NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
SNP linked to Gene (geneID:84107) 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): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_032153.5minus strandNP_115529.2reverseNT_005612.17GRCh38.p7<- currently shown
XM_017007314.1minus strandXP_016862803.1reverseNT_005612.17GRCh38.p7View snp on GeneModel
NM_001243256.1minus strandNP_001230185.1reverseNT_005612.17GRCh38.p7View snp on GeneModel
NM_001168379.1minus strandNP_001161851.1reverseNT_005612.17GRCh38.p7View snp on GeneModel
NM_001168378.1minus strandNP_001161850.1reverseNT_005612.17GRCh38.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_005612.17NM_032153.5NP_115529.2reverseminus strand391, 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
1473909351462 rs372909087 0.000byCluster missenseALys [K]1334
contig referenceGGlu [E]1334
1473909361461 rs770073685 0.000 missenseAArg [R]3333
synonymousTSer [S]3333
contig referenceCSer [S]3333
1473909371460 rs74752526 N.D. missenseAAsn [N]2333
contig referenceGSer [S]2333
1473909381459 rs1278713263 N.D. missenseTCys [C]1333
contig referenceASer [S]1333
1473909391458 rs201874526 0.000byClusterWith1000GenomeData0.0002 synonymousALeu [L]3332
contig referenceGLeu [L]3332
1473909401457 rs995382713 N.D. missenseGTrp [W]2332
contig referenceTLeu [L]2332
1473909401456 rs1320429267 N.D. frame shift-Glu [E]1332
contig referenceTTLeu [L]1332
1473909451452 rs769275045 0.000 frame shift-Thr [T]3331
contig referenceCAsp [D]3331
1473909451452 rs774346537 0.001byClusterbyFreq synonymousAAla [A]3330
synonymousGAla [A]3330
synonymousTAla [A]3330
contig referenceCAla [A]3330
1473909471450 rs775064886 0.000 missenseAThr [T]1330
missenseTSer [S]1330
contig referenceGAla [A]1330
1473909481449 rs760162398 0.000 synonymousAThr [T]3329
synonymousTThr [T]3329
contig referenceCThr [T]3329
1473909491448 rs1274581836 N.D. missenseTIle [I]2329
contig referenceCThr [T]2329
1473909521445 rs763674182 0.000 missenseAHis [H]2328
missenseTLeu [L]2328
contig referenceGArg [R]2328
1473909541443 rs753763075 0.000 synonymousCAla [A]3327
contig referenceGAla [A]3327
1473909551442 rs537155873 0.000byFreqWith1000GenomeData0.0002 missenseTVal [V]2327
contig referenceCAla [A]2327
1473909571440 rs765073929 0.000byFreq synonymousAAla [A]3326
synonymousTAla [A]3326
contig referenceGAla [A]3326
1473909611436 rs78548437 N.D.byCluster missenseGGly [G]2325
contig referenceTVal [V]2325
1473909631434 rs1179413363 N.D. synonymousTAla [A]3324
contig referenceGAla [A]3324
1473909641433 rs1036494828 N.D. missenseAGlu [E]2324
missenseTVal [V]2324
contig referenceCAla [A]2324
1473909651432 rs750290988 0.000 missenseAThr [T]1324
contig referenceGAla [A]1324
1473909661431 rs1197665946 N.D. synonymousCAla [A]3323
contig referenceGAla [A]3323
1473909671430 rs375631022 0.000byClusterWith1000GenomeData0.0002 missenseAGlu [E]2323
missenseGGly [G]2323
missenseTVal [V]2323
contig referenceCAla [A]2323
1473909701427 rs183217537 0.014byClusterbyFreqWith1000GenomeData0.0066 missenseGTrp [W]2322
missenseTLeu [L]2322
contig referenceCSer [S]2322
1473909721425 rs376412853 0.000byClusterbyFreq synonymousTSer [S]3321
contig referenceCSer [S]3321
1473909761421 rs748611771 0.000byFreq missenseAAsp [D]2320
missenseTVal [V]2320
contig referenceCAla [A]2320
1473909771420 rs1346634212 N.D. missenseTSer [S]1320
contig referenceGAla [A]1320
1473909781419 rs773538698 0.000byFreq synonymousAVal [V]3319
contig referenceGVal [V]3319
1473909811416 rs749722637 0.000 missenseCHis [H]3318
contig referenceGGln [Q]3318
1473909831414 rs772310691 N.D. missenseALys [K]1318
contig referenceCGln [Q]1318
1473909841413 rs771742639 0.000 synonymousTSer [S]3317
contig referenceCSer [S]3317
1473909851412 rs965441524 N.D. missenseTPhe [F]2317
contig referenceCSer [S]2317
1473909871410 rs1412923609 N.D. synonymousALys [K]3316
contig referenceGLys [K]3316
1473909941403 rs774948759 0.000 missenseAAsp [D]2314
contig referenceGGly [G]2314
1473909961401 rs1356491297 N.D. synonymousTCys [C]3313
contig referenceCCys [C]3313
1473910011396 rs760382221 0.000 missenseAAsn [N]1312
contig referenceGAsp [D]1312
1473910031394 rs998956801 N.D. missenseTLeu [L]2311
contig referenceCSer [S]2311
1473910041393 rs1270475661 N.D. missenseGAla [A]1311
contig referenceTSer [S]1311
1473910051392 rs768013509 0.000 synonymousCSer [S]3310
synonymousTSer [S]3310
contig referenceGSer [S]3310
1473910061391 rs1404701645 N.D. nonsenseA2310
contig referenceCSer [S]2310
