249
contig referenceCLeu [L]1249
23874874871 rs376013451 0.000byCluster YessynonymousAGly [G]3248
contig referenceGGly [G]3248
23874875870 rs754091476 0.000 missenseAGlu [E]2248
missenseTVal [V]2248
contig referenceGGly [G]2248
23874876869 rs200997121 0.000byClusterbyFreq YesmissenseAArg [R]1248
contig referenceGGly [G]1248
23874886859 rs766274704 0.000 synonymousAAla [A]3244
synonymousGAla [A]3244
contig referenceCAla [A]3244
23874886859 rs1254985245 N.D. frame shift-Arg [R]3245
contig referenceCLys [K]3245
23874887858 rs201829495 0.000byClusterbyFreq YesmissenseAAsp [D]2244
missenseTVal [V]2244
contig referenceCAla [A]2244
23874888857 rs1482465885 N.D. missenseTSer [S]1244
contig referenceGAla [A]1244
23874889856 rs1179895832 N.D. missenseTPhe [F]3243
contig referenceGLeu [L]3243
23874892853 rs780999060 0.000 missenseTSer [S]3242
contig referenceGArg [R]3242
23874893852 rs747658837 0.000 missenseTMet [M]2242
contig referenceGArg [R]2242
23874895850 rs1270436549 N.D. synonymousAVal [V]3241
contig referenceGVal [V]3241
23874897848 rs1436901918 N.D. missenseAMet [M]1241
contig referenceGVal [V]1241
23874903842 rs747652812 N.D. missenseAMet [M]1239
contig referenceCLeu [L]1239
23874911834 rs567833720 0.000byClusterbyFreq missenseAGln [Q]2236
contig referenceGArg [R]2236
23874912833 rs199945476 0.000byClusterbyFreq YesnonsenseT1236
missenseGGly [G]1236
contig referenceCArg [R]1236
23874914831 rs1197908587 N.D. missenseAAsp [D]2235
contig referenceCAla [A]2235
23874915830 rs1442272482 N.D. missenseAThr [T]1235
contig referenceGAla [A]1235
23874920825 rs770633754 0.000 missenseAGlu [E]2233
contig referenceGGly [G]2233
23874921824 rs1016615550 N.D. missenseAArg [R]1233
contig referenceGGly [G]1233
23874925820 rs774682084 0.000 synonymousAVal [V]3231
contig referenceGVal [V]3231
23874926819 rs200979413 0.000byCluster YesmissenseGGly [G]2231
contig referenceTVal [V]2231
23874927818 rs1166557653 N.D. missenseAMet [M]1231
contig referenceGVal [V]1231
23874931814 rs772561621 0.000 synonymousAArg [R]3229
contig referenceGArg [R]3229
23874932813 rs201612710 0.000byCluster YesmissenseALys [K]2229
contig referenceGArg [R]2229
23874934811 rs760759238 0.000byFreq synonymousTAsp [D]3228
contig referenceCAsp [D]3228
23874935810 rs764050301 0.000 missenseGGly [G]2228
contig referenceAAsp [D]2228
23874936809 rs200162708 0.000byClusterbyFreq YesmissenseAAsn [N]1228
contig referenceGAsp [D]1228
23874949796 rs201178693 N.D.byCluster YessynonymousALeu [L]3223
contig referenceGLeu [L]3223
23874952793 rs762114792 0.000 synonymousTSer [S]3222
contig referenceCSer [S]3222
23874957788 rs764328610 N.D. missenseAThr [T]1221
contig referenceGAla [A]1221
23874958787 rs3003336 0.472byClusterbyFreqWith1000GenomeData0.3466 YessynonymousAVal [V]3220
contig referenceGVal [V]3220
23874964781 rs751335953 0.000 missenseTHis [H]3218
contig referenceGGln [Q]3218
23874965780 rs759285584 0.000 missenseGArg [R]2218
contig referenceAGln [Q]2218
23874966779 rs1338529393 N.D. nonsenseT1218
contig referenceCGln [Q]1218
23874968777 rs1330513364 N.D. missenseGArg [R]2217
contig referenceAHis [H]2217
23874970775 rs77065434 0.001byClusterbyFreqWith1000GenomeData0.0026 YessynonymousTAla [A]3216
contig referenceCAla [A]3216
23874971774 rs752550897 0.000byFreq missenseTVal [V]2216
contig referenceCAla [A]2216
