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SNP linked to Gene (geneID:3690) 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_000212.2plus strandNP_000203.2forwardNT_010783.16GRCh38.p2<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_010783.16NM_000212.2NP_000203.2forwardplus strand419, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
4725387736 rs752525603 0.000 missenseTTrp [W]16
contig referenceCArg [R]16
4725387837 rs762907751 0.000 missenseTLeu [L]26
contig referenceGArg [R]26
4725388746 rs763800456 0.000 missenseTLeu [L]29
contig referenceCPro [P]29
4725389655 rs1051430 N.D. missenseTVal [V]212
contig referenceCAla [A]212
4725389756 rs751163149 0.000 synonymousCAla [A]312
contig referenceGAla [A]312
4725390160 rs115600591 0.027byClusterbyFreqWith1000GenomeData0.0136 missenseAMet [M]114
contig referenceGVal [V]114
4725390564 rs775716749 0.000 (9bp) [GAL]220
4725391069 rs780711301 0.000 synonymousTLeu [L]117
contig referenceCLeu [L]117
4725391372 rs749973154 0.000 missenseAArg [R]118
contig referenceGGly [G]118
4725391877 rs534654534 0.008byFreqWith1000GenomeData0.0038 synonymousTAla [A]319
contig referenceGAla [A]319
4725391978 rs548495900 0.008byFreqWith1000GenomeData0.0038 synonymousTLeu [L]120
contig referenceCLeu [L]120
4725392180 rs748511881 0.000 synonymousALeu [L]320
contig referenceGLeu [L]320
4725392382 rs772418775 0.000 missenseTVal [V]221
contig referenceCAla [A]221
4725392887 rs778013385 0.000 missenseTPhe [F]123
contig referenceGVal [V]123
4725393392 rs768269394 0.001 synonymousTGly [G]324
contig referenceCGly [G]324
47274435116 rs61736877 0.001byClusterbyFreq YessynonymousTThr [T]332
contig referenceCThr [T]332
47274437118 rs544276300 0.000byCluster missenseTMet [M]233
contig referenceCThr [T]233
47274440121 rs765882558 0.000byCluster missenseTLeu [L]234
contig referenceGArg [R]234
47274450131 rs753146344 0.000 missenseAArg [R]337
contig referenceCSer [S]337
47274459140 rs758852422 0.000 missenseCHis [H]340
contig referenceGGln [Q]340
47274461142 rs368427993 0.000byCluster YesmissenseGArg [R]241
contig referenceAGln [Q]241
47274481162 rs747375836 0.000 missenseGVal [V]148
contig referenceAMet [M]148
47274486167 rs371555727 0.000byCluster YessynonymousCCys [C]349
contig referenceTCys [C]349
47274488169 rs530929045 N.D. missenseTVal [V]250
contig referenceCAla [A]250
47274494175 rs781627407 0.000 missenseTPhe [F]252
contig referenceGCys [C]252
47274495176 rs746091831 0.000 synonymousTCys [C]352
contig referenceCCys [C]352
47283355187 rs748124796 0.000 missenseAAsp [D]256
contig referenceCAla [A]256
47283356188 rs771800551 0.000 synonymousTAla [A]356
contig referenceCAla [A]356
47283357189 rs773016947 0.000 synonymousTLeu [L]157
contig referenceCLeu [L]157
47283359191 rs530762040 0.000With1000GenomeData0.0002 synonymousALeu [L]357
contig referenceGLeu [L]357
47283365197 rs776185355 0.000 synonymousALeu [L]359
contig referenceGLeu [L]359
47283368200 rs373101628 0.000byCluster YessynonymousTGly [G]360
contig referenceCGly [G]360
47283369201 rs764807084 0.000 missenseCPro [P]161
contig referenceTSer [S]161
47283370202 rs751951989 0.000 nonsenseG261
contig referenceCSer [S]261
47283375207 rs199866795 0.002byCluster YesmissenseTCys [C]163
contig referenceCArg [R]163
47283376208 rs370054364 0.000byCluster YesmissenseAHis [H]263
contig referenceGArg [R]263
47283383215 rs750855098 0.000 synonymousTAsp [D]365
contig referenceCAsp [D]365
47283385217 rs36080296 0.002byClusterbyFreqWith1000GenomeData0.0012 YesmissenseGArg [R]266
contig referenceTLeu [L]266
47283389221 rs780479441 0.000 synonymousALys [K]367
contig referenceGLys [K]367
47283392224 rs764129001 0.000 frame shiftALys [K]369
contig reference-Asn [N]369
47283398230 rs146833666 0.000 YessynonymousALeu [L]370
contig referenceGLeu [L]370
47283405237 rs753950788 0.000 missenseAAsn [N]173
contig referenceGAsp [D]173
47283412244 rs753932639 0.000 frame shift-Leu [L]275
contig referenceGCys [C]275
47283418250 rs148562034 0.000byCluster YesmissenseGArg [R]277
contig referenceCPro [P]277
47283428260 rs142956423 0.000byCluster YessynonymousTIle [I]380
contig referenceCIle [I]380
47283449281 rs747991001 0.000 synonymousAAla [A]387
synonymousGAla [A]387
contig referenceCAla [A]387
47283451283 rs200358667 0.000byCluster YesmissenseAGln [Q]288
contig referenceGArg [R]288
47283452284 rs368522164 N.D. YessynonymousCArg [R]388
contig referenceAArg [R]388
47283458290 rs540163351 0.000With1000GenomeData0.0002 synonymousGLeu [L]390
contig referenceALeu [L]390
47283459291 rs770559883 0.000 missenseCGln [Q]191
contig referenceGGlu [E]191
47283461293 rs776079585 0.000 synonymousAGlu [E]391
contig referenceGGlu [E]391