1473910071390 rs1207073080 N.D. missenseAThr [T]1310
contig referenceTSer [S]1310
1473910101387 rs553284685 0.000With1000GenomeData0.0004 missenseTSer [S]1309
contig referenceCPro [P]1309
1473910161381 rs573214910 0.000byFreqWith1000GenomeData0.0002 missenseAMet [M]1307
missenseCLeu [L]1307
missenseTLeu [L]1307
contig referenceGVal [V]1307
1473910171380 rs750237984 0.000 synonymousALeu [L]3306
synonymousTLeu [L]3306
contig referenceCLeu [L]3306
1473910201377 rs762710539 0.000 synonymousAAla [A]3305
contig referenceCAla [A]3305
1473910221375 rs766205699 0.000 missenseAThr [T]1305
contig referenceGAla [A]1305
1473910251372 rs751663167 0.000 missenseAThr [T]1304
contig referenceTSer [S]1304
1473910271370 rs371227174 0.000byClusterbyFreq missenseGArg [R]2303
missenseTLeu [L]2303
contig referenceCPro [P]2303
1473910281369 rs752817308 0.000byFreq missenseAThr [T]1303
missenseGAla [A]1303
missenseTSer [S]1303
contig referenceCPro [P]1303
1473910291368 rs1168978459 N.D. synonymousGThr [T]3302
contig referenceAThr [T]3302
1473910311366 rs749816047 0.000 missenseGAla [A]1302
contig referenceAThr [T]1302
1473910341363 rs1412829311 N.D. missenseAThr [T]1301
contig referenceGAla [A]1301
1473910351362 rs771134809 0.000byFreq synonymousASer [S]3300
synonymousCSer [S]3300
synonymousTSer [S]3300
contig referenceGSer [S]3300
1473910361361 rs75650531 0.000byFreqWith1000GenomeData0.0002 missenseGTrp [W]2300
missenseTLeu [L]2300
contig referenceCSer [S]2300
1473910371359 rs1210124282 N.D. ACACCG [TP]3299
1473910381358 rs776913046 0.000byFreq frame shift-Val [V]2299
contig referenceATAsp [D]2299
1473910391358 rs1267979469 N.D. frame shift-Val [V]2299
contig referenceAAsp [D]2299
1473910391358 rs1363632903 N.D. missenseCAla [A]2299
missenseTVal [V]2299
contig referenceAAsp [D]2299
1473910401356 rs762209325 0.000byFreq frame shiftCArg [R]3299
contig reference-Asp [D]3299
1473910411356 rs563935904 0.000byFreqWith1000GenomeData0.0002 nonsenseG3298
synonymousTTyr [Y]3298
contig referenceCTyr [Y]3298
1473910421354 rs765482543 0.000byFreq frame shift(7bp)Trp [W]1298
contig reference-Tyr [Y]1298
1473910421355 rs953296097 N.D. missenseGCys [C]2298
contig referenceATyr [Y]2298
1473910451352 rs958350424 N.D. missenseCAla [A]2297
contig referenceGGly [G]2297
1473910471350 rs1228282778 N.D. synonymousCSer [S]3296
contig referenceTSer [S]3296
1473910511346 rs761481085 0.000 missenseAAsn [N]2295
contig referenceGSer [S]2295
1473910541343 rs769840851 0.000 missenseTLeu [L]2294
contig referenceCPro [P]2294
1473910561341 rs532932300 0.000With1000GenomeData0.0002 synonymousTPro [P]3293
contig referenceGPro [P]3293
1473910601337 rs762947769 0.000byFreq missenseTLeu [L]2292
contig referenceCPro [P]2292
1473910631334 rs916708888 N.D. missenseTLeu [L]2291
contig referenceCSer [S]2291
1473910641333 rs1240492814 N.D. missenseCPro [P]1291
contig referenceTSer [S]1291
1473910661331 rs766045409 0.000 missenseAHis [H]2290
contig referenceGArg [R]2290
1473910671330 rs1323928433 N.D. missenseTCys [C]1290
contig referenceCArg [R]1290
1473910681329 rs1214900136 N.D. synonymousAGly [G]3289
contig referenceGGly [G]3289
1473910691328 rs780784803 0.000byFreq missenseAGlu [E]2289
missenseTVal [V]2289
contig referenceGGly [G]2289
1473910701327 rs767796917 0.000byFreq missenseCArg [R]1289
missenseTTrp [W]1289
contig referenceGGly [G]1289
1473910711326 rs961981704 N.D. synonymousTHis [H]3288
contig referenceCHis [H]3288
1473910731324 rs1469455359 N.D. missenseTTyr [Y]1288
contig referenceCHis [H]1288
1473910761321 rs756129481 0.000 missenseTLeu [L]1287
contig referenceGVal [V]1287
1473910771320 rs1424667738 N.D. synonymousALys [K]3286
contig referenceGLys [K]3286
1473910821315 rs1172936220 N.D. missenseGVal [V]1285
contig referenceAMet [M]1285
1473910861311 rs368860372 0.000byClusterbyFreq missenseCAsn [N]3283
synonymousALys [K]3283
contig referenceGLys [K]3283
1473910901307 rs754260749 0.000 missenseAHis [H]2282
contig referenceGArg [R]2282
1473910951302 rs75921971 0.003byClusterbyFreqWith1000GenomeData0.0056 synonymousTSer [S]3280
contig referenceGSer [S]3280
1473911071290 rs779123293 0.000 synonymousCThr [T]3276
contig referenceGThr [T]3276
1473911081289 rs746281542 0.000 missenseTMet [M]2276
contig referenceCThr [T]2276
1473911101287 rs754672155 0.000 synonymousTTyr [Y]3275
contig referenceCTyr [Y]3275
1473911161281 rs1182935015 N.D. synonymousALys [K]3273
contig referenceGLys [K]3273
1473911201277 rs377286137 0.000byCluster missenseGGly [G]2272
