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SNP linked to Gene (geneID:55227) 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): 4
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017010997.1plus strandXP_016866486.1forwardNT_007592.16GRCh38.p7View snp on GeneModel
XM_011514727.2plus strandXP_011513029.1forwardNT_007592.16GRCh38.p7View snp on GeneModel
XM_011514726.2plus strandXP_011513028.1forwardNT_007592.16GRCh38.p7View snp on GeneModel
NM_018214.4plus strandNP_060684.4forwardNT_007592.16GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001743505.1433, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
53795262283 rs1203297600 N.D. missenseGLeu [L]32
contig referenceCPhe [F]32
53795265286 rs139186286 0.012byClusterbyFreqWith1000GenomeData0.0124 synonymousTHis [H]33
contig referenceCHis [H]33
53795269290 rs1481316097 N.D. missenseGVal [V]15
contig referenceAIle [I]15
53795271292 rs753164236 0.000byFreq synonymousAIle [I]35
synonymousTIle [I]35
contig referenceCIle [I]35
53795273294 rs761349802 0.000byFreq missenseAHis [H]26
missenseGArg [R]26
contig referenceCPro [P]26
53795274295 rs148096444 0.000byClusterbyFreq synonymousAPro [P]36
synonymousTPro [P]36
contig referenceCPro [P]36
53795275296 rs372326080 0.000byCluster synonymousTLeu [L]17
contig referenceCLeu [L]17
53795281302 rs758005872 0.000 missenseTTrp [W]19
synonymousAArg [R]19
contig referenceCArg [R]19
53795287308 rs1464325910 N.D. frame shift-Thr [T]111
contig referenceAAsn [N]111
53795288309 rs201594887 0.000byClusterbyFreq missenseGSer [S]211
contig referenceAAsn [N]211
53795289310 rs751460067 0.000 missenseALys [K]311
synonymousTAsn [N]311
contig referenceCAsn [N]311
53795290311 rs573873817 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]112
missenseTCys [C]112
contig referenceCArg [R]112
53795291312 rs1169802363 N.D. missenseAHis [H]212
contig referenceGArg [R]212
53795294315 rs1301120399 N.D. missenseCPro [P]213
missenseGArg [R]213
contig referenceAHis [H]213
53795295316 rs1354766786 N.D. missenseGGln [Q]313
contig referenceTHis [H]313
53795302323 rs199811147 0.000byClusterWith1000GenomeData0.0002 missenseGGly [G]116
contig referenceASer [S]116
53795303324 rs61737021 0.007byClusterbyFreqWith1000GenomeData0.0090 missenseTIle [I]216
contig referenceGSer [S]216
53795305326 rs146917621 0.000byClusterbyFreq missenseTPhe [F]117
contig referenceAIle [I]117
53795312333 rs777989930 0.000 missenseGArg [R]219
contig referenceALys [K]219
53795313334 rs749305883 0.000 synonymousALys [K]319
contig referenceGLys [K]319
53795315336 rs771001390 0.000byFreq missenseCPro [P]220
contig referenceGArg [R]220
53795318339 rs774479774 0.000byFreq missenseGArg [R]221
contig referenceAHis [H]221
53795320341 rs1431743958 N.D. missenseCArg [R]122
contig referenceTCys [C]122
53795321342 rs759946039 0.000 missenseCSer [S]222
contig referenceGCys [C]222
53795324345 rs772684052 0.000 missenseTLeu [L]223
contig referenceCSer [S]223
53795325346 rs560463278 N.D.byCluster synonymousTSer [S]323
contig referenceGSer [S]323
53795326347 rs775687191 0.000 synonymousTLeu [L]124
contig referenceCLeu [L]124
53795328349 rs1308797600 N.D. synonymousALeu [L]324
contig referenceGLeu [L]324
53795329350 rs761134442 0.000byFreq missenseTPhe [F]125
contig referenceGVal [V]125
53795331352 rs764936730 0.000byFreq synonymousGVal [V]325
synonymousTVal [V]325
contig referenceCVal [V]325
53795333354 rs1474617118 N.D. missenseGCys [C]226
contig referenceATyr [Y]226
53795334355 rs762488793 0.000byFreq synonymousTTyr [Y]326
contig referenceCTyr [Y]326
53795337358 rs139342978 0.000byCluster YessynonymousTVal [V]327
contig referenceCVal [V]327
53795338359 rs751143030 0.000 missenseTSer [S]128
contig referenceCPro [P]128
53795340361 rs754836779 0.000byFreq synonymousAPro [P]328
synonymousGPro [P]328
contig referenceCPro [P]328
53795341362 rs1275223748 N.D. missenseALys [K]129
contig referenceGGlu [E]129
53795347368 rs767517969 0.000 missenseTPhe [F]131
contig referenceAIle [I]131
53795349370 rs1415393021 N.D. synonymousAIle [I]331
contig referenceCIle [I]331
53795351372 rs1441296052 N.D. missenseGCys [C]232
contig referenceATyr [Y]232
53795352373 rs1412688993 N.D. synonymousTTyr [Y]332
contig referenceCTyr [Y]332
53795354375 rs954809438 N.D. missenseTLeu [L]233
contig referenceGArg [R]233
53795357378 rs1314630463 N.D. missenseGCys [C]234
contig referenceATyr [Y]234
53795361382 rs752383051 0.000byFreq synonymousTAla [A]335
contig referenceCAla [A]335
53795362383 rs755914646 0.000byFreq missenseGGly [G]136
missenseTTrp [W]136
contig referenceCArg [R]136
53795363384 rs1270505154 N.D. missenseAGln [Q]236
contig referenceGArg [R]236
53795370391 rs749505877 0.000 synonymousALeu [L]338
contig referenceGLeu [L]338
53795376397 rs1217052063 N.D. -343
53795376397 rs1304442785 N.D. synonymousAGlu [E]340