47283473305 rs151121691 0.000byClusterWith1000GenomeData0.0002 YessynonymousTLeu [L]395
contig referenceCLeu [L]395
47283476308 rs370980210 0.000byClusterWith1000GenomeData0.0002 YessynonymousTSer [S]396
contig referenceCSer [S]396
47283483315 rs775095815 0.000 missenseASer [S]199
contig referenceGGly [G]199
47283491323 rs72547408 0.000byClusterWith1000GenomeData0.0002 YessynonymousGGly [G]3101
contig referenceAGly [G]3101
47283503335 rs768184261 0.000 missenseTHis [H]3105
contig referenceGGln [Q]3105
47283518350 rs750801874 0.000 missenseAArg [R]3110
contig referenceTSer [S]3110
47283523355 rs78408552 0.000byClusterWith1000GenomeData0.0002 YesmissenseGArg [R]2112
contig referenceAGln [Q]2112
47283529361 rs766857301 0.000 missenseCThr [T]2114
contig referenceTIle [I]2114
47283534366 rs72547409 0.010byClusterbyFreq YesmissenseGVal [V]1116
missenseTPhe [F]1116
contig referenceCLeu [L]1116
47283536368 rs543023015 0.000With1000GenomeData0.0002 synonymousALeu [L]3116
synonymousTLeu [L]3116
contig referenceCLeu [L]3116
47283537369 rs777748046 0.000 missenseTTrp [W]1117
contig referenceCArg [R]1117
47283538370 rs746952064 0.000 missenseAGln [Q]2117
contig referenceGArg [R]2117
47283541373 rs368325996 N.D. YesmissenseAHis [H]2118
contig referenceTLeu [L]2118
47283542374 rs770653879 0.000 synonymousGLeu [L]3118
contig referenceCLeu [L]3118
47283543375 rs781062792 0.000 missenseTTrp [W]1119
contig referenceCArg [R]1119
47283548380 rs769521753 0.000 synonymousGPro [P]3120
contig referenceAPro [P]3120
47284449388 rs755704884 0.000 missenseTLeu [L]2123
contig referenceCSer [S]2123
47284450389 rs141225656 0.000byClusterWith1000GenomeData0.0002 YessynonymousASer [S]3123
contig referenceGSer [S]3123
47284467406 rs768225207 0.000 missenseTLeu [L]2129
contig referenceAGln [Q]2129
47284469408 rs774022747 0.000 missenseAMet [M]1130
contig referenceGVal [V]1130
47284472411 rs199866698 0.000byClusterWith1000GenomeData0.0002 YesmissenseTTrp [W]1131
contig referenceCArg [R]1131
47284473412 rs201806801 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGln [Q]2131
missenseCPro [P]2131
contig referenceGArg [R]2131
47284479418 rs201125736 0.005byClusterbyFreq YesmissenseGGly [G]2133
contig referenceTVal [V]2133
47284482421 rs765375492 0.002 missenseGGly [G]2134
contig referenceAGlu [E]2134
47284485424 rs775629220 0.000 missenseGGly [G]2135
contig referenceAAsp [D]2135
47284492431 rs763182425 0.000 synonymousCPro [P]3137
contig referenceTPro [P]3137
47284495434 rs146957831 0.000byCluster YessynonymousCVal [V]3138
contig referenceGVal [V]3138
47284501440 rs138080707 0.000 YessynonymousAIle [I]3140
contig referenceCIle [I]3140
47284519458 rs757119684 0.000 synonymousALeu [L]3146
contig referenceGLeu [L]3146
47284529468 rs767548512 0.000 missenseGVal [V]1150
contig referenceAMet [M]1150
47284536475 rs750179673 0.000 missenseCAla [A]2152
contig referenceAAsp [D]2152
47284544483 rs755870519 0.000 missenseCArg [R]1155
contig referenceTTrp [W]1155
47284547486 rs780010801 0.000 missenseGGly [G]1156
contig referenceASer [S]1156
47284554493 rs748901429 0.000 missenseGArg [R]2158
contig referenceAGln [Q]2158
47284567506 rs754710569 0.000 synonymousAThr [T]3162
contig referenceCThr [T]3162
47284568507 rs80115510 N.D. YesmissenseCGln [Q]1163
contig referenceALys [K]1163
47284580519 rs376401679 0.000byCluster YesmissenseGGlu [E]1167
contig referenceCGln [Q]1167
47284595534 rs780569847 N.D. missenseGAla [A]1172
contig referenceAThr [T]1172
47284597536 rs771333041 0.000 synonymousTThr [T]3172
contig referenceCThr [T]3172
47284607546 rs781757993 0.000 missenseTTrp [W]1176
contig referenceCArg [R]1176
47284610549 rs375645378 0.000byCluster YesmissenseGVal [V]1177
contig referenceAIle [I]1177
47284618557 rs770144031 0.000byCluster synonymousTPhe [F]3179
contig referenceCPhe [F]3179
47284619558 rs569479486 0.000With1000GenomeData0.0002 missenseAArg [R]1180
contig referenceGGly [G]1180
47284622561 rs763127353 0.000 missenseTSer [S]1181
contig referenceGAla [A]1181
47284624563 rs768911733 0.000 synonymousTAla [A]3181
contig referenceAAla [A]3181
47284629568 rs774400643 0.000 missenseGGly [G]2183
contig referenceTVal [V]2183
47284631570 rs762019352 0.000 missenseAAsn [N]1184
contig referenceGAsp [D]1184
47284633572 rs202100960 0.004byCluster YesmissenseAGlu [E]3184
contig referenceCAsp [D]3184
47284637576 rs370284989 0.000byCluster YesmissenseGAla [A]1186
missenseTSer [S]1186
contig referenceCPro [P]1186
47284638577 rs61736876 0.002byClusterbyFreqWith1000GenomeData0.0010 YesmissenseTLeu [L]2186
contig referenceCPro [P]2186
47284644583 rs143146734 0.000byCluster YesmissenseTLeu [L]2188
contig referenceCSer [S]2188
47284648587 rs754655559 0.000 synonymousCPro [P]3189