contig referenceAAsp [D]2272
1473911211276 rs781047867 0.000 missenseAAsn [N]1272
contig referenceGAsp [D]1272
1473911221275 rs1277039663 N.D. synonymousTCys [C]3271
contig referenceCCys [C]3271
1473911251272 rs1202535543 N.D. synonymousTGly [G]3270
contig referenceCGly [G]3270
1473911291268 rs1457897863 N.D. missenseCPro [P]2269
contig referenceGArg [R]2269
1473911321265 rs747813080 0.000 missenseAGlu [E]2268
contig referenceTVal [V]2268
1473911331264 rs769358963 0.000 missenseCLeu [L]1268
missenseTLeu [L]1268
contig referenceGVal [V]1268
1473911401257 rs772877814 0.000 synonymousAThr [T]3265
synonymousTThr [T]3265
contig referenceGThr [T]3265
1473911411256 rs563376019 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]2265
missenseTMet [M]2265
contig referenceCThr [T]2265
1473911421255 rs774015610 0.000byFreq missenseGAla [A]1265
contig referenceAThr [T]1265
1473911451252 rs896918367 N.D. missenseCHis [H]1264
contig referenceTTyr [Y]1264
1473911521245 rs759438364 0.000byFreq missenseAGlu [E]3261
missenseGGlu [E]3261
contig referenceCAsp [D]3261
1473911531244 rs1195264882 N.D. missenseTVal [V]2261
contig referenceAAsp [D]2261
1473911541243 rs1378051779 N.D. missenseAAsn [N]1261
contig referenceGAsp [D]1261
1473911671230 rs775624725 0.000 missenseGGln [Q]3256
contig referenceCHis [H]3256
1473911701227 rs369536221 0.000byCluster YessynonymousASer [S]3255
synonymousTSer [S]3255
contig referenceGSer [S]3255
1473911721225 rs764113088 0.000byFreq missenseAThr [T]1255
contig referenceTSer [S]1255
1473911731224 rs754000514 0.000 synonymousCHis [H]3254
contig referenceTHis [H]3254
1473911841213 rs757672985 0.000byFreq missenseGGly [G]1251
missenseTCys [C]1251
contig referenceCArg [R]1251
1473911881209 rs765838112 0.000byFreq synonymousTSer [S]3249
contig referenceCSer [S]3249
1473911911206 rs750740060 0.000 synonymousTSer [S]3248
contig referenceCSer [S]3248
1473912001197 rs1325919999 N.D. synonymousTPhe [F]3245
contig referenceCPhe [F]3245
1473912051192 rs1332082789 N.D. missenseTCys [C]1244
contig referenceCArg [R]1244
1473912081189 rs1157809811 N.D. synonymousAArg [R]1243
contig referenceCArg [R]1243
1473912091188 rs374265221 0.000byClusterbyFreq YesmissenseCAsp [D]3242
synonymousAGlu [E]3242
contig referenceGGlu [E]3242
1473912121185 rs780565526 0.000byFreq nonsenseA3241
synonymousTCys [C]3241
contig referenceCCys [C]3241
1473912151182 rs1331252016 N.D. synonymousAGly [G]3240
contig referenceCGly [G]3240
1473912191178 rs755850620 0.000 missenseGGly [G]2239
contig referenceAGlu [E]2239
1473912241173 rs777123509 0.000 synonymousAGlu [E]3237
contig referenceGGlu [E]3237
1473912261171 rs1046377357 N.D. missenseALys [K]1237
contig referenceGGlu [E]1237
1473912271170 rs748897692 0.000 nonsenseA3236
contig referenceCCys [C]3236
1473912311166 rs889588155 N.D. missenseTIle [I]2235
contig referenceGArg [R]2235
1473912361161 rs1267736731 N.D. synonymousTPro [P]3233
contig referenceCPro [P]3233
1473912381159 rs770762976 0.000 missenseAThr [T]1233
contig referenceCPro [P]1233
1473912391158 rs1383944886 N.D. synonymousALys [K]3232
contig referenceGLys [K]3232
1473912451152 rs202160569 0.001byClusterbyFreq YessynonymousAGly [G]3230
contig referenceCGly [G]3230
1473958601142 rs769874119 0.000 missenseTIle [I]2227
contig referenceCThr [T]2227
1473958641138 rs773183580 0.000 nonsenseT1226
contig referenceCArg [R]1226
1473958721130 rs1322735678 N.D. missenseALys [K]2223
contig referenceTIle [I]2223
1473958791123 rs1238689715 N.D. missenseTPhe [F]1221
contig referenceCLeu [L]1221
1473958801122 rs763528621 0.000byFreq synonymousCAsn [N]3220
contig referenceTAsn [N]3220
1473958861116 rs1354831673 N.D. synonymousGSer [S]3218
contig referenceASer [S]3218
1473958991103 rs767030906 0.000 missenseAAsp [D]2214
contig referenceTVal [V]2214
1473959001102 rs1291550074 N.D. missenseAIle [I]1214
contig referenceGVal [V]1214
1473959011101 rs751961643 0.000 synonymousALys [K]3213
contig referenceGLys [K]3213
1473959041098 rs759925062 0.000 synonymousAGly [G]3212
contig referenceGGly [G]3212
1473959111091 rs931730914 N.D. missenseTVal [V]2210
contig referenceGGly [G]2210
1473959131089 rs767781944 0.000 synonymousTPro [P]3209
contig referenceGPro [P]3209
1473959141088 rs141247469 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTLeu [L]2209
contig referenceCPro [P]2209
1473959211081 rs756882659 0.000 missenseAThr [T]1207
contig referenceCPro [P]1207
1473959291073 rs1229691545 N.D. missenseATyr [Y]2204
contig referenceTPhe [F]2204