23874973772 rs368551029 0.000byCluster YessynonymousALys [K]3215
contig referenceGLys [K]3215
23874978767 rs1202560631 N.D. missenseCArg [R]1214
contig referenceTTrp [W]1214
23874981764 rs1244259465 N.D. missenseTPhe [F]1213
contig referenceCLeu [L]1213
23874982763 rs756112178 0.000 synonymousCVal [V]3212
contig referenceTVal [V]3212
23874985760 rs777141896 0.000 missenseAGln [Q]3211
contig referenceTHis [H]3211
23874986759 rs753400744 0.000 missenseTLeu [L]2211
contig referenceAHis [H]2211
23874990755 rs756844127 0.000 missenseAArg [R]1210
contig referenceGGly [G]1210
23874991754 rs1340782125 N.D. synonymousCTyr [Y]3209
contig referenceTTyr [Y]3209
23874994751 rs1028091092 N.D. synonymousTThr [T]3208
contig referenceCThr [T]3208
23874995750 rs1169817581 N.D. missenseAAsn [N]2208
missenseTIle [I]2208
contig referenceCThr [T]2208
23875001744 rs1427539256 N.D. missenseCThr [T]2206
contig referenceTIle [I]2206
23875003742 rs1339711170 N.D. synonymousAIle [I]3205
contig referenceCIle [I]3205
23875008737 rs201354527 0.000byClusterbyFreq YesmissenseAArg [R]1204
contig referenceGGly [G]1204
23875009736 rs371817276 0.000byClusterbyFreq YessynonymousTSer [S]3203
contig referenceCSer [S]3203
23875010735 rs772344819 0.000 missenseGCys [C]2203
contig referenceCSer [S]2203
23875012733 rs1209223384 N.D. missenseGLeu [L]3202
synonymousCPhe [F]3202
contig referenceTPhe [F]3202
23875018727 rs567693532 0.000byFreqWith1000GenomeData0.0004 synonymousTPhe [F]3200
contig referenceCPhe [F]3200
23875021724 rs1316168609 N.D. synonymousTAla [A]3199
contig referenceCAla [A]3199
23875022723 rs747466044 0.000 missenseGGly [G]2199
missenseTVal [V]2199
contig referenceCAla [A]2199
23875023722 rs142861964 0.000byClusterbyFreq YesmissenseAThr [T]1199
contig referenceGAla [A]1199
23875024721 rs776794893 0.000byFreq synonymousTIle [I]3198
contig referenceCIle [I]3198
23875026719 rs201054712 0.000byClusterWith1000GenomeData0.0002 YesmissenseGVal [V]1198
contig referenceAIle [I]1198
23875027718 rs868220540 N.D. synonymousTPhe [F]3197
contig referenceCPhe [F]3197
23875031714 rs375951786 N.D. YesmissenseCPro [P]2196
contig referenceTLeu [L]2196
23875037708 rs761992110 0.000 nonsenseA2194
contig referenceGTrp [W]2194
23875043702 rs1259208364 N.D. missenseAGln [Q]2192
contig referenceTLeu [L]2192
23875047698 rs770103648 0.000 synonymousTLeu [L]1191
contig referenceCLeu [L]1191
23875048697 rs773596052 0.000byFreq synonymousTTyr [Y]3190
contig referenceCTyr [Y]3190
23875049696 rs763288928 0.000 missenseGCys [C]2190
contig referenceATyr [Y]2190
23875051694 rs1261662034 N.D. synonymousTAsp [D]3189
contig referenceCAsp [D]3189
23875054691 rs1447929681 N.D. synonymousCAsn [N]3188
contig referenceTAsn [N]3188
23875055690 rs1196382257 N.D. missenseGSer [S]2188
contig referenceAAsn [N]2188
23875060685 rs1266995528 N.D. synonymousTIle [I]3186
contig referenceCIle [I]3186
23875061684 rs767181446 0.000 missenseAAsn [N]2186
contig referenceTIle [I]2186
23875065680 rs1320657768 N.D. missenseGVal [V]1185
contig referenceCLeu [L]1185
23875068677 rs1177444347 N.D. missenseTSer [S]1184
contig referenceCPro [P]1184
23875072673 rs139566211 0.000byClusterbyFreq YessynonymousCLeu [L]3182
contig referenceTLeu [L]3182
23875085660 rs1451726101 N.D. missenseTLeu [L]2178
contig referenceCPro [P]2178
23875086659 rs372203029 0.000byClusterbyFreq YesmissenseAThr [T]1178
missenseTSer [S]1178