contig referenceGGlu [E]340
53795388409 rs1279074714 N.D. synonymousTAsp [D]344
contig referenceCAsp [D]344
53795393414 rs746104594 N.D. missenseGSer [S]246
contig referenceAAsn [N]246
53795395416 rs757532937 0.000byFreq missenseGGlu [E]147
contig referenceCGln [Q]147
53795396417 rs1212285946 N.D. missenseGArg [R]247
contig referenceAGln [Q]247
53795398419 rs1283050409 N.D. missenseGVal [V]148
contig referenceCLeu [L]148
53795400421 rs1429783318 N.D. synonymousTLeu [L]348
contig referenceCLeu [L]348
53795401422 rs1374346857 N.D. missenseTCys [C]149
contig referenceCArg [R]149
53795402423 rs372369456 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]249
missenseTLeu [L]249
contig referenceGArg [R]249
53795404425 rs772419923 0.000 missenseCGln [Q]150
contig referenceGGlu [E]150
53795406427 rs776087653 0.000byFreq synonymousAGlu [E]350
contig referenceGGlu [E]350
53795407428 rs1476516110 N.D. synonymousTLeu [L]151
contig referenceCLeu [L]151
53795412433 rs747281674 0.000 synonymousGPro [P]352
contig referenceCPro [P]352
53795413434 rs769150436 0.000byFreq nonsenseT153
missenseCGln [Q]153
contig referenceGGlu [E]153
53795415436 rs762684607 0.000byFreq synonymousAGlu [E]353
contig referenceGGlu [E]353
53842112439 rs1206784966 N.D. synonymousGGln [Q]354
contig referenceAGln [Q]354
53842124451 rs200584999 0.012byClusterbyFreqWith1000GenomeData0.0078 synonymousGLeu [L]358
contig referenceALeu [L]358
53842125452 rs143277810 0.000byClusterbyFreq missenseAIle [I]159
contig referenceGVal [V]159
53842128455 rs767047816 0.000 missenseGGlu [E]160
contig referenceALys [K]160
53842130457 rs769208699 0.000byClusterbyFreq synonymousGLys [K]360
contig referenceALys [K]360
53842134461 rs1350654180 N.D. synonymousAArg [R]162
contig referenceCArg [R]162
53842135462 rs572415043 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseAGln [Q]262
contig referenceGArg [R]262
53842139466 rs1215787076 N.D. missenseTAsn [N]363
contig referenceGLys [K]363
53842140467 rs1248586222 N.D. missenseTPhe [F]164
contig referenceCLeu [L]164
53842142469 rs1437294735 N.D. synonymousCLeu [L]364
contig referenceTLeu [L]364
53842151478 rs754762486 0.000 frame shift-Arg [R]367
contig reference(17bp)Ser [S]367
53842153480 rs989558985 N.D. missenseTVal [V]268
contig referenceAAsp [D]268
53842158485 rs764058874 0.000 nonsenseT170
contig referenceGGlu [E]170
53842165492 rs753590976 0.000 missenseGArg [R]272
contig referenceAGln [Q]272
53842167494 rs769647674 0.000byFreq missenseTTrp [W]173
contig referenceCArg [R]173
53842168495 rs765320216 0.000byFreq missenseAGln [Q]273
contig referenceGArg [R]273
53842169496 rs1462750471 N.D. synonymousAArg [R]373
contig referenceGArg [R]373
53842176503 rs1165778930 N.D. missenseTSer [S]176
contig referenceCPro [P]176
53842181508 rs1429807401 N.D. missenseTAsp [D]377
contig referenceAGlu [E]377
53842185512 rs368836742 0.000byClusterbyFreq missenseTSer [S]179
contig referenceGAla [A]179
53842186513 rs1375109122 N.D. missenseAGlu [E]279
contig referenceCAla [A]279
53842191518 rs1391433254 N.D. missenseCLeu [L]181
contig referenceTPhe [F]181
53842194521 rs1330257965 N.D. missenseGVal [V]182
contig referenceAMet [M]182
53842198525 rs758617411 0.000 missenseGArg [R]283
contig referenceAGln [Q]283
53842202529 rs1413403830 N.D. synonymousTLeu [L]384
contig referenceGLeu [L]384
53842205532 rs74737975 0.000byClusterWith1000GenomeData0.0002 YessynonymousAVal [V]385
contig referenceGVal [V]385
53842222549 rs751741483 0.000byFreq missenseAGln [Q]291
contig referenceGArg [R]291
53879001563 rs761802979 0.000byFreq missenseCGln [Q]196
contig referenceGGlu [E]196
53879007569 rs769655673 0.000 missenseAThr [T]198
contig referenceCPro [P]198
53879012574 rs1216477216 N.D. synonymousGGlu [E]399
contig referenceAGlu [E]399
53879013575 rs773034572 0.000 missenseGGly [G]1100
contig referenceASer [S]1100
53879014576 rs762673828 0.000 missenseAAsn [N]2100
missenseTIle [I]2100
contig referenceGSer [S]2100
53879015577 rs766561148 0.000 synonymousTSer [S]3100
contig referenceCSer [S]3100
53879019581 rs1278284294 N.D. missenseGAla [A]1102
contig referenceTSer [S]1102
53879031593 rs926128274 N.D. missenseAThr [T]1106
contig referenceGAla [A]1106
53879034596 rs1383045350 N.D. synonymousTLeu [L]1107
contig referenceCLeu [L]1107
53879036598 rs1316738161 N.D. synonymousALeu [L]3107
contig referenceGLeu [L]3107
53879039601 rs774730885 0.000 synonymousAGln [Q]3108
contig referenceGGln [Q]3108
53879040602 rs1466691806 N.D. missenseTLeu [L]1109
contig referenceGVal [V]1109
53879048610 rs1348674323 N.D. synonymousTAsp [D]3111
contig referenceCAsp [D]3111
53879054616 rs759898440 0.000byFreq synonymousTSer [S]3113
contig referenceCSer [S]3113
53879055617 rs140052918 0.000byClusterbyFreq YesmissenseAArg [R]1114
contig referenceGGly [G]1114
53879056618 rs752866910 0.000 missenseAGlu [E]2114