1473959311071 rs1268276698 N.D. synonymousTPro [P]3203
contig referenceCPro [P]3203
1473959341068 rs778465595 0.000byFreq synonymousALys [K]3202
contig referenceGLys [K]3202
1473959371065 rs749977452 0.000 synonymousAGlu [E]3201
contig referenceGGlu [E]3201
1473959391063 rs1245856033 N.D. missenseALys [K]1201
contig referenceGGlu [E]1201
1473959421060 rs1245302153 N.D. missenseASer [S]1200
contig referenceGGly [G]1200
1473959441058 rs1489682970 N.D. missenseTMet [M]2199
contig referenceCThr [T]2199
1473959491053 rs1416071030 N.D. synonymousCVal [V]3197
contig referenceGVal [V]3197
1473959581044 rs369138369 0.000byCluster YessynonymousTHis [H]3194
contig referenceCHis [H]3194
1473959611041 rs1250443365 N.D. synonymousCAsn [N]3193
contig referenceTAsn [N]3193
1473959641038 rs75011808 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTVal [V]3192
contig referenceAVal [V]3192
1473959671035 rs1161444311 N.D. synonymousGLeu [L]3191
contig referenceTLeu [L]3191
1473959781024 rs780022816 0.000 missenseGGlu [E]1188
contig referenceALys [K]1188
1473959811021 rs1173930182 N.D. missenseAThr [T]1187
contig referenceGAla [A]1187
1473959901012 rs746961837 0.000byFreq missenseGAla [A]1184
missenseTSer [S]1184
contig referenceCPro [P]1184
1473959911011 rs1162988956 N.D. synonymousALys [K]3183
contig referenceGLys [K]3183
1473959931009 rs768430279 0.000byFreq missenseGGlu [E]1183
contig referenceALys [K]1183
1473959941008 rs1436935251 N.D. synonymousCGly [G]3182
contig referenceAGly [G]3182
1473959961006 rs780876496 0.000 missenseAArg [R]1182
contig referenceGGly [G]1182
1473959971005 rs1348538250 N.D. synonymousAGln [Q]3181
contig referenceGGln [Q]3181
1473959991003 rs1411640277 N.D. missenseGGlu [E]1181
contig referenceCGln [Q]1181
1473960011001 rs1288394862 N.D. missenseTLeu [L]2180
contig referenceGArg [R]2180
147396003999 rs1333559436 N.D. synonymousAPro [P]3179
contig referenceGPro [P]3179
147396004998 rs1231020134 N.D. missenseAGln [Q]2179
missenseTLeu [L]2179
contig referenceCPro [P]2179
147396005997 rs754923959 0.000byCluster missenseTSer [S]1179
contig referenceCPro [P]1179
147396011991 rs1323812227 N.D. missenseALys [K]1177
contig referenceGGlu [E]1177
147396012990 rs1456744361 N.D. synonymousAGlu [E]3176
contig referenceGGlu [E]3176
147396014988 rs1222766086 N.D. missenseALys [K]1176
contig referenceGGlu [E]1176
147396018984 rs769955104 0.000 missenseGLeu [L]3174
contig referenceCPhe [F]3174
147396023979 rs773391986 0.000 missenseASer [S]1173
contig referenceTCys [C]1173
147396025977 rs763185345 0.000 missenseCThr [T]2172
contig referenceTIle [I]2172
147396026976 rs1252583616 N.D. missenseGVal [V]1172
contig referenceAIle [I]1172
147396027975 rs1474935749 N.D. synonymousTHis [H]3171
contig referenceCHis [H]3171
147396028974 rs771150392 0.000byFreq missenseGArg [R]2171
contig referenceAHis [H]2171
147396034968 rs62001026 0.013byClusterbyFreqWith1000GenomeData0.0032 YesmissenseAAsp [D]2169
missenseGGly [G]2169
missenseTVal [V]2169
contig referenceCAla [A]2169
147396035967 rs1412056938 N.D. missenseAThr [T]1169
contig referenceGAla [A]1169
147396036966 rs767874194 0.000 synonymousAGln [Q]3168
contig referenceGGln [Q]3168
147396037965 rs376055510 0.000byCluster YesmissenseGArg [R]2168
missenseTLeu [L]2168
contig referenceAGln [Q]2168
147396042960 rs556414979 0.000With1000GenomeData0.0002 synonymousAPro [P]3166
synonymousTPro [P]3166
contig referenceGPro [P]3166
147396043959 rs761496589 0.000 missenseTLeu [L]2166
contig referenceCPro [P]2166
147396046956 rs1377210496 N.D. missenseAAsp [D]2165
contig referenceGGly [G]2165
147396047955 rs201622810 0.001byClusterbyFreq YesmissenseASer [S]1165
contig referenceGGly [G]1165
147396048954 rs749920099 0.000 synonymousTGly [G]3164
contig referenceCGly [G]3164
147396050952 rs757845540 0.000 missenseASer [S]1164
contig referenceGGly [G]1164
147396051951 rs1437492053 N.D. synonymousTVal [V]3163
contig referenceCVal [V]3163
147396053949 rs373361660 0.000byClusterbyFreq YesmissenseAIle [I]1163
missenseTPhe [F]1163
contig referenceGVal [V]1163
147396056946 rs751459146 0.000byFreq missenseAAsn [N]1162
contig referenceCHis [H]1162
147396058944 rs754890121 0.000byFreq missenseGGly [G]2161
contig referenceAGlu [E]2161
147396059943 rs781015774 0.000 nonsenseT1161
contig referenceGGlu [E]1161
147396063939 rs894576332 N.D. synonymousGThr [T]3159
synonymousTThr [T]3159
contig referenceCThr [T]3159
147396066936 rs1218058693 N.D. synonymousAVal [V]3158
contig referenceCVal [V]3158