contig referenceCPro [P]1178
23875087658 rs200288883 N.D. YessynonymousAArg [R]3177
contig referenceGArg [R]3177
23875096649 rs764030142 0.000byFreq synonymousTCys [C]3174
contig referenceCCys [C]3174
23875097648 rs776070030 0.000byCluster missenseATyr [Y]2174
contig referenceGCys [C]2174
23875101644 rs1299861030 N.D. missenseGAla [A]1173
contig referenceAThr [T]1173
23875111634 rs369616011 0.000byCluster YessynonymousTLeu [L]3169
contig referenceCLeu [L]3169
23875114631 rs778488890 0.000 synonymousTPro [P]3168
contig referenceCPro [P]3168
23875117628 rs750020880 0.000 synonymousALeu [L]3167
contig referenceGLeu [L]3167
23875126619 rs758137578 0.000 synonymousGVal [V]3164
synonymousTVal [V]3164
contig referenceCVal [V]3164
23875128617 rs780269365 0.000 missenseAIle [I]1164
contig referenceGVal [V]1164
23875131614 rs1307638165 N.D. missenseAIle [I]1163
contig referenceCLeu [L]1163
23875132613 rs747416117 0.000 synonymousGAla [A]3162
contig referenceAAla [A]3162
23875134611 rs1240581048 N.D. missenseAThr [T]1162
contig referenceGAla [A]1162
23875138607 rs1477509673 N.D. synonymousTLeu [L]3160
contig referenceCLeu [L]3160
23875142603 rs1352082292 N.D. missenseCAla [A]2159
contig referenceTVal [V]2159
23875143602 rs201087852 0.000byCluster YesmissenseTPhe [F]1159
contig referenceGVal [V]1159
23875144601 rs781772998 0.000 nonsenseA3158
missenseTCys [C]3158
contig referenceGTrp [W]3158
23875148597 rs80131168 0.500 YesmissenseGArg [R]2157
contig referenceTMet [M]2157
23875150595 rs966768377 N.D. synonymousTIle [I]3156
contig referenceCIle [I]3156
23875155590 rs769975822 0.000 missenseASer [S]1155
contig referenceGGly [G]1155
23875156589 rs1269752292 N.D. synonymousCLeu [L]3154
contig referenceGLeu [L]3154
23875158587 rs145306214 0.000byCluster YesmissenseGVal [V]1154
contig referenceCLeu [L]1154
23875159586 rs373993382 0.000byClusterbyFreq YessynonymousGThr [T]3153
synonymousTThr [T]3153
contig referenceCThr [T]3153
23875164581 rs1363136054 N.D. missenseAMet [M]1152
contig referenceGVal [V]1152
23875167578 rs775086010 0.000 synonymousTLeu [L]1151
contig referenceCLeu [L]1151
23875176569 rs760521443 0.000 missenseAArg [R]1148
contig referenceGGly [G]1148
23875178567 rs542890327 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2147
contig referenceGArg [R]2147
23875181564 rs1423785471 N.D. missenseTIle [I]2146
contig referenceCThr [T]2146
23875185560 rs1303369295 N.D. missenseTPhe [F]1145
contig referenceCLeu [L]1145
23875187558 rs776572645 0.000 missenseAGln [Q]2144
contig referenceTLeu [L]2144
23875190555 rs200635692 N.D. YesmissenseTVal [V]2143
contig referenceCAla [A]2143
23875191554 rs1170811802 N.D. missenseTSer [S]1143
contig referenceGAla [A]1143
23875191553 rs1389147572 N.D. frame shiftASer [S]3143
contig reference-Ala [A]3143
23875193552 rs201510809 0.000byCluster YesmissenseGArg [R]2142
contig referenceALys [K]2142
23875199546 rs1316722407 N.D. missenseATyr [Y]2140
contig referenceCSer [S]2140
23875201544 rs764723293 0.000byFreq synonymousCPro [P]3139
contig referenceTPro [P]3139
23875203542 rs750007574 0.000 missenseAThr [T]1139
contig referenceCPro [P]1139
23875208537 rs757932522 0.000 missenseGCys [C]2137
contig referenceATyr [Y]2137
23875211534 rs199631465 0.000byClusterbyFreq YesmissenseAHis [H]2136
contig referenceGArg [R]2136
23875212533 rs141989735 0.000byClusterbyFreq YesmissenseTCys [C]1136