synonymousGPro [P]3189
contig referenceAPro [P]3189
47284648587 rs758289890 0.000 frame shift-Thr [T]3190
contig referenceATyr [Y]3190
47284649588 rs374511162 N.D. YesmissenseCHis [H]1190
contig referenceTTyr [Y]1190
47284652591 rs752148028 0.000 missenseGVal [V]1191
contig referenceAMet [M]1191
47284653592 rs757861553 0.000 missenseCThr [T]2191
contig referenceTMet [M]2191
47284656595 rs777168504 0.000 missenseGCys [C]2192
contig referenceATyr [Y]2192
47284657596 rs746342703 0.000 synonymousCTyr [Y]3192
contig referenceTTyr [Y]3192
47284675614 rs770239727 0.000 synonymousTAla [A]3198
contig referenceCAla [A]3198
47284678617 rs200999521 0.000byClusterWith1000GenomeData0.0002 YessynonymousALeu [L]3199
contig referenceCLeu [L]3199
47284679618 rs543887885 N.D.byCluster missenseALys [K]1200
contig referenceGGlu [E]1200
47284680619 rs780043425 N.D. frame shift-Thr [T]2201
contig referenceAAsn [N]2201
47284686625 rs780370658 0.000 missenseTLeu [L]2202
contig referenceCPro [P]2202
47284689628 rs749710272 0.000 missenseATyr [Y]2203
contig referenceGCys [C]2203
47284692631 rs768860879 0.000 missenseGCys [C]2204
contig referenceATyr [Y]2204
47286260635 rs779166548 0.000 missenseGGlu [E]3205
contig referenceTAsp [D]3205
47286272647 rs201064361 0.000byCluster YessynonymousGThr [T]3209
contig referenceCThr [T]3209
47286278653 rs772224387 0.000 synonymousALeu [L]3211
contig referenceGLeu [L]3211
47286280655 rs372055831 N.D. YesmissenseTLeu [L]2212
contig referenceCPro [P]2212
47286299674 rs375360990 0.000byCluster YessynonymousTHis [H]3218
contig referenceCHis [H]3218
47286300675 rs747116356 0.000 missenseAMet [M]1219
contig referenceGVal [V]1219
47286307682 rs770992614 0.000 missenseTMet [M]2221
contig referenceCThr [T]2221
47286308683 rs776647833 0.000 synonymousAThr [T]3221
contig referenceGThr [T]3221
47286315690 rs763017753 0.000 missenseAAsn [N]1224
contig referenceGAsp [D]1224
47286317692 rs765078053 0.000 synonymousTAsp [D]3224
contig referenceCAsp [D]3224
47286319694 rs775185956 0.000 missenseGArg [R]2225
contig referenceAGln [Q]2225
47286323698 rs201877624 0.000byClusterWith1000GenomeData0.0002 YessynonymousAVal [V]3226
contig referenceGVal [V]3226
47286327702 rs763708273 0.000 missenseGGly [G]1228
missenseTCys [C]1228
contig referenceCArg [R]1228
47286328703 rs756689153 0.000 missenseAHis [H]2228
contig referenceGArg [R]2228
47286329704 rs148268885 0.001byClusterbyFreq YessynonymousTArg [R]3228
contig referenceCArg [R]3228
47286334709 rs754292241 0.000 missenseGSer [S]2230
contig referenceAAsn [N]2230
47286349724 rs755511654 0.000 missenseGArg [R]2235
contig referenceALys [K]2235
47286352727 rs746626039 0.000 frame shift-Cys [C]2237
contig referenceAGSer [S]2237
47286356731 rs779306732 0.000 missenseGArg [R]3237
contig referenceTSer [S]3237
47286369744 rs758633284 0.000 synonymousAArg [R]1242
contig referenceCArg [R]1242
47286370745 rs377162158 N.D. YesmissenseAGln [Q]2242
contig referenceGArg [R]2242
47286389764 rs141384746 0.000byCluster YessynonymousTGly [G]3248
contig referenceCGly [G]3248
47286399774 rs56173532 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGVal [V]1252
contig referenceAIle [I]1252
47286411786 rs771080439 0.000 missenseGAla [A]1256
contig referenceAThr [T]1256
47286414789 rs776875095 0.000 missenseAIle [I]1257
contig referenceGVal [V]1257
47287074802 rs200636313 0.000byClusterWith1000GenomeData0.0002 YesmissenseGArg [R]2261
contig referenceALys [K]2261
47287079807 rs368829511 0.000byClusterWith1000GenomeData0.0002 YesmissenseASer [S]1263
contig referenceGGly [G]1263
47287085813 rs761425776 0.000 missenseGGly [G]1265
contig referenceAArg [R]1265
47287088816 rs771763693 0.000 missenseCHis [H]1266
contig referenceAAsn [N]1266
47287094822 rs772696780 0.000 missenseAThr [T]1268
contig referenceGAla [A]1268
47287100828 rs760245142 0.000 missenseTTyr [Y]1270
contig referenceCHis [H]1270
47287102830 rs765922492 0.000 synonymousTHis [H]3270
contig referenceCHis [H]3270
47287106834 rs753092292 0.000 missenseAMet [M]1272
contig referenceCLeu [L]1272
47287106834 rs780737952 0.000 frame shift-Trp [W]1272
contig referenceCLeu [L]1272
47287131859 rs763541283 0.000 missenseTIle [I]2280
contig referenceCThr [T]2280
47287139867 rs747621401 0.000 frame shift-Ile [I]1283
contig referenceGCAla [A]1283
47287142870 rs764328887 0.000 synonymousCLeu [L]1284
contig referenceTLeu [L]1284
47287147875 rs752016676 0.000 synonymousTAsp [D]3285
contig referenceCAsp [D]3285
47287156884 rs372537496 0.000byCluster YessynonymousALeu [L]3288
contig referenceGLeu [L]3288
47287161889 rs781625616 0.000 missenseTVal [V]2290
contig referenceGGly [G]2290
47287174902 rs5919 0.246byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData0.1440 YessynonymousCPro [P]3294