147396069933 rs747930549 0.000 synonymousTHis [H]3157
contig referenceCHis [H]3157
147396072930 rs376509983 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousAThr [T]3156
synonymousCThr [T]3156
synonymousTThr [T]3156
contig referenceGThr [T]3156
147396073929 rs1485667701 N.D. missenseTMet [M]2156
contig referenceCThr [T]2156
147396075927 rs1208090717 N.D. synonymousGVal [V]3155
synonymousTVal [V]3155
contig referenceCVal [V]3155
147396077925 rs749529573 0.000 missenseAIle [I]1155
missenseTPhe [F]1155
contig referenceGVal [V]1155
147396078924 rs771098949 0.000 synonymousALeu [L]3154
contig referenceGLeu [L]3154
147396083919 rs774599861 0.000 missenseALys [K]1153
contig referenceGGlu [E]1153
147396084918 rs746364914 0.000byFreq missenseGGln [Q]3152
synonymousTHis [H]3152
contig referenceCHis [H]3152
147396085917 rs775920052 0.000byClusterbyFreq missenseGArg [R]2152
missenseTLeu [L]2152
contig referenceAHis [H]2152
147396086916 rs1237964882 N.D. missenseAAsn [N]1152
contig referenceCHis [H]1152
147396088914 rs1169068832 N.D. missenseCThr [T]2151
contig referenceTMet [M]2151
147396095907 rs1207921163 N.D. missenseCArg [R]1149
contig referenceASer [S]1149
147396104898 rs764454109 0.000 missenseGGlu [E]1146
contig referenceALys [K]1146
147396113889 rs772784599 0.000byFreq missenseTPhe [F]1143
contig referenceCLeu [L]1143
147396114888 rs1335594303 N.D. synonymousTSer [S]3142
contig referenceCSer [S]3142
147396115887 rs535827867 0.000With1000GenomeData0.0002 missenseCThr [T]2142
contig referenceGSer [S]2142
147396118884 rs200350429 0.000byClusterbyFreq YesmissenseGArg [R]2141
contig referenceCPro [P]2141
147396121881 rs867896521 N.D.byCluster missenseTIle [I]2140
contig referenceCThr [T]2140
147396122880 rs1040475994 N.D. missenseCPro [P]1140
contig referenceAThr [T]1140
147396124878 rs751075986 0.000byFreq missenseAGlu [E]2139
contig referenceCAla [A]2139
147396125877 rs754909718 0.000 missenseAThr [T]1139
missenseTSer [S]1139
contig referenceGAla [A]1139
147396126876 rs373220967 0.000byCluster YessynonymousGThr [T]3138
contig referenceCThr [T]3138
147396130872 rs1451920763 N.D. missenseAAsp [D]2137
contig referenceGGly [G]2137
147396134868 rs1231063687 N.D. missenseTTyr [Y]1136
contig referenceGAsp [D]1136
147396135867 rs999449047 N.D. synonymousAAla [A]3135
contig referenceCAla [A]3135
147396137865 rs767418411 0.000 missenseAThr [T]1135
contig referenceGAla [A]1135
147396138863 rs1344892620 N.D. AAALys [K]2134
147396139863 rs200998426 0.001byClusterbyFreq YesmissenseGGly [G]2134
missenseTVal [V]2134
contig referenceCAla [A]2134
147396140862 rs755800906 0.000 missenseAThr [T]1134
contig referenceGAla [A]1134
147396141861 rs1352628260 N.D. synonymousALeu [L]3133
contig referenceGLeu [L]3133
147396146856 rs1301760739 N.D. missenseAArg [R]1132
contig referenceTTrp [W]1132
147396149853 rs1280778412 N.D. missenseGGlu [E]1131
contig referenceALys [K]1131
147396154848 rs1443096810 N.D. missenseCThr [T]2129
contig referenceTIle [I]2129
147396159843 rs1260554140 N.D. synonymousAGlu [E]3127
contig referenceGGlu [E]3127
147396162840 rs777745631 0.000 synonymousAGln [Q]3126
contig referenceGGln [Q]3126
147396163839 rs749476661 0.000 missenseGArg [R]2126
contig referenceAGln [Q]2126
147396165837 rs1466472791 N.D. synonymousGLys [K]3125
contig referenceALys [K]3125
147396168834 rs757602919 0.000 synonymousTIle [I]3124
contig referenceCIle [I]3124
147396174828 rs375992684 0.000byClusterbyFreq YesmissenseTHis [H]3122
synonymousAGln [Q]3122
contig referenceGGln [Q]3122
147396175827 rs1404404221 N.D. missenseGArg [R]2122
contig referenceAGln [Q]2122
147396177825 rs1361313383 N.D. synonymousAArg [R]3121
contig referenceCArg [R]3121
147396178824 rs772620883 0.000byFreq missenseAHis [H]2121
contig referenceGArg [R]2121
147396179823 rs1160616911 N.D. missenseASer [S]1121
contig referenceCArg [R]1121
147396181821 rs1174281804 N.D. missenseCThr [T]2120
contig referenceTMet [M]2120
147396185817 rs1425202054 N.D. missenseCHis [H]1119
contig referenceTTyr [Y]1119
147396186816 rs369343399 0.000byCluster synonymousTArg [R]3118
contig referenceCArg [R]3118
147396189813 rs747552676 0.000 missenseGLeu [L]3117
contig referenceCPhe [F]3117
147396197805 rs1318031311 N.D. missenseAThr [T]1115
contig referenceGAla [A]1115
147396198804 rs372506670 0.000byClusterbyFreq synonymousAGly [G]3114
contig referenceCGly [G]3114
147396200802 rs1435419112 N.D. missenseASer [S]1114
contig referenceGGly [G]1114
147396203799 rs776998488 0.000byFreq missenseGAla [A]1113