contig referenceGGly [G]2114
53879060622 rs756623078 0.000 missenseALys [K]3115
synonymousTAsn [N]3115
contig referenceCAsn [N]3115
53882888635 rs774356919 0.000byFreq synonymousCLeu [L]1120
contig referenceTLeu [L]1120
53882893640 rs149274907 0.000byClusterbyFreq YessynonymousGPro [P]3121
contig referenceAPro [P]3121
53882897644 rs1420152394 N.D. missenseGGly [G]1123
contig referenceASer [S]1123
53882903650 rs546877542 0.000byClusterbyFreqWith1000GenomeData0.0008 missenseTSer [S]1125
contig referenceCPro [P]1125
53882905652 rs367985909 N.D. Yesframe shift(8bp)Tyr [Y]3130
contig reference-Leu [L]3130
53882906653 rs1416138394 N.D. missenseALys [K]1126
contig referenceGGlu [E]1126
53882908655 rs574060029 0.000byFreqWith1000GenomeData0.0004 synonymousGGlu [E]3126
contig referenceAGlu [E]3126
53882909656 rs1165898241 N.D. synonymousCLeu [L]1127
contig referenceTLeu [L]1127
53882913660 rs760701122 0.000 missenseGArg [R]2128
contig referenceAGln [Q]2128
53882915662 rs1190868299 N.D. frame shift-Ile [I]1129
contig referenceAAsn [N]1129
53882917664 rs543099829 0.000With1000GenomeData0.0002 synonymousCAsn [N]3129
contig referenceTAsn [N]3129
53882923670 rs201576093 0.000byClusterWith1000GenomeData0.0002 YessynonymousGThr [T]3131
contig referenceAThr [T]3131
53882927674 rs996576709 N.D. missenseTPhe [F]1133
contig referenceCLeu [L]1133
53882933680 rs1045281401 N.D. missenseAIle [I]1135
contig referenceGVal [V]1135
53882934681 rs528644948 0.000byFreqWith1000GenomeData0.0004 missenseCAla [A]2135
contig referenceTVal [V]2135
53882941688 rs1373988937 N.D. synonymousTAsp [D]3137
contig referenceCAsp [D]3137
53882944691 rs757839064 0.000 synonymousTIle [I]3138
contig referenceCIle [I]3138
53882948695 rs952553005 N.D. synonymousTLeu [L]1140
contig referenceCLeu [L]1140
53882955702 rs1291275671 N.D. missenseATyr [Y]2142
contig referenceCSer [S]2142
53882957704 rs765579727 0.000byFreq missenseGVal [V]1143
synonymousTLeu [L]1143
contig referenceCLeu [L]1143
53882959706 rs1189686486 N.D. synonymousGLeu [L]3143
contig referenceALeu [L]3143
53882973720 rs939412003 N.D. missenseAAsp [D]2148
missenseTVal [V]2148
contig referenceGGly [G]2148
53896499725 rs1027758169 N.D. missenseGVal [V]1150
contig referenceCLeu [L]1150
53896503729 rs1254087895 N.D. missenseGCys [C]2151
contig referenceATyr [Y]2151
53896507733 rs767103862 0.000byFreq missenseALys [K]3152
contig referenceCAsn [N]3152
53896508734 rs887820958 N.D. synonymousTLeu [L]1153
contig referenceCLeu [L]1153
53896511737 rs1301994009 N.D. missenseTSer [S]1154
contig referenceGAla [A]1154
53896517743 rs752282788 0.000byFreq synonymousTLeu [L]1156
contig referenceCLeu [L]1156
53896523749 rs1220308567 N.D. missenseAMet [M]1158
contig referenceCLeu [L]1158
53896524750 rs1215670038 N.D. missenseAGln [Q]2158
contig referenceTLeu [L]2158
53896526752 rs755864835 0.000 missenseGGly [G]1159
contig referenceAArg [R]1159
53896531757 rs777119430 0.000 missenseTAsp [D]3160
contig referenceGGlu [E]3160
53896535761 rs753438506 0.000 missenseGVal [V]1162
contig referenceCLeu [L]1162
53896539765 rs757212779 0.000 missenseCPro [P]2163
contig referenceTLeu [L]2163
53896542768 rs779026134 0.000 missenseALys [K]2164
contig referenceCThr [T]2164
53896543769 rs745592752 0.000 synonymousGThr [T]3164
contig referenceAThr [T]3164
53896545771 rs772006451 0.000 missenseGCys [C]2165
contig referenceATyr [Y]2165
53896829781 rs368409708 0.000byClusterbyFreq YesmissenseGGlu [E]3168
contig referenceCAsp [D]3168
53896833785 rs199904378 0.000byClusterWith1000GenomeData0.0002 YesmissenseTPhe [F]1170
contig referenceCLeu [L]1170
53896838790 rs768708541 0.000byFreq synonymousTThr [T]3171
contig referenceCThr [T]3171
53896845797 rs781505951 0.000byFreq nonsenseT1174
contig referenceCArg [R]1174
53896846798 rs748156141 0.000byFreq missenseAGln [Q]2174
contig referenceGArg [R]2174
53896848800 rs1442029251 N.D. missenseGGly [G]1175
contig referenceAArg [R]1175
53896853805 rs909461718 N.D. synonymousGLeu [L]3176
contig referenceALeu [L]3176
53896857809 rs1040281674 N.D. nonsenseT1178
contig referenceGGlu [E]1178
53896872824 rs561082646 N.D.byCluster missenseGAsp [D]1183
contig referenceAAsn [N]1183
53896874826 rs769854859 0.000 missenseALys [K]3183
contig referenceCAsn [N]3183
53896883835 rs773352373 0.000 synonymousTIle [I]3186
contig referenceAIle [I]3186
53896884836 rs749767208 0.000byFreq missenseAAsn [N]1187
missenseCHis [H]1187
contig referenceTTyr [Y]1187
53896885837 rs138714082 0.001byClusterbyFreqWith1000GenomeData0.0018 YesmissenseGCys [C]2187
contig referenceATyr [Y]2187
53897285845 rs1209909399 N.D. missenseTSer [S]1190
contig referenceCPro [P]1190
53897287847 rs1256514632 N.D. synonymousGPro [P]3190
contig referenceAPro [P]3190
53897288848 rs1425256566 N.D. missenseALys [K]1191
contig referenceGGlu [E]1191
53897289849 rs772471729 0.000 missenseCAla [A]2191