contig referenceCArg [R]1136
23875213532 rs916048109 N.D. synonymousTLeu [L]3135
contig referenceGLeu [L]3135
23875215530 rs755418976 0.000 synonymousTLeu [L]1135
contig referenceCLeu [L]1135
23875217528 rs781726068 0.000 missenseATyr [Y]2134
contig referenceGCys [C]2134
23875218527 rs930052487 N.D. missenseCArg [R]1134
contig referenceTCys [C]1134
23875221524 rs41311993 0.007byClusterbyFreqWith1000GenomeData0.0026 YesmissenseAIle [I]1133
contig referenceCLeu [L]1133
23875222523 rs199785089 0.000byClusterbyFreq YesnonsenseA3132
contig referenceCTyr [Y]3132
23875226519 rs199691655 0.000byClusterbyFreq YesmissenseAGln [Q]2131
contig referenceGArg [R]2131
23875227518 rs150233022 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT1131
contig referenceCArg [R]1131
23875231514 rs1006481868 N.D. missenseGMet [M]3129
synonymousCIle [I]3129
contig referenceTIle [I]3129
23875232513 rs770989594 0.000 missenseAAsn [N]2129
contig referenceTIle [I]2129
23875233512 rs201688371 N.D. YesmissenseGVal [V]1129
contig referenceAIle [I]1129
23875234511 rs1165263752 N.D. synonymousTAla [A]3128
contig referenceCAla [A]3128
23875236509 rs774664120 0.000 missenseAThr [T]1128
missenseTSer [S]1128
contig referenceGAla [A]1128
23875237508 rs182168081 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTThr [T]3127
contig referenceCThr [T]3127
23875243502 rs768416819 0.000byFreq synonymousALeu [L]3125
contig referenceGLeu [L]3125
23875246487 rs748062853 0.000 frame shift-Cys [C]3121
contig reference(13bp)Val [V]3121
23875246499 rs776450616 0.000 synonymousTLeu [L]3124
contig referenceCLeu [L]3124
23875249496 rs1313542190 N.D. synonymousTSer [S]3123
contig referenceCSer [S]3123
23875252493 rs1319441513 N.D. synonymousCGly [G]3122
contig referenceTGly [G]3122
23875253492 rs1233888905 N.D. missenseAAsp [D]2122
contig referenceGGly [G]2122
23875261484 rs761725003 0.000 synonymousAAla [A]3119
contig referenceCAla [A]3119
23875262483 rs765174269 0.000 missenseAAsp [D]2119
contig referenceCAla [A]2119
23875264481 rs1267434967 N.D. synonymousCThr [T]3118
contig referenceAThr [T]3118
23875266479 rs1315215453 N.D. missenseGAla [A]1118
contig referenceAThr [T]1118
23875268477 rs772531845 0.000 missenseCSer [S]2117
contig referenceTPhe [F]2117
23875270475 rs1267256124 N.D. synonymousAThr [T]3116
contig referenceCThr [T]3116
23875278467 rs762556883 0.000 missenseCPro [P]1114
contig referenceAThr [T]1114
23875281464 rs527797875 0.000byCluster missenseAMet [M]1113
contig referenceGVal [V]1113
23875282463 rs142210955 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTSer [S]3112
contig referenceCSer [S]3112
23875284461 rs1244080724 N.D. missenseCArg [R]1112
contig referenceASer [S]1112
23875287458 rs754722865 0.000byFreq missenseASer [S]1111
contig referenceGGly [G]1111
23875288457 rs767985981 0.000byFreq missenseGMet [M]3110
contig referenceTIle [I]3110
23875289456 rs139756160 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseCThr [T]2110
contig referenceTIle [I]2110
23875294451 rs756628656 0.000 synonymousTLeu [L]3108
contig referenceGLeu [L]3108
23875296449 rs1415648685 N.D. synonymousTLeu [L]1108
contig referenceCLeu [L]1108
23875297448 rs1426526060 N.D. synonymousALeu [L]3107
contig referenceGLeu [L]3107
23875299446 rs200980366 N.D. YessynonymousTLeu [L]1107
contig referenceCLeu [L]1107