contig referenceTPro [P]3294
47287181909 rs756088530 0.000 missenseAArg [R]1297
contig referenceGGly [G]1297
47287188916 rs780204608 0.000 missenseATyr [Y]2299
contig referenceGCys [C]2299
47287192920 rs376378154 0.000byCluster YessynonymousCHis [H]3300
contig referenceTHis [H]3300
47287206934 rs768677385 0.000 missenseCThr [T]2305
missenseGSer [S]2305
contig referenceAAsn [N]2305
47287209937 rs13306476 N.D.byClusterwithHapMapFreq YesmissenseGArg [R]2306
contig referenceAHis [H]2306
47287210938 rs771708611 0.000 synonymousCHis [H]3306
contig referenceTHis [H]3306
47287215943 rs772785068 0.000 missenseTPhe [F]2308
contig referenceCSer [S]2308
47287227955 rs760392532 0.000 missenseGSer [S]2312
contig referenceCThr [T]2312
47289691970 rs745447879 0.000 missenseTPhe [F]2317
contig referenceCSer [S]2317
47289698977 rs367992642 N.D. YessynonymousAGly [G]3319
contig referenceGGly [G]3319
47289711990 rs147263592 0.004byClusterbyFreqWith1000GenomeData0.0020 YesmissenseGGlu [E]1324
contig referenceALys [K]1324
47289719998 rs774937322 0.000 synonymousTSer [S]3326
contig referenceCSer [S]3326
472897261005 rs201550717 0.000byCluster YesmissenseGAsp [D]1329
contig referenceAAsn [N]1329
472897311010 rs767953405 0.000 synonymousTIle [I]3330
contig referenceCIle [I]3330
472897321011 rs773664684 0.000 missenseCHis [H]1331
contig referenceAAsn [N]1331
472897541033 rs760785007 0.000 missenseCAla [A]2338
contig referenceAGlu [E]2338
472897571036 rs766683852 0.000 missenseGSer [S]2339
contig referenceAAsn [N]2339
472897661045 rs146336675 0.000byCluster YesmissenseGSer [S]2342
contig referenceAAsn [N]2342
472897761055 rs746185894 0.000 frame shift-Thr [T]3346
contig referenceGAsn [N]3346
472901951066 rs377062987 0.000byCluster YesmissenseCAla [A]2349
contig referenceAGlu [E]2349
472902171088 rs750050562 0.000 synonymousCVal [V]3356
contig referenceTVal [V]3356
472902291100 rs373615025 0.000byCluster YessynonymousASer [S]3360
contig referenceCSer [S]3360
472902301101 rs201786330 0.000byClusterWith1000GenomeData0.0002 YesmissenseGVal [V]1361
contig referenceAMet [M]1361
472902331104 rs150029332 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsn [N]1362
contig referenceGAsp [D]1362
472902381109 rs748864401 0.000 synonymousTSer [S]3363
contig referenceCSer [S]3363
472902561127 rs772702255 0.000 synonymousTLeu [L]3369
contig referenceCLeu [L]3369
472902581129 rs371006520 0.000byCluster YesmissenseCThr [T]2370
contig referenceTIle [I]2370
472902591130 rs753885425 N.D. missenseGMet [M]3370
contig referenceTIle [I]3370
472902671138 rs755059759 N.D. missenseAAsp [D]2373
contig referenceCAla [A]2373
472902711142 rs747486209 0.000 synonymousCTyr [Y]3374
contig referenceTTyr [Y]3374
472902741145 rs771280221 0.000 synonymousTGly [G]3375
contig referenceGGly [G]3375
472909581150 rs768738760 0.000 missenseCThr [T]2377
contig referenceTIle [I]2377
472909601152 rs774332906 0.000 missenseTCys [C]1378
contig referenceCArg [R]1378
472909611153 rs761786428 0.000 missenseAHis [H]2378
contig referenceGArg [R]2378
472909841176 rs760480847 0.000 missenseGGly [G]1386
missenseTCys [C]1386
contig referenceCArg [R]1386
472909871179 rs753494130 0.000 missenseAAsn [N]1387
contig referenceGAsp [D]1387
472909941186 rs754620094 0.000 missenseTLeu [L]2389
contig referenceCPro [P]2389
472910051197 rs760882674 N.D. frame shift-Ile [I]1394
contig referenceTCLeu [L]1394
472910061198 rs764776760 0.000 missenseGCys [C]2393
contig referenceCSer [S]2393
472910081200 rs148794549 0.001byClusterbyFreq YesmissenseGVal [V]1394
contig referenceCLeu [L]1394
472910101202 rs144972170 0.000 YessynonymousGLeu [L]3394
contig referenceALeu [L]3394
472910181210 rs757773635 0.000 missenseGSer [S]2397
contig referenceAAsn [N]2397
472910231215 rs781752220 0.002 missenseCPro [P]1399
contig referenceAThr [T]1399
472910291221 rs746384046 0.000 missenseGVal [V]1401
contig referenceCLeu [L]1401
472910361228 rs756417514 0.000 missenseGSer [S]2403
contig referenceAAsn [N]2403
472910441236 rs559147730 0.000With1000GenomeData0.0002 missenseGVal [V]1406
contig referenceAIle [I]1406
472910461238 rs749477357 0.000 synonymousAIle [I]3406
contig referenceCIle [I]3406
472910531245 rs768808626 0.000 missenseTPhe [F]1409
contig referenceCLeu [L]1409
472910571249 rs774476583 0.000 missenseGArg [R]2410
contig referenceALys [K]2410
472910601252 rs78121013 0.001 YesmissenseTPhe [F]2411
contig referenceCSer [S]2411
472910701262 rs772198289 0.000 synonymousCGly [G]3414
contig referenceAGly [G]3414
472910781270 rs186336620 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsn [N]2417
missenseCThr [T]2417
contig referenceTIle [I]2417