contig referenceAGlu [E]2191
53897290850 rs200812741 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGGlu [E]3191
contig referenceAGlu [E]3191
53897294854 rs9349688 0.198byClusterbyFreqwith2hitWith1000GenomeData0.1196 YesmissenseGVal [V]1193
missenseTPhe [F]1193
contig referenceAIle [I]1193
53897295855 rs369535354 0.000byClusterbyFreq YesmissenseCThr [T]2193
contig referenceTIle [I]2193
53897300860 rs762552626 0.000byFreq missenseAThr [T]1195
missenseTSer [S]1195
contig referenceGAla [A]1195
53897302862 rs937813511 N.D. synonymousTAla [A]3195
contig referenceCAla [A]3195
53897304864 rs1450874156 N.D. missenseAHis [H]2196
contig referenceTLeu [L]2196
53897309869 rs1188621992 N.D. missenseAAsn [N]1198
contig referenceCHis [H]1198
53897310870 rs766159853 0.000byFreq missenseGArg [R]2198
missenseTLeu [L]2198
contig referenceAHis [H]2198
53897314874 rs751524979 0.000byFreq synonymousGLeu [L]3199
contig referenceALeu [L]3199
53897315875 rs754942001 0.000 missenseGGlu [E]1200
contig referenceALys [K]1200
53897320880 rs148410027 0.000byClusterbyFreq YesmissenseAGlu [E]3201
contig referenceTAsp [D]3201
53897321881 rs752539676 0.000 missenseAIle [I]1202
contig referenceCLeu [L]1202
53897323883 rs756282798 0.000 synonymousGLeu [L]3202
contig referenceCLeu [L]3202
53897331891 rs1055225566 N.D. missenseTVal [V]2205
contig referenceAAsp [D]2205
53897332892 rs896547141 N.D. synonymousCAsp [D]3205
contig referenceTAsp [D]3205
53897335895 rs199986487 0.000byCluster YessynonymousGGly [G]3206
contig referenceAGly [G]3206
53897338898 rs749262411 0.000 synonymousCAsn [N]3207
contig referenceTAsn [N]3207
53897339899 rs757372483 0.000 nonsenseT1208
contig referenceCGln [Q]1208
53897341901 rs1233469195 N.D. synonymousGGln [Q]3208
contig referenceAGln [Q]3208
53897342902 rs116194750 0.000byClusterWith1000GenomeData0.0002 YessynonymousTLeu [L]1209
contig referenceCLeu [L]1209
53897343903 rs1306821533 N.D. missenseCPro [P]2209
contig referenceTLeu [L]2209
53897344904 rs746381367 0.000byFreq synonymousALeu [L]3209
contig referenceGLeu [L]3209
53897347907 rs772495217 0.000 synonymousGSer [S]3210
contig referenceASer [S]3210
53899747920 rs1411687923 N.D. missenseALys [K]1215
contig referenceGGlu [E]1215
53899749922 rs780736899 0.000 missenseCAsp [D]3215
contig referenceAGlu [E]3215
53899750923 rs200563845 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGVal [V]1216
contig referenceAIle [I]1216
53899757930 rs1188506767 N.D. missenseGSer [S]2218
contig referenceAAsn [N]2218
53899758931 rs1392425289 N.D. missenseALys [K]3218
contig referenceTAsn [N]3218
53899759932 rs769152884 0.000 synonymousTLeu [L]1219
contig referenceCLeu [L]1219
53899763936 rs781464059 0.000byFreq missenseGArg [R]2220
contig referenceALys [K]2220
53899767940 rs748962882 0.000byFreq missenseALys [K]3221
contig referenceCAsn [N]3221
53899770943 rs927677628 N.D. synonymousALeu [L]3222
synonymousTLeu [L]3222
contig referenceGLeu [L]3222
53899776949 rs550591899 0.000With1000GenomeData0.0002 synonymousCCys [C]3224
contig referenceTCys [C]3224
53899787960 rs200231839 0.000byClusterbyFreq YesmissenseGCys [C]2228
contig referenceCSer [S]2228
53899788961 rs752557795 0.000 frame shiftTTTCPhe [F]3229
contig reference-Glu [E]3229
53899794967 rs370577799 N.D.byCluster YessynonymousTAsn [N]3230
contig referenceCAsn [N]3230
53899796969 rs1229891452 N.D. missenseALys [K]2231
contig referenceGArg [R]2231
53899797970 rs145944021 0.001byClusterbyFreqWith1000GenomeData0.0040 YesmissenseTSer [S]3231
synonymousAArg [R]3231
contig referenceGArg [R]3231
53899798971 rs759002954 0.000byFreq synonymousCLeu [L]1232
contig referenceTLeu [L]1232
53899806979 rs1221684501 N.D. synonymousGArg [R]3234
contig referenceAArg [R]3234
53899813986 rs1266627956 N.D. missenseCGln [Q]1237
contig referenceGGlu [E]1237
53899818991 rs893464617 N.D. synonymousGGlu [E]3238
contig referenceAGlu [E]3238
53899821994 rs1400448458 N.D. synonymousTIle [I]3239
contig referenceCIle [I]3239
53899823996 rs1489794159 N.D. missenseTIle [I]2240
contig referenceGSer [S]2240
53899824997 rs1175976875 N.D. missenseAArg [R]3240
contig referenceTSer [S]3240
53899825998 rs771931435 0.000 missenseCArg [R]1241
contig referenceGGly [G]1241
53899826999 rs369325431 0.000byCluster YesmissenseAAsp [D]2241
contig referenceGGly [G]2241
538998371010 rs1363878067 N.D. synonymousCLeu [L]1245
contig referenceTLeu [L]1245
538998411014 rs760663842 0.000byFreq missenseTMet [M]2246
contig referenceCThr [T]2246
538998421015 rs530175448 0.000byFreqWith1000GenomeData0.0004 synonymousAThr [T]3246
contig referenceGThr [T]3246
538998471020 rs753614350 0.000 missenseCSer [S]2248
contig referenceTLeu [L]2248
538998511024 rs201576116 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTVal [V]3249
contig referenceCVal [V]3249
538998521025 rs200111023 0.000byClusterbyFreq YesmissenseGVal [V]1250