missenseTSer [S]1113
contig referenceCPro [P]1113
147396206796 rs762572302 0.000byFreq missenseASer [S]1112
missenseTCys [C]1112
contig referenceGGly [G]1112
147396207795 rs773906033 0.000 synonymousTHis [H]3111
contig referenceCHis [H]3111
147396208793 rs1476675244 N.D. frame shiftCPro [P]1111
contig reference-His [H]1111
147396211791 rs368393338 N.D.byCluster missenseGArg [R]2110
contig referenceCPro [P]2110
147396214788 rs375753545 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGlu [E]2109
missenseGGly [G]2109
contig referenceCAla [A]2109
147396218784 rs1324177995 N.D. missenseTSer [S]1108
contig referenceGAla [A]1108
147396222780 rs752538480 0.000byFreq synonymousTAsn [N]3106
contig referenceCAsn [N]3106
147396228774 rs371449799 0.000byClusterbyFreq synonymousAThr [T]3104
synonymousCThr [T]3104
synonymousTThr [T]3104
contig referenceGThr [T]3104
147396229773 rs1266379551 N.D. missenseALys [K]2104
contig referenceCThr [T]2104
147396231771 rs374655433 0.000byCluster synonymousALeu [L]3103
contig referenceGLeu [L]3103
147396237765 rs757551974 0.000 missenseCIle [I]3101
contig referenceGMet [M]3101
147396238764 rs1266365908 N.D. missenseALys [K]2101
contig referenceTMet [M]2101
147396240762 rs1449680828 N.D. synonymousTGly [G]3100
contig referenceCGly [G]3100
147396241761 rs1200844668 N.D. missenseAAsp [D]2100
contig referenceGGly [G]2100
147396242760 rs1247223939 N.D. missenseCArg [R]1100
contig referenceGGly [G]1100
147396243759 rs779338870 0.000byFreq synonymousAGly [G]399
contig referenceGGly [G]399
147396244758 rs750670064 0.000 missenseAGlu [E]299
contig referenceGGly [G]299
147396245757 rs34676558 0.014byClusterbyFreqWith1000GenomeData0.0052 missenseCArg [R]199
missenseCArg [R]199
contig referenceGGly [G]199
contig referenceGGly [G]199
147396250752 rs780210672 0.000 missenseAAsp [D]297
contig referenceGGly [G]297
147396251751 rs747421056 0.000 missenseASer [S]197
contig referenceGGly [G]197
147396253749 rs769200254 0.000byFreq missenseCPro [P]296
missenseGArg [R]296
contig referenceAHis [H]296
147396255747 rs748577372 0.000byFreq synonymousALeu [L]395
contig referenceGLeu [L]395
147396258744 rs770555735 0.000 synonymousAAla [A]394
contig referenceCAla [A]394
147396259743 rs773811220 0.000byFreq missenseAAsp [D]294
contig referenceCAla [A]294
147396263739 rs199650167 0.000byClusterbyFreq missenseCPro [P]193
missenseTSer [S]193
contig referenceGAla [A]193
147396266736 rs541468085 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]192
missenseTSer [S]192
contig referenceGAla [A]192
147396267735 rs764197196 0.000byFreq synonymousCAla [A]391
contig referenceTAla [A]391
147396271731 rs375093741 0.000byCluster missenseAGlu [E]290
missenseTVal [V]290
contig referenceCAla [A]290
147396273729 rs761644702 0.000 synonymousALeu [L]389
contig referenceGLeu [L]389
147396278724 rs1353915619 N.D. missenseTSer [S]188
contig referenceGAla [A]188
147396279723 rs1211396594 N.D. synonymousTAsp [D]387
contig referenceCAsp [D]387
147396280722 rs912062970 N.D. missenseTVal [V]287
contig referenceAAsp [D]287
147396282720 rs1482667755 N.D. synonymousTSer [S]386
contig referenceCSer [S]386
147396286716 rs1179959576 N.D. missenseAHis [H]285
contig referenceGArg [R]285
147396289713 rs1253284800 N.D. missenseAAsp [D]284
missenseTVal [V]284
contig referenceCAla [A]284
147396291711 rs1472640858 N.D. synonymousTAla [A]383
contig referenceGAla [A]383
147396292710 rs182356616 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseAGlu [E]283
missenseTVal [V]283
contig referenceCAla [A]283
147396296706 rs370807321 0.000byClusterbyFreq missenseTSer [S]182
contig referenceCPro [P]182
147396299703 rs779971079 0.000 missenseCArg [R]181
contig referenceGGly [G]181
147396301701 rs1165344103 N.D. missenseAGln [Q]280
contig referenceCPro [P]280
147396302700 rs972196910 N.D. missenseTSer [S]180
contig referenceCPro [P]180
147396303699 rs373825260 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousAPro [P]379
synonymousTPro [P]379
contig referenceGPro [P]379
147396304698 rs755472014 0.000byFreq missenseAGln [Q]279
missenseGArg [R]279
missenseTLeu [L]279
contig referenceCPro [P]279
147396305697 rs781706250 0.000byClusterbyFreq missenseAThr [T]179
contig referenceCPro [P]179
147396306696 rs748665259 0.000 missenseALeu [L]378
synonymousTPhe [F]378
contig referenceCPhe [F]378
147396310692 rs1312189614 N.D. missenseTLeu [L]277
contig referenceCPro [P]277
147396311691 rs1201876845 N.D. missenseAThr [T]177