472910801272 rs766237947 0.000 missenseAArg [R]1418
contig referenceGGly [G]1418
472910851277 rs776611197 0.000 synonymousTAsp [D]3419
contig referenceCAsp [D]3419
472910871279 rs147758772 0.000byCluster YesmissenseTMet [M]2420
contig referenceCThr [T]2420
472921411283 rs770992537 0.000 synonymousAVal [V]3421
contig referenceGVal [V]3421
472921431285 rs372644002 N.D. YesmissenseAAsn [N]2422
contig referenceGSer [S]2422
472921491291 rs550153970 0.000With1000GenomeData0.0002 missenseAAsn [N]2424
contig referenceGSer [S]2424
472921511293 rs745835951 0.000 missenseTPhe [F]1425
contig referenceAIle [I]1425
472921631305 rs376656815 0.000byCluster YesmissenseAMet [M]1429
contig referenceGVal [V]1429
472921671309 rs369970972 0.000byCluster YesmissenseAGln [Q]2430
contig referenceGArg [R]2430
472921731315 rs762488299 0.000 missenseATyr [Y]2432
contig referenceGCys [C]2432
472921771319 rs200857868 0.002byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTPro [P]3433
contig referenceCPro [P]3433
472921841326 rs767028211 N.D. missenseCGln [Q]1436
contig referenceALys [K]1436
472921851327 rs765171372 N.D. -2437
472921871329 rs754250394 0.000 nonsenseT1437
contig referenceGGlu [E]1437
472922001342 rs760120858 0.000 missenseGSer [S]2441
contig referenceCThr [T]2441
472922101352 rs765488914 0.000 synonymousTPro [P]3444
contig referenceCPro [P]3444
472922111353 rs377628203 0.000byCluster YesmissenseAMet [M]1445
contig referenceGVal [V]1445
472922261368 rs758681983 0.000 missenseGGly [G]1450
contig referenceASer [S]1450
472922351377 rs5921 0.008byClusterbyFreqwithHapMapFreq YesmissenseAIle [I]1453
contig referenceGVal [V]1453
472922381380 rs751839386 0.000 nonsenseT1454
contig referenceCGln [Q]1454
472922541396 rs553184182 0.000With1000GenomeData0.0002 missenseTPhe [F]2459
contig referenceGCys [C]2459
472922581400 rs781359005 0.000 synonymousTAsp [D]3460
contig referenceCAsp [D]3460
472922591401 rs527608006 N.D. frame shift-Leu [L]1462
contig referenceTGAla [A]1462
472922631405 rs745757623 0.000 missenseTVal [V]2462
contig referenceCAla [A]2462
472922671409 rs750306242 0.000 frame shift-Arg [R]3464
contig referenceCGln [Q]3464
472922681410 rs756122334 0.000 missenseGGlu [E]1464
contig referenceCGln [Q]1464
472922711413 rs779697325 0.000 missenseTSer [S]1465
contig referenceGAla [A]1465
472922831425 rs749146406 0.000 missenseGAla [A]1469
contig referenceCPro [P]1469
472922901432 rs566673492 0.000With1000GenomeData0.0002 missenseTIle [I]2471
contig referenceGSer [S]2471
472922911433 rs773934919 0.000 missenseGArg [R]3471
contig referenceCSer [S]3471
472922951437 rs200388813 0.000byClusterWith1000GenomeData0.0002 YesmissenseTCys [C]1473
contig referenceCArg [R]1473
472922961438 rs771443640 0.000 missenseAHis [H]2473
contig referenceGArg [R]2473
472923011443 rs373990432 N.D. YesmissenseGAsp [D]1475
contig referenceAAsn [N]1475
472923051447 rs145103142 0.000byClusterWith1000GenomeData0.0002 YesmissenseTIle [I]2476
contig referenceAAsn [N]2476
472923121454 rs759939957 0.000 missenseALys [K]3478
contig referenceTAsn [N]3478
472923141456 rs765833982 0.000 missenseAGlu [E]2479
contig referenceGGly [G]2479
472923181460 rs763023732 0.000 frame shiftT3482
contig reference-Glu [E]3482
472923331475 rs775716093 0.000 synonymousGVal [V]3485
contig referenceAVal [V]3485
472923371479 rs369140365 0.000byCluster YesmissenseASer [S]1487
missenseTCys [C]1487
contig referenceCArg [R]1487
472923391481 rs751788211 0.000 synonymousCArg [R]3487
contig referenceTArg [R]3487
472923461488 rs757590667 0.000 missenseTSer [S]1490
contig referenceCPro [P]1490
472923621504 rs767469599 0.000 missenseATyr [Y]2495
contig referenceCSer [S]2495
472923791521 rs750572541 0.000 missenseALys [K]1501
contig referenceGGlu [E]1501
472923841526 rs757588032 N.D. missenseCAsp [D]3502
contig referenceGGlu [E]3502
472923891531 rs755999489 0.000 missenseGCys [C]2504
contig referenceATyr [Y]2504
472923921534 rs779974422 0.000 missenseAHis [H]2505
contig referenceGArg [R]2505
472923931535 rs749236449 0.000 synonymousTArg [R]3505
contig referenceCArg [R]3505
472924021544 rs754719740 0.000 synonymousAGln [Q]3508
contig referenceGGln [Q]3508
472924081550 rs144502977 0.000byClusterWith1000GenomeData0.0002 YessynonymousTAsp [D]3510
contig referenceCAsp [D]3510
472924091551 rs150951945 0.000byCluster YesmissenseALys [K]1511
contig referenceGGlu [E]1511
472924111553 rs4642 0.410byClusterbyFreqwithHapMapFreqWith1000GenomeData0.2873 YessynonymousGGlu [E]3511
contig referenceAGlu [E]3511
472924171559 rs772585140 0.000 synonymousTSer [S]3513
contig referenceCSer [S]3513
472924181560 rs746598315 0.000 missenseGAla [A]1514
contig referenceCPro [P]1514
472924211563 rs150138754 0.000byCluster YesmissenseTTrp [W]1515