contig referenceAIle [I]1250
538998571030 rs758553870 0.000 synonymousTSer [S]3251
contig referenceCSer [S]3251
538998581031 rs1404021691 N.D. missenseGGlu [E]1252
contig referenceCGln [Q]1252
538998641037 rs1460444362 N.D. synonymousCLeu [L]1254
contig referenceTLeu [L]1254
538998671040 rs139964397 0.003byClusterbyFreqWith1000GenomeData0.0050 YessynonymousCLeu [L]1255
contig referenceTLeu [L]1255
538998741047 rs369458525 0.000byClusterbyFreq YesmissenseTMet [M]2257
contig referenceCThr [T]2257
538998751048 rs3813848 0.012byClusterbyFreqWith1000GenomeData0.0156 YessynonymousAThr [T]3257
contig referenceGThr [T]3257
538998791052 rs781602114 0.000 missenseGAla [A]1259
contig referenceCPro [P]1259
538998801053 rs1378000942 N.D. missenseTLeu [L]2259
contig referenceCPro [P]2259
538998811054 rs748487870 0.000byFreq synonymousAPro [P]3259
contig referenceGPro [P]3259
538998861059 rs377439238 0.000byCluster YesmissenseAAsp [D]2261
contig referenceGGly [G]2261
538998901063 rs201244974 0.000byCluster YesmissenseGMet [M]3262
contig referenceTIle [I]3262
538998911064 rs559073815 0.000With1000GenomeData0.0002 missenseAArg [R]1263
contig referenceGGly [G]1263
539026341070 rs372298061 0.000 YesmissenseGVal [V]1265
contig referenceCLeu [L]1265
539026371073 rs764245696 0.000 -1267
539026431079 rs758088869 0.000 synonymousTLeu [L]1268
contig referenceCLeu [L]1268
539026481084 rs779515412 0.000 synonymousTSer [S]3269
contig referenceASer [S]3269
539026491085 rs199592597 0.001byClusterbyFreq YesmissenseGVal [V]1270
contig referenceAIle [I]1270
539026511087 rs368713717 0.000byCluster YesmissenseGMet [M]3270
contig referenceCIle [I]3270
539026581094 rs776436858 0.000 missenseAMet [M]1273
contig referenceGVal [V]1273
539026601096 rs1366711778 N.D. synonymousAVal [V]3273
contig referenceGVal [V]3273
539026751111 rs1324229855 N.D. synonymousGLeu [L]3278
contig referenceCLeu [L]3278
539026791115 rs79785688 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseGGlu [E]1280
contig referenceCGln [Q]1280
539026811117 rs1418620384 N.D. missenseTHis [H]3280
contig referenceGGln [Q]3280
539026881124 rs548538489 N.D.byCluster missenseALys [K]1283
contig referenceGGlu [E]1283
539026911127 rs769458752 0.000 missenseAThr [T]1284
contig referenceGAla [A]1284
539026931129 rs372318750 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGAla [A]3284
contig referenceAAla [A]3284
539026951131 rs763233291 0.000 missenseCAla [A]2285
contig referenceTVal [V]2285
539026981134 rs940423529 N.D. missenseCAla [A]2286
contig referenceGGly [G]2286
539027071143 rs1173599741 N.D. missenseGGly [G]2289
contig referenceAGlu [E]2289
539027191155 rs751805422 0.000 frame shift-Phe [F]2294
contig referenceAGTTLeu [L]2294
539027271163 rs983890530 N.D. missenseGVal [V]1296
missenseTPhe [F]1296
contig referenceCLeu [L]1296
539027311167 rs1248779935 N.D. missenseALys [K]2297
contig referenceCThr [T]2297
539027401176 rs1466287113 N.D. missenseGArg [R]2300
contig referenceAGln [Q]2300
539027411177 rs568040683 N.D.byCluster missenseTHis [H]3300
contig referenceGGln [Q]3300
539043791184 rs1289235182 N.D. missenseGAla [A]1303
contig referenceAThr [T]1303
539043801185 rs1452167301 N.D. missenseAAsn [N]2303
contig referenceCThr [T]2303
539043841189 rs748027666 0.000 synonymousTLeu [L]3304
contig referenceGLeu [L]3304
539043861191 rs1249397284 N.D. missenseTLeu [L]2305
contig referenceCPro [P]2305
539043951200 rs769808539 0.000byFreq missenseCThr [T]2308
contig referenceTIle [I]2308
539044011206 rs954701176 N.D. missenseGArg [R]2310
contig referenceALys [K]2310
539044111216 rs1182568256 N.D. synonymousALys [K]3313
contig referenceGLys [K]3313
539044161221 rs559339335 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]2315
contig referenceGSer [S]2315
539044231228 rs572755445 0.000With1000GenomeData0.0002 synonymousALeu [L]3317
contig referenceGLeu [L]3317
539044321237 rs771213591 0.000 synonymousTAsp [D]3320
contig referenceCAsp [D]3320
539044381243 rs1390813874 N.D. synonymousCAsn [N]3322
contig referenceTAsn [N]3322
539044391244 rs1406512229 N.D. missenseCGln [Q]1323
contig referenceALys [K]1323
539044451250 rs774730907 0.000 missenseAMet [M]1325
missenseCLeu [L]1325
contig referenceGVal [V]1325
539044601265 rs1369206506 N.D. missenseCGln [Q]1330
contig referenceGGlu [E]1330
539044621267 rs1465690215 N.D. synonymousAGlu [E]3330
contig referenceGGlu [E]3330
539138561270 rs1341239048 N.D. missenseGMet [M]3331
synonymousTIle [I]3331
contig referenceCIle [I]3331
539138591273 rs374887205 0.000byClusterbyFreq YessynonymousTGly [G]3332
contig referenceCGly [G]3332
539138601274 rs886834828 N.D. missenseAArg [R]1333
contig referenceGGly [G]1333
539138631277 rs201915048 0.015byClusterbyFreq YesmissenseGGly [G]1334
contig referenceTCys [C]1334
539138651279 rs770839676 0.002byFreq nonsenseA3334