contig referenceCPro [P]177
147396314688 rs1338900998 N.D. missenseCGln [Q]176
contig referenceGGlu [E]176
147396315687 rs995387172 N.D. synonymousAPro [P]375
contig referenceGPro [P]375
147396317685 rs770106112 0.000 missenseTSer [S]175
contig referenceCPro [P]175
147396318684 rs1341220633 N.D. synonymousAArg [R]374
contig referenceGArg [R]374
147396319683 rs930892145 N.D. missenseTLeu [L]274
contig referenceGArg [R]274
147396321681 rs778224178 0.000byFreq synonymousAAla [A]373
contig referenceGAla [A]373
147396322680 rs374775659 0.000byCluster missenseTVal [V]273
contig referenceCAla [A]273
147396323679 rs771797491 0.000 missenseAThr [T]173
missenseTSer [S]173
contig referenceGAla [A]173
147396324678 rs774862911 0.000 synonymousTTyr [Y]372
contig referenceCTyr [Y]372
147396327675 rs1253527772 N.D. missenseAIle [I]371
contig referenceGMet [M]371
147396328674 rs760323486 0.000 missenseALys [K]271
contig referenceTMet [M]271
147396330672 rs1187853607 N.D. synonymousTAsp [D]370
contig referenceCAsp [D]370
147396331671 rs367841912 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]270
contig referenceAAsp [D]270
147396337665 rs776641741 0.000 missenseTLeu [L]268
contig referenceCPro [P]268
147396338664 rs761869580 0.000 missenseGAla [A]168
missenseTSer [S]168
contig referenceCPro [P]168
147396342660 rs764888367 0.000byFreq synonymousCGly [G]366
contig referenceGGly [G]366
147396343659 rs1398010563 N.D. missenseAGlu [E]266
contig referenceGGly [G]266
147396345657 rs1431000724 N.D. synonymousALeu [L]365
contig referenceGLeu [L]365
147396347655 rs773104172 0.000 missenseAMet [M]165
contig referenceCLeu [L]165
147396349653 rs763054754 0.000byFreq missenseTLeu [L]264
contig referenceGArg [R]264
147396350652 rs1006876526 N.D. missenseGGly [G]164
missenseTCys [C]164
contig referenceCArg [R]164
147396351651 rs766689997 0.000 synonymousALeu [L]363
contig referenceGLeu [L]363
147396352650 rs903268703 N.D. missenseAGln [Q]263
contig referenceTLeu [L]263
147396354648 rs751623446 0.000 synonymousTLeu [L]362
contig referenceCLeu [L]362
147396356646 rs754990917 0.000byFreq missenseTPhe [F]162
contig referenceCLeu [L]162
147396357645 rs767617117 0.000 synonymousGGly [G]361
contig referenceAGly [G]361
147396358644 rs1299622238 N.D. missenseAGlu [E]261
missenseCAla [A]261
contig referenceGGly [G]261
147396359643 rs1342760692 N.D. missenseAArg [R]161
contig referenceGGly [G]161
147396360642 rs999667316 N.D. missenseGLys [K]360
contig referenceTAsn [N]360
147396361641 rs1232497456 N.D. missenseGSer [S]260
contig referenceAAsn [N]260
147396362640 rs201445813 0.000byCluster missenseGAsp [D]160
contig referenceAAsn [N]160
147396364638 rs1421717025 N.D. missenseCSer [S]259
contig referenceTLeu [L]259
147396367635 rs1483960802 N.D. missenseTLeu [L]258
contig referenceCPro [P]258
147396368634 rs756694792 0.000 missenseTSer [S]158
contig referenceCPro [P]158
147396371631 rs1463321170 N.D. missenseTCys [C]157
contig referenceCArg [R]157
147396372630 rs1187055608 N.D. missenseAArg [R]356
contig referenceCSer [S]356
147396376626 rs777969725 0.000 missenseAHis [H]255
contig referenceCPro [P]255
147396380622 rs1216793805 N.D. missenseCPro [P]154
contig referenceTSer [S]154
147396383619 rs1429583831 N.D. missenseAThr [T]153
contig referenceGAla [A]153
147396384618 rs1175998498 N.D. missenseTHis [H]352
contig referenceGGln [Q]352
147396388614 rs958291864 N.D. missenseTLeu [L]251
contig referenceCPro [P]251
147396389613 rs1375939508 N.D. missenseTSer [S]151
contig referenceCPro [P]151
147396391611 rs1467651663 N.D. missenseGArg [R]250
contig referenceCPro [P]250
147396393609 rs749732111 0.000 synonymousAGlu [E]349
contig referenceGGlu [E]349
147396395607 rs757977562 0.000byFreq nonsenseT149
missenseALys [K]149
contig referenceGGlu [E]149
147396398604 rs1433230196 N.D. nonsenseT148
missenseALys [K]148
contig referenceGGlu [E]148
147396399603 rs1322264796 N.D. missenseGGln [Q]347
contig referenceCHis [H]347
147396400602 rs779702578 0.000byFreq missenseGArg [R]247
contig referenceAHis [H]247
147396404598 rs746666942 0.000 missenseAIle [I]146
contig referenceCLeu [L]146
147396405597 rs1299123114 N.D. synonymousTGly [G]345
contig referenceCGly [G]345
147396407595 rs1313376581 N.D. missenseASer [S]145
contig referenceGGly [G]145
147396408594 rs768239384 0.000byFreq synonymousAPro [P]344
contig referenceGPro [P]344
147396409593 rs970157264 N.D. missenseAGln [Q]244
contig referenceCPro [P]244
147396411591 rs776301283 0.000byFreq synonymousTPhe [F]343