23875306439 rs1166370305 N.D. synonymousCAla [A]3104
contig referenceTAla [A]3104
23875313432 rs1009950229 N.D. missenseTPhe [F]2102
contig referenceCSer [S]2102
23875316429 rs778345235 0.000 missenseCAla [A]2101
missenseTVal [V]2101
contig referenceAAsp [D]2101
23875318427 rs749285206 0.000byFreq synonymousCVal [V]3100
contig referenceGVal [V]3100
23875324421 rs201802474 0.000byClusterbyFreq YessynonymousCHis [H]398
contig referenceTHis [H]398
23875325420 rs1334169209 N.D. missenseGArg [R]298
contig referenceAHis [H]298
23875327418 rs144279977 0.000byCluster YessynonymousTPhe [F]397
contig referenceCPhe [F]397
23875328417 rs1449343871 N.D. missenseCSer [S]297
contig referenceTPhe [F]297
23875334411 rs746058590 0.000 missenseGArg [R]295
contig referenceAHis [H]295
23875335410 rs866049734 N.D. missenseTTyr [Y]195
contig referenceCHis [H]195
23875336409 rs1488942624 N.D. missenseGLeu [L]394
contig referenceCPhe [F]394
23875344401 rs772338354 0.000 missenseAMet [M]192
missenseCLeu [L]192
contig referenceGVal [V]192
23875345400 rs1265415144 N.D. synonymousCPhe [F]391
contig referenceTPhe [F]391
23875348397 rs776353998 0.000 synonymousTSer [S]390
contig referenceCSer [S]390
23875349396 rs543855954 0.000With1000GenomeData0.0002 missenseAAsn [N]290
contig referenceGSer [S]290
23875351394 rs200068439 N.D. YesnonsenseA389
contig referenceCCys [C]389
23875352393 rs769681479 0.000byFreq missenseATyr [Y]289
contig referenceGCys [C]289
23875353392 rs773226744 0.000 missenseCArg [R]189
contig referenceTCys [C]189
23875354391 rs762850150 0.000 synonymousGAla [A]388
synonymousTAla [A]388
contig referenceAAla [A]388
23875359386 rs955203366 N.D. missenseAIle [I]187
contig referenceTPhe [F]187
23875360385 rs200843149 N.D. YessynonymousTVal [V]386
contig referenceCVal [V]386
23875367378 rs1008131094 N.D. missenseTIle [I]284
contig referenceGSer [S]284
23875368377 rs201650984 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTCys [C]184
contig referenceASer [S]184
23875371374 rs756316007 N.D. missenseTSer [S]183
contig referenceGAla [A]183
23875373372 rs200099315 N.D.byCluster YesmissenseCPro [P]282
contig referenceTLeu [L]282
23875374371 rs1239149850 N.D. synonymousTLeu [L]182
contig referenceCLeu [L]182
23875383362 rs769849565 0.000 frame shift-Leu [L]179
contig referenceGAla [A]179
23875383362 rs1484764426 N.D. missenseAThr [T]179
contig referenceGAla [A]179
23875387358 rs1185784215 N.D. synonymousCAla [A]377
contig referenceTAla [A]377
23875388357 rs1263418042 N.D. missenseTVal [V]277
contig referenceCAla [A]277
23875396349 rs200959861 N.D.byCluster YessynonymousTGly [G]374
contig referenceCGly [G]374
23875398347 rs773803426 0.000 missenseTCys [C]174
contig referenceGGly [G]174
23875400345 rs1427907785 N.D. missenseCThr [T]273
contig referenceTIle [I]273
23875401344 rs1414556125 N.D. missenseGVal [V]173
contig referenceAIle [I]173
23875402343 rs370109088 0.000byClusterbyFreq YessynonymousTPhe [F]372
contig referenceCPhe [F]372
23875405340 rs1344013940 N.D. synonymousALeu [L]371
contig referenceGLeu [L]371
23875408337 rs1021275620 N.D. synonymousTTyr [Y]370
contig referenceCTyr [Y]370
23875410335 rs141481878 0.000byClusterbyFreq YesmissenseCHis [H]170
contig referenceTTyr [Y]170
23875411334 rs201896220 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTSer [S]369
contig referenceASer [S]369