missenseGTrp [W]3334
synonymousTCys [C]3334
contig referenceCCys [C]3334
539138661280 rs772387448 0.000 missenseGGly [G]1335
contig referenceTCys [C]1335
539138731287 rs775384838 0.000byFreq missenseCPro [P]2337
contig referenceTLeu [L]2337
539138751289 rs760839134 0.000byFreq missenseCPro [P]1338
contig referenceAThr [T]1338
539138761290 rs769083565 0.000 missenseGSer [S]2338
contig referenceCThr [T]2338
539138771291 rs187209436 0.002byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCThr [T]3338
contig referenceTThr [T]3338
539138781292 rs1269016728 N.D. missenseAMet [M]1339
contig referenceGVal [V]1339
539138801294 rs762364896 0.000 synonymousAVal [V]3339
contig referenceGVal [V]3339
539138861300 rs1246864387 N.D. synonymousCCys [C]3341
contig referenceTCys [C]3341
539138871301 rs1449441801 N.D. missenseTLeu [L]1342
contig referenceGVal [V]1342
539138911305 rs373006710 0.000byClusterbyFreq YesmissenseAHis [H]2343
missenseCPro [P]2343
contig referenceGArg [R]2343
539139001314 rs759086835 0.000byFreq missenseCThr [T]2346
contig referenceGArg [R]2346
539139011315 rs1464875181 N.D. synonymousGArg [R]3346
contig referenceAArg [R]3346
539139021316 rs1211824451 N.D. missenseAIle [I]1347
contig referenceCLeu [L]1347
539139081322 rs1035557064 N.D. missenseTTrp [W]1349
contig referenceCArg [R]1349
539139091323 rs200438450 0.000byClusterbyFreq YesmissenseAGln [Q]2349
contig referenceGArg [R]2349
539139171331 rs752084774 0.000 missenseTSer [S]1352
contig referenceGAla [A]1352
539139191333 rs376746937 0.000byCluster YessynonymousGAla [A]3352
contig referenceAAla [A]3352
539139221336 rs755665482 0.000byFreq synonymousAGlu [E]3353
contig referenceGGlu [E]3353
539139231337 rs1435781917 N.D. missenseAMet [M]1354
contig referenceGVal [V]1354
539139391353 rs895631029 N.D. missenseGGly [G]2359
contig referenceAGlu [E]2359
539139521366 rs763759136 0.000 synonymousALeu [L]3363
contig referenceGLeu [L]3363
539139641378 rs753822862 0.000 synonymousAGly [G]3367
contig referenceGGly [G]3367
539194981384 rs569292129 N.D.byCluster missenseTSer [S]3369
synonymousAArg [R]3369
contig referenceGArg [R]3369
539195011387 rs1161462354 N.D. missenseTPhe [F]3370
contig referenceGLeu [L]3370
539195041390 rs763667127 0.000byFreq synonymousALeu [L]3371
contig referenceGLeu [L]3371
539195051391 rs1052099608 N.D. missenseTTyr [Y]1372
contig referenceCHis [H]1372
539195061392 rs1380943572 N.D. missenseGArg [R]2372
contig referenceAHis [H]2372
539195101396 rs575420124 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]3373
synonymousGLeu [L]3373
contig referenceALeu [L]3373
539195151401 rs180993604 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCSer [S]2375
contig referenceTLeu [L]2375
539195171403 rs765253155 0.000 missenseAThr [T]1376
contig referenceTSer [S]1376
539195191405 rs554885648 0.000With1000GenomeData0.0002 synonymousTSer [S]3376
contig referenceCSer [S]3376
539195241410 rs758225335 0.000 missenseTIle [I]2378
contig referenceCThr [T]2378
539195251411 rs1417834370 N.D. synonymousAThr [T]3378
contig referenceTThr [T]3378
539195331419 rs1029954237 N.D. missenseGArg [R]2381
contig referenceALys [K]2381
539195461432 rs373399190 0.000byCluster YessynonymousCLeu [L]3385
contig referenceGLeu [L]3385
539195501436 rs1159097518 N.D. missenseGVal [V]1387
contig referenceCLeu [L]1387
539195541440 rs574371915 0.000With1000GenomeData0.0002 missenseGCys [C]2388
contig referenceCSer [S]2388
539195661452 rs755229704 0.000 missenseTPhe [F]2392
contig referenceCSer [S]2392
539195731459 rs377553877 0.000byCluster synonymousTPro [P]3394
contig referenceCPro [P]3394
539195771463 rs1244835508 N.D. missenseTPhe [F]1396
contig referenceCLeu [L]1396
539195801466 rs370221954 0.000byCluster missenseGAla [A]1397
contig referenceAThr [T]1397
539195881474 rs374937157 0.001byClusterbyFreqWith1000GenomeData0.0022 synonymousAGln [Q]3399
contig referenceGGln [Q]3399
539195961482 rs1203462657 N.D. missenseTIle [I]2402
contig referenceCThr [T]2402
539196001486 rs537954712 0.000byCluster missenseGGlu [E]3403
contig referenceCAsp [D]3403
539196021488 rs377502944 0.000byCluster missenseGCys [C]2404
contig referenceATyr [Y]2404
539196031489 rs1482246647 N.D. synonymousTTyr [Y]3404
contig referenceCTyr [Y]3404
539196061492 rs771325521 0.000byFreq synonymousTThr [T]3405
contig referenceCThr [T]3405
539196071493 rs1411845696 N.D. missenseGAla [A]1406
missenseTSer [S]1406
contig referenceAThr [T]1406
539196141500 rs1423343399 N.D. -2409
539196181504 rs1202833118 N.D. missenseCAsn [N]3409
contig referenceGLys [K]3409
539196281514 rs774699394 N.D. missenseASer [S]1413
contig referenceTCys [C]1413
539196481534 rs370690369 0.000byCluster synonymousCLeu [L]3419
contig referenceGLeu [L]3419
539196491535 rs1387015410 N.D. missenseTSer [S]1420
contig referenceCPro [P]1420