contig referenceCArg [R]1515
472924221564 rs397843979 N.D. frame shiftAGln [Q]2515
frame shiftGArg [R]2516
472924231565 rs4634 0.410byClusterbyFreqWith1000GenomeData0.2873 YessynonymousAArg [R]3515
contig referenceGArg [R]3515
472924271569 rs774902197 0.000 missenseASer [S]1517
contig referenceGGly [G]1517
472924281570 rs761924225 0.000 missenseTVal [V]2517
contig referenceGGly [G]2517
472924351577 rs371103774 0.000byCluster YessynonymousAPro [P]3519
contig referenceCPro [P]3519
472924361578 rs750612657 0.000 missenseAIle [I]1520
missenseCLeu [L]1520
contig referenceGVal [V]1520
472924481590 rs145572861 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTTrp [W]1524
contig referenceCArg [R]1524
472924491591 rs560812344 0.000With1000GenomeData0.0002 missenseAGln [Q]2524
contig referenceGArg [R]2524
472924531595 rs754949751 0.000 synonymousTGly [G]3525
contig referenceCGly [G]3525
472924541596 rs138793107 0.000byCluster YesmissenseCGln [Q]1526
contig referenceGGlu [E]1526
472924661608 rs752547871 0.000 missenseASer [S]1530
contig referenceGGly [G]1530
472924711613 rs768068950 N.D. synonymousGGln [Q]3531
contig referenceAGln [Q]3531
472924831625 rs757985563 0.000 synonymousTHis [H]3535
contig referenceCHis [H]3535
472924951637 rs777419834 0.000 synonymousCPhe [F]3539
contig referenceTPhe [F]3539
472925051647 rs746658402 0.000 missenseGAla [A]1543
contig referenceAThr [T]1543
472925061648 rs770430144 0.000 missenseTMet [M]2543
contig referenceCThr [T]2543
472925071649 rs780885976 0.000 synonymousAThr [T]3543
contig referenceGThr [T]3543
472925111653 rs749786355 0.000 missenseGGlu [E]1545
contig referenceALys [K]1545
472925191661 rs185135224 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTCys [C]3547
contig referenceCCys [C]3547
472925281670 rs376429975 0.000byCluster YessynonymousTAsp [D]3550
contig referenceCAsp [D]3550
472925291671 rs762168403 0.000 missenseAAsn [N]1551
contig referenceGAsp [D]1551
472925371679 rs772334859 0.000 synonymousTSer [S]3553
contig referenceCSer [S]3553
472925441686 rs370244559 0.000byCluster YesmissenseTCys [C]1556
contig referenceCArg [R]1556
472925521694 rs766268682 0.000 frame shift-Arg [R]3560
contig referenceGGlu [E]3560
472925551697 rs141976972 0.001byClusterbyFreq YessynonymousAGly [G]3559
synonymousTGly [G]3559
contig referenceGGly [G]3559
472925611703 rs146310248 0.000byCluster YesmissenseAIle [I]3561
contig referenceGMet [M]3561
472993181721 rs779681559 0.000 synonymousAGln [Q]3567
contig referenceGGln [Q]3567
472993371740 rs748721676 0.000 synonymousTLeu [L]1574
contig referenceCLeu [L]1574
472993481751 rs140027797 0.000byClusterWith1000GenomeData0.0002 YessynonymousTSer [S]3577
contig referenceCSer [S]3577
472993491752 rs141912699 0.000byCluster YesmissenseAAsn [N]1578
missenseCHis [H]1578
contig referenceGAsp [D]1578
472993571760 rs771279288 0.000 synonymousTThr [T]3580
contig referenceCThr [T]3580
472993631766 rs776894236 0.000 nonsenseA3582
contig referenceCTyr [Y]3582
472993691772 rs746064710 0.000 synonymousTCys [C]3584
contig referenceCCys [C]3584
472993711774 rs769897880 0.000 missenseGSer [S]2585
contig referenceAAsn [N]2585
472993781781 rs200790464 0.002byCluster YessynonymousTThr [T]3587
contig referenceCThr [T]3587
472993801783 rs762965827 0.000 missenseTMet [M]2588
contig referenceCThr [T]2588
472993811784 rs763874595 0.000 synonymousAThr [T]3588
contig referenceGThr [T]3588
472993821785 rs774343946 0.000 missenseTCys [C]1589
contig referenceCArg [R]1589
472993831786 rs761537421 0.000 missenseAHis [H]2589
contig referenceGArg [R]2589
472993851788 rs767399130 0.000 missenseTSer [S]1590
contig referenceAThr [T]1590
472993881791 rs554164072 0.000With1000GenomeData0.0002 missenseCHis [H]1591
contig referenceGAsp [D]1591
472993921795 rs755788915 0.000 missenseGSer [S]2592
contig referenceCThr [T]2592
472993931796 rs766919833 N.D. synonymousTThr [T]3592
contig referenceCThr [T]3592
472993961799 rs150666100 0.000byCluster YessynonymousTCys [C]3593
contig referenceCCys [C]3593
472994011804 rs753229335 0.000 missenseTPhe [F]2595
contig referenceCSer [S]2595
472994071810 rs758947563 N.D. missenseGSer [S]2597
contig referenceAAsn [N]2597
472994081811 rs780710721 N.D. frame shift-Lys [K]3597
contig referenceTAsn [N]3597
472994171820 rs139884210 0.001byClusterbyFreq YessynonymousALeu [L]3600
contig referenceGLeu [L]3600
472994181821 rs747534508 0.000 missenseCArg [R]1601
contig referenceTCys [C]1601
472994231826 rs757664047 0.000 synonymousTSer [S]3602
contig referenceCSer [S]3602
472994241827 rs781502355 0.000 missenseASer [S]1603
contig referenceGGly [G]1603
472994281831 rs746116209 0.000 missenseAHis [H]2604
contig referenceGArg [R]2604