23875415330 rs761149846 0.000 missenseAHis [H]268
contig referenceCPro [P]268
23875420325 rs764457545 0.000 synonymousTArg [R]366
contig referenceGArg [R]366
23875421324 rs61996280 0.007byClusterbyFreqWith1000GenomeData0.0110 YesmissenseAGln [Q]266
contig referenceGArg [R]266
23875422323 rs757744382 0.000byFreq missenseTTrp [W]166
contig referenceCArg [R]166
23875423322 rs779046064 0.000byFreq synonymousTArg [R]365
contig referenceCArg [R]365
23875424321 rs200619419 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]265
contig referenceGArg [R]265
23875425320 rs528804725 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]165
contig referenceCArg [R]165
23875426319 rs1251752951 N.D. synonymousALeu [L]364
contig referenceCLeu [L]364
23875429316 rs2502992 0.472byClusterbyFreqwith2hitWith1000GenomeData0.3460 YessynonymousGGln [Q]363
synonymousGGln [Q]363
contig referenceAGln [Q]363
contig referenceAGln [Q]363
23875429315 rs35761398 N.D.byCluster YesmissenseGGArg [R]263
contig referenceAAGln [Q]263
23875429315 rs879761216 N.D. frame shiftAHis [H]263
frame shiftGArg [R]263
contig referenceAAGln [Q]263
23875430315 rs2501432 0.472byClusterbyFreqwith2hitWith1000GenomeData0.3466 YesmissenseCPro [P]263
missenseCPro [P]263
missenseGArg [R]263
missenseGArg [R]263
contig referenceAGln [Q]263
contig referenceAGln [Q]263
23875431314 rs769611593 0.000byFreq nonsenseT163
missenseALys [K]163
missenseGGlu [E]163
contig referenceCGln [Q]163
23875433312 rs749247846 0.000 missenseGArg [R]262
contig referenceAHis [H]262
23875435310 rs199510108 N.D.byCluster YessynonymousTSer [S]361
contig referenceCSer [S]361
23875436309 rs770828039 0.000byFreq missenseTPhe [F]261
contig referenceCSer [S]261
23875437308 rs1301116696 N.D. missenseCPro [P]161
contig referenceTSer [S]161
23875440305 rs773937494 0.000 missenseCPro [P]160
contig referenceTSer [S]160
23875443302 rs1307295654 N.D. missenseGVal [V]159
contig referenceCLeu [L]159
23875447298 rs759118298 0.000byFreq synonymousALeu [L]357
contig referenceGLeu [L]357
23875451294 rs1444034929 N.D. missenseGCys [C]256
contig referenceATyr [Y]256
23875453292 rs192526527 0.000byClusterWith1000GenomeData0.0002 YessynonymousGLeu [L]355
contig referenceCLeu [L]355
23875454291 rs111832243 0.500 YesmissenseCPro [P]255
contig referenceTLeu [L]255
23875458287 rs1279905726 N.D. missenseAMet [M]154
contig referenceGVal [V]154
23875461284 rs1332210341 N.D. missenseTSer [S]153
contig referenceGAla [A]153
23875464281 rs775303358 0.000byFreq missenseAMet [M]152
missenseTLeu [L]152
contig referenceGVal [V]152
23875465280 rs147653938 0.000byClusterbyFreq YessynonymousTAsn [N]351
contig referenceCAsn [N]351
23875474271 rs1362776556 N.D. synonymousTAla [A]348
contig referenceCAla [A]348
23875477268 rs764487664 0.000 missenseAArg [R]347
contig referenceTSer [S]347
23875478267 rs1302769261 N.D. missenseAAsn [N]247
contig referenceGSer [S]247
23875480265 rs1350755540 N.D. synonymousGLeu [L]346
contig referenceALeu [L]346
23875485260 rs201437984 N.D. YessynonymousTLeu [L]145
contig referenceCLeu [L]145
23875486259 rs199615766 N.D. YessynonymousAGly [G]344
contig referenceCGly [G]344
23875488257 rs200666402 N.D.byCluster YesmissenseASer [S]144
contig referenceGGly [G]144
23875496249 rs950189696 N.D. missenseTIle [I]241
contig referenceCThr [T]241
23875499246 rs754221879 0.000byFreq missenseATyr [Y]240