539196541540 rs1427733856 N.D. synonymousCSer [S]3421
contig referenceTSer [S]3421
539196621548 rs774622125 0.000byFreq missenseTIle [I]2424
contig referenceCThr [T]2424
539196631549 rs760382819 0.000byFreq synonymousCThr [T]3424
contig referenceTThr [T]3424
539196651551 rs768447766 0.000 missenseCSer [S]2425
contig referenceGCys [C]2425
539206251557 rs1297538894 N.D. missenseGGly [G]2427
contig referenceAGlu [E]2427
539206261558 rs769341733 0.000 missenseCAsp [D]3427
missenseTAsp [D]3427
synonymousAGlu [E]3427
contig referenceGGlu [E]3427
539206321564 rs974629445 N.D. synonymousCLeu [L]3429
contig referenceGLeu [L]3429
539206331565 rs772638013 0.000byClusterbyFreq missenseTSer [S]1430
contig referenceCPro [P]1430
539206361568 rs374506493 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTCys [C]1431
contig referenceCArg [R]1431
539206371569 rs766245709 0.000byFreq missenseAHis [H]2431
contig referenceGArg [R]2431
539206431575 rs751312143 0.000byFreq missenseCAla [A]2433
contig referenceGGly [G]2433
539206461578 rs199539318 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGGly [G]2434
contig referenceCAla [A]2434
539206471579 rs767359790 0.000byFreq synonymousCAla [A]3434
contig referenceAAla [A]3434
539206531585 rs752915481 0.000 missenseTAsp [D]3436
contig referenceGGlu [E]3436
539206561588 rs1476315923 N.D. synonymousTAsn [N]3437
contig referenceCAsn [N]3437
539206571589 rs756335082 0.000 synonymousCLeu [L]1438
contig referenceTLeu [L]1438
539206651597 rs777891060 0.000 synonymousCAsn [N]3440
contig referenceTAsn [N]3440
539206661598 rs753887291 0.000 missenseAAsn [N]1441
missenseTTyr [Y]1441
contig referenceGAsp [D]1441
539206671599 rs760325227 0.000byFreq missenseGGly [G]2441
contig referenceAAsp [D]2441
539206711603 rs1314997427 N.D. synonymousGVal [V]3442
contig referenceCVal [V]3442
539206751607 rs779568963 0.000byFreq missenseAAsn [N]1444
contig referenceGAsp [D]1444
539206781610 rs1396662907 N.D. missenseALys [K]1445
contig referenceGGlu [E]1445
539206801612 rs199701206 0.002 missenseCAsp [D]3445
contig referenceAGlu [E]3445
539206821614 rs1394171779 N.D. missenseTVal [V]2446
contig referenceCAla [A]2446
539206831615 rs746175801 0.000 synonymousGAla [A]3446
synonymousTAla [A]3446
contig referenceCAla [A]3446
539206891621 rs145751111 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousTAsn [N]3448
contig referenceCAsn [N]3448
539206901622 rs780630878 0.000byFreq missenseALys [K]1449
missenseCGln [Q]1449
contig referenceGGlu [E]1449
539206921624 rs747770606 0.000 missenseCAsp [D]3449
synonymousAGlu [E]3449
contig referenceGGlu [E]3449
539206931625 rs769376925 0.000 missenseTCys [C]1450
contig referenceCArg [R]1450
539206941626 rs772725155 0.000 missenseAHis [H]2450
contig referenceGArg [R]2450
539206951627 rs1224458888 N.D. synonymousAArg [R]3450
synonymousCArg [R]3450
synonymousGArg [R]3450
contig referenceTArg [R]3450
539206961628 rs1272021893 N.D. missenseCPro [P]1451
contig referenceGAla [A]1451
539207051637 rs1285456491 N.D. missenseGGly [G]1454
contig referenceAArg [R]1454
539207071639 rs748776132 0.000 missenseTSer [S]3454
contig referenceAArg [R]3454
539207121644 rs544722170 0.000With1000GenomeData0.0002 missenseAAsn [N]2456
contig referenceGSer [S]2456
539207131645 rs1285043552 N.D. missenseAArg [R]3456
contig referenceTSer [S]3456
539207141646 rs1448724811 N.D. missenseAThr [T]1457
contig referenceGAla [A]1457
539207151647 rs774261475 0.000byFreq missenseTVal [V]2457
contig referenceCAla [A]2457
539207161648 rs764398145 0.000byFreq synonymousAAla [A]3457
contig referenceGAla [A]3457
539207201652 rs779371508 0.000 frame shift(50bp)Leu [L]1459
contig reference-Arg [R]1459
539207201652 rs1207699310 N.D. missenseGGly [G]1459
contig referenceCArg [R]1459
539207211653 rs1201238707 N.D. missenseAGln [Q]2459
contig referenceGArg [R]2459
539207221654 rs530076177 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousGArg [R]3459
contig referenceAArg [R]3459
539207241656 rs1472057692 N.D. missenseATyr [Y]2460
contig referenceTPhe [F]2460
539207261658 rs775316563 0.000byFreq missenseAMet [M]1461
contig referenceGVal [V]1461
539207281660 rs1409499677 N.D. synonymousAVal [V]3461
contig referenceGVal [V]3461
539207281660 rs1483141037 N.D. -3462
539207331665 rs200742830 0.002 missenseTVal [V]2463
contig referenceAAsp [D]2463
539207371669 rs760902644 0.000 synonymousAGlu [E]3464
contig referenceGGlu [E]3464
539207381670 rs1322178387 N.D. missenseGGlu [E]1465
contig referenceALys [K]1465
539207411673 rs1349763623 N.D. missenseAAsn [N]1466
contig referenceGAsp [D]1466
539207441676 rs1180582314 N.D. -1468
539207461678 rs371207727 0.000byClusterbyFreq synonymousGGlu [E]3467
contig referenceAGlu [E]3467
539207521684 rs1305273699 N.D. missenseAGlu [E]3469
contig referenceCAsp [D]3469
539207531685 rs1348940667 N.D. missenseCHis [H]1470