472994291832 rs769950254 0.000 synonymousTArg [R]3604
contig referenceCArg [R]3604
472994301833 rs144884023 0.000 YesmissenseASer [S]1605
contig referenceGGly [G]1605
472994471850 rs775647922 0.000 synonymousTGly [G]3610
contig referenceCGly [G]3610
472994551858 rs749398361 0.000 missenseCAla [A]2613
contig referenceTVal [V]2613
472994601863 rs768771257 0.000 missenseTPhe [F]1615
contig referenceAIle [I]1615
472994611864 rs368080215 0.000byCluster YesmissenseCThr [T]2615
contig referenceTIle [I]2615
472994671870 rs761812282 0.000 missenseTLeu [L]2617
contig referenceCPro [P]2617
472994681871 rs200194171 0.000byClusterWith1000GenomeData0.0002 YessynonymousAPro [P]3617
contig referenceGPro [P]3617
472994701873 rs34092813 N.D. Yesframe shiftGLeu [L]2619
contig reference-Ser [S]2619
472994711874 rs761138008 N.D. synonymousGGly [G]3618
contig referenceCGly [G]3618
472994851888 rs773093107 0.000 missenseTIle [I]2623
contig referenceCThr [T]2623
472994971900 rs536587276 0.000With1000GenomeData0.0002 missenseATyr [Y]2627
contig referenceGCys [C]2627
472995171920 rs766920117 N.D. missenseCArg [R]1634
contig referenceTCys [C]1634
472995191922 rs149823724 0.005byClusterbyFreqWith1000GenomeData0.0024 YessynonymousTCys [C]3634
contig referenceCCys [C]3634
472995211924 rs753524011 0.000 missenseGSer [S]2635
contig referenceCThr [T]2635
473004791935 rs762316156 0.000 missenseALys [K]1639
contig referenceGGlu [E]1639
473004901946 rs556238927 0.000With1000GenomeData0.0002 synonymousAGlu [E]3642
contig referenceGGlu [E]3642
473004951951 rs768083478 0.000 missenseCThr [T]2644
contig referenceALys [K]2644
473004961952 rs777395640 0.000 frame shiftTA3645
contig reference-Lys [K]3645
473005061962 rs139166528 0.000byCluster YesmissenseTTrp [W]1648
contig referenceCArg [R]1648
473005121968 rs756486640 0.000 missenseAThr [T]1650
contig referenceGAla [A]1650
473005131969 rs542849573 N.D. missenseAAsp [D]2650
contig referenceCAla [A]2650
473005191975 rs780437458 0.000 missenseGArg [R]2652
contig referenceAHis [H]2652
473005201976 rs754039761 0.000 synonymousCHis [H]3652
contig referenceTHis [H]3652
473005231979 rs112717328 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTAsp [D]3653
contig referenceCAsp [D]3653
473005241980 rs70940817 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseALys [K]1654
contig referenceGGlu [E]1654
473005401996 rs377302275 0.000byCluster YesmissenseAHis [H]2659
missenseCPro [P]2659
contig referenceGArg [R]2659
473005442000 rs777913442 0.000 synonymousTTyr [Y]3660
contig referenceCTyr [Y]3660
473005482004 rs151219882 0.000byClusterWith1000GenomeData0.0002 YesmissenseASer [S]1662
missenseTCys [C]1662
contig referenceCArg [R]1662
473005492005 rs369443204 0.000byCluster YesmissenseAHis [H]2662
contig referenceGArg [R]2662
473005532009 rs759129863 0.000 missenseGGlu [E]3663
contig referenceCAsp [D]3663
473005542010 rs373150039 0.000byCluster YesmissenseALys [K]1664
contig referenceGGlu [E]1664
473005552011 rs775123693 0.000 missenseCAla [A]2664
contig referenceAGlu [E]2664
473005602016 rs772684844 N.D. missenseALys [K]1666
contig referenceGGlu [E]1666
473005662022 rs762512013 0.000 missenseCLeu [L]1668
contig referenceGVal [V]1668
473005712027 rs763575263 0.000 synonymousGLys [K]3669
contig referenceALys [K]3669
473005752031 rs773751165 0.000 missenseTPhe [F]1671
contig referenceCLeu [L]1671
473005762032 rs761206253 0.000 missenseGArg [R]2671
contig referenceTLeu [L]2671
473005782034 rs79426495 N.D. YesmissenseGGlu [E]1672
contig referenceALys [K]1672
473027272041 rs769568909 0.000 missenseTIle [I]2674
contig referenceCThr [T]2674
473027312045 rs775174822 0.000 synonymousGGly [G]3675
contig referenceCGly [G]3675
473027352049 rs35712170 N.D. Yesframe shiftGGly [G]1677
contig reference-Asp [D]1677
473027382052 rs748912201 0.000 missenseAThr [T]1678
contig referenceGAla [A]1678
473027462060 rs768187781 0.000 synonymousCAsn [N]3680
contig referenceTAsn [N]3680
473027512065 rs773804219 0.000 missenseTIle [I]2682
contig referenceCThr [T]2682
473027682082 rs761100281 0.000 missenseAAsn [N]1688
contig referenceGAsp [D]1688
473027762090 rs766843457 0.000 synonymousTVal [V]3690
contig referenceCVal [V]3690
473027772091 rs534325095 0.000With1000GenomeData0.0002 missenseAIle [I]1691
contig referenceGVal [V]1691
473027912105 rs373450805 N.D. YessynonymousTTyr [Y]3695
contig referenceCTyr [Y]3695
473027932107 rs760003979 0.000 missenseGCys [C]2696
contig referenceATyr [Y]2696
473028032117 rs765672382 0.000 synonymousCSer [S]3699
contig referenceTSer [S]3699
473028182132 rs780384800 0.000 frame shift-Cys [C]3705
contig referenceCLeu [L]3705
473028202134 rs753006260 0.000 missenseCPro [P]2705
contig referenceTLeu [L]2705