contig referenceCPhe [F]343
147396413589 rs758147597 0.000byClusterbyFreq missenseGVal [V]143
contig referenceTPhe [F]143
147396417585 rs769806634 0.000 synonymousASer [S]341
contig referenceGSer [S]341
147396418584 rs1165847431 N.D. missenseGTrp [W]241
contig referenceCSer [S]241
147396423579 rs373963441 N.D.byCluster synonymousTSer [S]339
contig referenceCSer [S]339
147396433569 rs772879133 0.000 missenseTVal [V]236
contig referenceCAla [A]236
147396434568 rs375860038 0.000byClusterbyFreq missenseTSer [S]136
contig referenceGAla [A]136
147396435567 rs563615477 0.000byFreqWith1000GenomeData0.0002 synonymousTThr [T]335
contig referenceCThr [T]335
147396443559 rs1265877578 N.D. missenseALys [K]133
contig referenceCGln [Q]133
147396445557 rs774488083 0.000 missenseAHis [H]232
contig referenceCPro [P]232
147396447555 rs1177213525 N.D. synonymousGGly [G]331
synonymousTGly [G]331
contig referenceCGly [G]331
147396448554 rs1411380137 N.D. missenseAAsp [D]231
contig referenceGGly [G]231
147396450552 rs1455806767 N.D. synonymousCHis [H]330
contig referenceTHis [H]330
147396452550 rs867224132 N.D. missenseTTyr [Y]130
contig referenceCHis [H]130
147396462540 rs938370748 N.D. missenseAArg [R]326
contig referenceCSer [S]326
147396466536 rs201563618 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]225
contig referenceGSer [S]225
147396467535 rs918455751 N.D. missenseGGly [G]125
contig referenceASer [S]125
147402731529 rs1482400691 N.D. missenseCPro [P]123
contig referenceTSer [S]123
147402735525 rs371953025 N.D. synonymousGLys [K]321
contig referenceALys [K]321
147402739521 rs765672232 0.000 missenseCPro [P]220
contig referenceTLeu [L]220
147402740520 rs1021385047 N.D. missenseTPhe [F]120
contig referenceCLeu [L]120
147402741519 rs1293365704 N.D. synonymousCThr [T]319
contig referenceTThr [T]319
147402742518 rs374668732 0.000byCluster missenseTIle [I]219
contig referenceCThr [T]219
147402744516 rs1233577442 N.D. synonymousTAsn [N]318
contig referenceCAsn [N]318
147402745515 rs1472576335 N.D. missenseCThr [T]218
contig referenceAAsn [N]218
147402748512 rs148365070 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]217
contig referenceGArg [R]217
147402749511 rs190583246 0.000byClusterbyFreqWith1000GenomeData0.0004 nonsenseT117
missenseGGly [G]117
synonymousAArg [R]117
contig referenceCArg [R]117
147402751508 rs1445021260 N.D. frame shiftCTTTSer [S]116
contig reference-Tyr [Y]116
147402752508 rs1418584442 N.D. missenseCHis [H]116
contig referenceTTyr [Y]116
147402754506 rs1167798895 N.D. missenseGArg [R]215
contig referenceTLeu [L]215
147402756504 rs928525592 N.D. synonymousAArg [R]314
contig referenceGArg [R]314
147402757503 rs376988307 0.000byClusterbyFreq missenseAGln [Q]214
contig referenceGArg [R]214
147402758502 rs371630014 0.000byCluster missenseTTrp [W]114
contig referenceCArg [R]114
147402761499 rs548029732 0.000byFreqWith1000GenomeData0.0004 synonymousCLeu [L]113
contig referenceTLeu [L]113
147402762498 rs374140522 0.000byClusterbyFreq synonymousCArg [R]312
contig referenceAArg [R]312
147402763497 rs770897181 0.000 missenseAGln [Q]212
contig referenceGArg [R]212
147402764496 rs201698839 0.000byClusterbyFreq nonsenseT112
contig referenceCArg [R]112
147402768492 rs745722053 0.000byFreq synonymousAArg [R]310
contig referenceGArg [R]310
147402769491 rs1247170525 N.D. missenseALys [K]210
missenseCThr [T]210
contig referenceGArg [R]210
147402770490 rs1199383010 N.D. missenseGGly [G]110
contig referenceAArg [R]110
147402771489 rs972703553 N.D. missenseAIle [I]39
contig referenceGMet [M]39
147402772488 rs771870317 0.000 missenseCThr [T]29
contig referenceTMet [M]29
147402773487 rs755600810 0.000byClusterbyFreq missenseTLeu [L]19
contig referenceAMet [M]19
147402776484 rs1273737961 N.D. missenseAMet [M]18
contig referenceGVal [V]18
147402781479 rs760840336 0.000 missenseATyr [Y]26
missenseTPhe [F]26
contig referenceCSer [S]26
147402782478 rs768736441 0.000 missenseCPro [P]16
contig referenceTSer [S]16
147402783477 rs776620376 0.000 synonymousGThr [T]35
contig referenceAThr [T]35
147402784476 rs1461978908 N.D. missenseTIle [I]25
contig referenceCThr [T]25
147402785475 rs1187671172 N.D. missenseTSer [S]15
contig referenceAThr [T]15
147402788472 rs1049227454 N.D. missenseCGln [Q]14
missenseGGlu [E]14
contig referenceALys [K]14
147402793467 rs1451208413 N.D. missenseCThr [T]22
contig referenceGArg [R]22
147402796464 rs559938064 0.000With1000GenomeData0.0002 missenseCThr [T]21
contig referenceTMet [M]21