missenseGAsp [D]1470
contig referenceAAsn [N]1470
539207541686 rs374759146 0.002byClusterbyFreqWith1000GenomeData0.0020 missenseGSer [S]2470
contig referenceAAsn [N]2470
539207601692 rs540816351 0.000byFreqWith1000GenomeData0.0004 missenseTMet [M]2472
contig referenceCThr [T]2472
539207611693 rs367872325 0.000byCluster synonymousAThr [T]3472
contig referenceGThr [T]3472
539226361695 rs764321999 0.000byFreq missenseALys [K]2473
contig referenceGArg [R]2473
539226391698 rs1045438178 N.D. missenseTIle [I]2474
contig referenceCThr [T]2474
539226401699 rs776702216 0.000 synonymousGThr [T]3474
contig referenceAThr [T]3474
539226461705 rs762160200 0.000byFreq synonymousCLeu [L]3476
synonymousGLeu [L]3476
contig referenceALeu [L]3476
539226511710 rs765376240 0.000byFreq missenseAGln [Q]2478
contig referenceGArg [R]2478
539226641723 rs994058523 N.D. synonymousTHis [H]3482
contig referenceCHis [H]3482
539226661725 rs62396260 N.D. missenseAGln [Q]2483
contig referenceCPro [P]2483
539226821741 rs750579414 0.000 missenseGGln [Q]3488
contig referenceCHis [H]3488
539226831742 rs200754582 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseTLeu [L]1489
contig referenceAMet [M]1489
539226861745 rs369546107 0.000byCluster missenseGGlu [E]1490
contig referenceALys [K]1490
539226881747 rs767020748 0.000 synonymousGLys [K]3490
contig referenceALys [K]3490
539226901749 rs373712253 0.000byCluster missenseCThr [T]2491
contig referenceALys [K]2491
539226991758 rs1001296870 N.D. missenseCAla [A]2494
contig referenceAGlu [E]2494
539227001759 rs1304461504 N.D. missenseTAsp [D]3494
contig referenceGGlu [E]3494
539227011760 rs1379884164 N.D. missenseGAsp [D]1495
contig referenceAAsn [N]1495
539227021761 rs375777240 0.000byCluster missenseCThr [T]2495
contig referenceAAsn [N]2495
539227071766 rs538702416 0.000byClusterbyFreq missenseTTrp [W]1497
contig referenceCArg [R]1497
539227081767 rs1243209266 N.D. missenseAGln [Q]2497
contig referenceGArg [R]2497
539227091768 rs1294816438 N.D. -3499
539227161775 rs748863973 0.000 missenseGVal [V]1500
contig referenceAMet [M]1500
539227171776 rs1034475424 N.D. missenseGArg [R]2500
contig referenceTMet [M]2500
539227201779 rs756956483 0.000 missenseGSer [S]2501
contig referenceAAsn [N]2501
539227211780 rs778350045 0.000byFreq missenseALys [K]3501
contig referenceTAsn [N]3501
539227251784 rs745418139 0.000byFreq missenseCPro [P]1503
missenseTSer [S]1503
contig referenceGAla [A]1503
539227271786 rs771933613 0.000 synonymousCAla [A]3503
contig referenceTAla [A]3503
539227291788 rs1398988712 N.D. missenseGArg [R]2504
contig referenceALys [K]2504
539227321791 rs1180566182 N.D. missenseTVal [V]2505
contig referenceGGly [G]2505
539227341793 rs1368268774 N.D. synonymousTLeu [L]1506
contig referenceCLeu [L]1506
539227351794 rs369984538 0.000byCluster missenseAGln [Q]2506
contig referenceTLeu [L]2506
539227371796 rs747027962 0.000 missenseAAsn [N]1507
contig referenceGAsp [D]1507
539227381797 rs768328659 0.000byClusterbyFreq missenseCAla [A]2507
contig referenceAAsp [D]2507
539227411800 rs780891242 0.000 frame shift-Lys [K]2509
contig referenceCAAAAsn [N]2509
539227431802 rs1295343447 N.D. missenseGAsp [D]1509
contig referenceAAsn [N]1509
539227451804 rs1364296001 N.D. frame shiftALys [K]3511
contig reference-Asn [N]3511
539227511810 rs776526801 0.000byFreq synonymousTAsn [N]3511
contig referenceCAsn [N]3511
539227521811 rs761915713 0.000byFreq missenseALys [K]1512
contig referenceGGlu [E]1512
539227531812 rs770158754 0.000 missenseGGly [G]2512
contig referenceAGlu [E]2512
539227551814 rs1024273135 N.D. missenseCLeu [L]1513
contig referenceGVal [V]1513
539227591818 rs373052418 0.000byCluster missenseGSer [S]2514
contig referenceAAsn [N]2514
539227621821 rs763128173 0.000byFreq missenseGArg [R]2515
contig referenceAHis [H]2515
539227731832 rs766933024 0.000byFreq nonsenseT1519
contig referenceCArg [R]1519
539227741833 rs1186071248 N.D. missenseAGln [Q]2519
contig referenceGArg [R]2519
539227831842 rs527240164 0.000With1000GenomeData0.0002 missenseTIle [I]2522
contig referenceCThr [T]2522
539227841843 rs760130990 0.000 synonymousCThr [T]3522
contig referenceTThr [T]3522
539227851844 rs1194411491 N.D. missenseCPro [P]1523
contig referenceTSer [S]1523
539227871846 rs61734465 0.013byClusterbyFreqWith1000GenomeData0.0270 synonymousGSer [S]3523
contig referenceTSer [S]3523
539227881847 rs1307760482 N.D. missenseAMet [M]1524
contig referenceGVal [V]1524
539227891848 rs1477183109 N.D. missenseGGly [G]2524
contig referenceTVal [V]2524
539227901849 rs753127895 0.000byFreq synonymousAVal [V]3524
contig referenceGVal [V]3524
539227921851 rs1407046202 N.D. synonymous-2525
contig referenceAG2525
539232122271 rs1274066247 N.D. -
539234952554 rs1007740119 N.D. -
539236012660 rs1273046220 N.D. -
539238512910 rs1335849266 N.D. -
539238602919 rs1243353839 N.D. -