473028372151 rs138729147 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTSer [S]1711
contig referenceCPro [P]1711
473028392153 rs764288925 0.000 synonymousGPro [P]3711
contig referenceAPro [P]3711
473028402154 rs751595288 0.000 missenseALys [K]1712
contig referenceGGlu [E]1712
473074802164 rs538875423 0.000With1000GenomeData0.0002 missenseCThr [T]2715
contig referenceALys [K]2715
473074942178 rs763278021 0.000 synonymousTLeu [L]1720
contig referenceCLeu [L]1720
473074962180 rs764341970 0.000 synonymousALeu [L]3720
contig referenceGLeu [L]3720
473074992183 rs751720630 0.000 synonymousTVal [V]3721
contig referenceGVal [V]3721
473074992183 rs776738865 0.000 frame shift-Ser [S]3722
contig referenceGVal [V]3722
473075062190 rs762005536 0.000 missenseTPhe [F]1724
contig referenceCLeu [L]1724
473075082192 rs140221649 0.000byClusterWith1000GenomeData0.0002 synonymousGLeu [L]3724
contig referenceCLeu [L]3724
473075112195 rs145010932 0.000byCluster synonymousGSer [S]3725
contig referenceASer [S]3725
473075172201 rs762143775 0.000 frame shift-Pro [P]3729
contig referenceGAla [A]3729
473075202204 rs376459842 0.000byCluster synonymousAGly [G]3728
contig referenceGGly [G]3728
473075222206 rs769731439 0.000 frame shift-Phe [F]2730
contig referenceCIle [I]2730
473075322216 rs201741054 0.003byCluster synonymousTLeu [L]3732
contig referenceCLeu [L]3732
473075442228 rs73322311 0.020byClusterbyFreqWith1000GenomeData0.0100 synonymousTAla [A]3736
contig referenceCAla [A]3736
473075452229 rs754764865 0.000 missenseAThr [T]1737
contig referenceGAla [A]1737
473075462230 rs778684385 0.000 missenseTVal [V]2737
contig referenceCAla [A]2737
473075632247 rs747733241 0.000 missenseGVal [V]1743
contig referenceCLeu [L]1743
473075682252 rs533751929 0.001byFreqWith1000GenomeData0.0006 synonymousTLeu [L]3744
contig referenceCLeu [L]3744
473075802264 rs553842219 0.000With1000GenomeData0.0002 synonymousTHis [H]3748
contig referenceCHis [H]3748
473075852269 rs142117362 0.002byClusterbyFreqWith1000GenomeData0.0008 missenseAGln [Q]2750
contig referenceGArg [R]2750
473075952279 rs546345692 0.000byCluster synonymousTPhe [F]3753
contig referenceCPhe [F]3753
473075962280 rs763475276 0.000 missenseAThr [T]1754
contig referenceGAla [A]1754
473076002284 rs753574028 N.D. missenseCThr [T]2755
contig referenceALys [K]2755
473076052289 rs768884344 0.000 missenseALys [K]1757
contig referenceGGlu [E]1757
473076152299 rs774678642 0.000 missenseAHis [H]2760
contig referenceGArg [R]2760
473076162300 rs761903689 0.000 synonymousTArg [R]3760
contig referenceCArg [R]3760
473076172301 rs767661092 0.000 missenseAThr [T]1761
contig referenceGAla [A]1761
473076182302 rs151185419 0.000byCluster missenseTVal [V]2761
contig referenceCAla [A]2761
473076212305 rs760612810 0.000 missenseCThr [T]2762
contig referenceGArg [R]2762
473076252309 rs766371619 0.000 synonymousCAla [A]3763
contig referenceAAla [A]3763
473101402323 rs773418194 0.000 missenseAAsp [D]2768
contig referenceCAla [A]2768
473101432326 rs760802957 0.000 missenseGSer [S]2769
contig referenceAAsn [N]2769
473101482331 rs766423016 0.000 missenseTSer [S]1771
contig referenceCPro [P]1771
473101502333 rs200411018 0.000 synonymousTPro [P]3771
contig referenceAPro [P]3771
473101532336 rs759349313 0.000 synonymousCLeu [L]3772
contig referenceGLeu [L]3772
473101562339 rs765101815 0.000 synonymousCTyr [Y]3773
contig referenceTTyr [Y]3773
473101622345 rs543119141 0.001byFreqWith1000GenomeData0.0006 synonymousAGlu [E]3775
contig referenceGGlu [E]3775
473101632346 rs758072004 0.000 missenseAThr [T]1776
missenseTSer [S]1776
contig referenceGAla [A]1776
473101642347 rs751240067 0.000 missenseAAsp [D]2776
contig referenceCAla [A]2776
473101652348 rs563420692 0.000With1000GenomeData0.0002 synonymousTAla [A]3776
contig referenceCAla [A]3776
473101672350 rs780812894 0.000 missenseTMet [M]2777
contig referenceCThr [T]2777
473101682351 rs566831897 0.000byCluster synonymousAThr [T]3777
contig referenceGThr [T]3777
473101702353 rs755385732 0.000 missenseTPhe [F]2778
contig referenceCSer [S]2778
473101722355 rs142369738 0.000byClusterWith1000GenomeData0.0002 missenseGAla [A]1779
contig referenceAThr [T]1779
473101792362 rs748530525 0.000 missenseTIle [I]2781
contig referenceCThr [T]2781
473101882371 rs367659742 0.000byClusterWith1000GenomeData0.0002 missenseTMet [M]2784
contig referenceCThr [T]2784
473101892372 rs565628822 0.000With1000GenomeData0.0002 synonymousAThr [T]3784
contig referenceGThr [T]3784
473101942377 rs747200949 0.000 missenseAGln [Q]2786
contig referenceGArg [R]2786
473101972380 rs771030070 0.000 missenseTVal [V]2787
contig referenceGGly [G]2787

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