contig referenceGCys [C]240
23875504241 rs1372725906 N.D. synonymousCVal [V]338
contig referenceGVal [V]338
23875505240 rs1307502753 N.D. missenseCAla [A]238
contig referenceTVal [V]238
23875509236 rs1353512578 N.D. missenseAThr [T]137
contig referenceGAla [A]137
23875512233 rs1350075547 N.D. missenseAIle [I]136
contig referenceGVal [V]136
23875514231 rs1217622625 N.D. missenseAAsp [D]235
contig referenceCAla [A]235
23875515230 rs1274481529 N.D. missenseCPro [P]135
contig referenceGAla [A]135
23875524221 rs1288437535 N.D. nonsenseT132
contig referenceCGln [Q]132
23875527218 rs1239252701 N.D. missenseGAla [A]131
contig referenceCPro [P]131
23875528217 rs762323628 0.000byFreq synonymousAGly [G]330
synonymousCGly [G]330
contig referenceTGly [G]330
23875529216 rs201821646 0.000byClusterbyFreq YesmissenseAAsp [D]230
contig referenceGGly [G]230
23875531214 rs750464246 0.000 missenseAArg [R]329
contig referenceTSer [S]329
23875533212 rs200121304 N.D. YesmissenseCArg [R]129
contig referenceASer [S]129
23875534211 rs758496486 0.000 synonymousALeu [L]328
contig referenceGLeu [L]328
23875537208 rs1451869030 N.D. synonymousTIle [I]327
contig referenceCIle [I]327
23875542203 rs1223341048 N.D. missenseCLeu [L]126
contig referenceAMet [M]126
23875543202 rs149656016 0.000byClusterbyFreq synonymousTTyr [Y]325
contig referenceCTyr [Y]325
23875551194 rs1233783871 N.D. missenseGGlu [E]123
contig referenceALys [K]123
23875552193 rs751752206 0.000 missenseAIle [I]322
contig referenceGMet [M]322
23875554191 rs755226163 0.000byFreq missenseCLeu [L]122
missenseGVal [V]122
contig referenceAMet [M]122
23875557188 rs1382764385 N.D. missenseAThr [T]121
contig referenceCPro [P]121
23875558187 rs1443162077 N.D. synonymousTAsn [N]320
contig referenceCAsn [N]320
23875559186 rs749046000 0.000byFreq missenseGSer [S]220
contig referenceAAsn [N]220
23875560185 rs900368894 N.D. missenseTTyr [Y]120
contig referenceAAsn [N]120
23875565180 rs757147880 0.000 missenseTVal [V]218
contig referenceAAsp [D]218
23875566179 rs1454280416 N.D. missenseTTyr [Y]118
contig referenceGAsp [D]118
23875567178 rs201490624 N.D. synonymousALeu [L]317
contig referenceGLeu [L]317
23875570175 rs376344742 0.000byCluster synonymousAGly [G]316
contig referenceCGly [G]316
23875571174 rs745320779 0.000 missenseTVal [V]216
contig referenceGGly [G]216
23875574171 rs199931185 N.D. missenseGGly [G]215
contig referenceAAsp [D]215
23875578167 rs1368227584 N.D. missenseCGln [Q]114
contig referenceALys [K]114
23875580165 rs201016971 N.D.byCluster missenseGCys [C]213
missenseTPhe [F]213
contig referenceCSer [S]213
23875586159 rs775178577 0.000byFreq missenseGSer [S]211
contig referenceAAsn [N]211
23875591154 rs746669490 0.000 missenseGMet [M]39
contig referenceAIle [I]39
23875592153 rs370749734 0.000byClusterbyFreq missenseCThr [T]29
contig referenceTIle [I]29
23875593152 rs1356820488 N.D. missenseGVal [V]19
missenseTLeu [L]19
contig referenceAIle [I]19
23875594151 rs776987819 0.000 synonymousAGlu [E]38
contig referenceGGlu [E]38
23875600145 rs762116321 0.000byFreq synonymousAVal [V]36
contig referenceGVal [V]36
23875604141 rs202092094 0.000byClusterbyFreq nonsenseA25
contig referenceGTrp [W]25
23875607138 rs773689614 0.000 missenseATyr [Y]24
contig referenceGCys [C]24
23875612133 rs200072375 N.D. synonymousAGlu [E]32
contig referenceGGlu [E]32