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SNP linked to Gene (geneID:7389) Via Contig Annotation

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

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_005271170.1plus strandXP_005271227.1forwardNT_032977.10GRCh38.p7<- currently shown
XM_005271169.1plus strandXP_005271226.1forwardNT_032977.10GRCh38.p7View snp on GeneModel
NM_000374.4plus strandNP_000365.3forwardNT_032977.10GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_032977.10XM_005271170.1XP_005271227.1forwardplus strand355, 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
45012266134 rs1187737599 N.D. missenseGVal [V]11
contig referenceAMet [M]11
45012268136 rs368362264 0.000byCluster YesmissenseAIle [I]31
contig referenceGMet [M]31
45012274142 rs765898694 0.000 synonymousAAla [A]33
contig referenceGAla [A]33
45012277145 rs1464580655 N.D. missenseGLys [K]34
contig referenceTAsn [N]34
45012278146 rs1301079631 N.D. missenseAArg [R]15
contig referenceGGly [G]15
45012285153 rs750900150 0.000 missenseAGlu [E]27
missenseTVal [V]27
contig referenceGGly [G]27
45012908155 rs768306928 0.000byFreq missenseTSer [S]18
contig referenceCPro [P]18
45012909156 rs1227012557 N.D. frame shiftTCAGSer [S]210
contig reference-Gly [G]210
45012910157 rs1345402371 N.D. synonymousCPro [P]38
contig referenceTPro [P]38
45012911158 rs776332239 0.000byFreq missenseALys [K]19
contig referenceCGln [Q]19
45012913160 rs150027651 0.000byClusterbyFreq YesmissenseCHis [H]39
contig referenceGGln [Q]39
45012913160 rs776502697 0.000 frame shift-Val [V]310
contig referenceGGly [G]310
45012914161 rs1454016950 N.D. missenseASer [S]110
contig referenceGGly [G]110
45012916163 rs1284096582 N.D. synonymousGGly [G]310
contig referenceTGly [G]310
45012921168 rs1371613031 N.D. missenseTLeu [L]212
contig referenceCPro [P]212
45012924171 rs1217452419 N.D. missenseGGly [G]213
contig referenceAGlu [E]213
45012927174 rs11541967 N.D. YesmissenseCPro [P]214
contig referenceTLeu [L]214
45012929176 rs11541959 N.D. YesmissenseGGlu [E]115
contig referenceALys [K]115
45012934181 rs766980312 0.000 synonymousCAsn [N]316
contig referenceTAsn [N]316
45012935182 rs955275724 N.D. missenseAAsn [N]117
contig referenceGAsp [D]117
45012941188 rs774707782 0.000byFreq missenseCLeu [L]119
contig referenceTPhe [F]119
45012943190 rs1285296766 N.D. synonymousTPhe [F]319
contig referenceCPhe [F]319
45012944191 rs368806701 0.000byCluster YessynonymousTLeu [L]120
contig referenceCLeu [L]120
45012947194 rs767710379 0.000 nonsenseT121
synonymousAArg [R]121
contig referenceCArg [R]121
45012949196 rs752950163 0.000 synonymousGArg [R]321
contig referenceAArg [R]321
45012955202 rs1804885 N.D. YessynonymousTAla [A]323
contig referenceCAla [A]323
45012956203 rs11541966 0.000 YesmissenseCArg [R]124
contig referenceTTrp [W]124
45012960207 rs764268015 0.000 missenseAGlu [E]225
contig referenceGGly [G]225
45012962209 rs1209859447 N.D. missenseALys [K]126
contig referenceGGlu [E]126
45012963210 rs1270972124 N.D. missenseTVal [V]226
contig referenceAGlu [E]226
45012965212 rs1236809201 N.D. missenseALys [K]127
contig referenceGGlu [E]127
45012966213 rs753985225 0.000byFreq missenseCAla [A]227
missenseTVal [V]227
contig referenceAGlu [E]227
45012971218 rs778919542 0.000byFreq missenseCHis [H]129
contig referenceGAsp [D]129
45012976223 rs1175870443 N.D. synonymousTTyr [Y]330
contig referenceCTyr [Y]330
45012977224 rs957075862 N.D. missenseGAla [A]131
contig referenceAThr [T]131
45012978225 rs373038077 0.000byCluster YesmissenseTIle [I]231
contig referenceCThr [T]231
45012979226 rs758241800 0.000byFreq synonymousCThr [T]331
contig referenceTThr [T]331
45012982229 rs990355414 N.D. synonymousTPro [P]332
contig referenceCPro [P]332
45012983230 rs1156453623 N.D. missenseAIle [I]133
contig referenceGVal [V]133
45012992239 rs141274299 0.000byClusterbyFreq YesmissenseCLeu [L]136
contig referenceAMet [M]136
45012993240 rs1209490842 N.D. missenseGArg [R]236
contig referenceTMet [M]236
45012994241 rs746781615 0.000 missenseAIle [I]336
contig referenceGMet [M]336
45012995242 rs867494272 N.D.byCluster missenseTCys [C]137
contig referenceCArg [R]137
45012998245 rs768466340 0.000 nonsenseT138
contig referenceCGln [Q]138
45013007254 rs1473064884 N.D. missenseTCys [C]141
contig referenceCArg [R]141
45013012259 rs1357926094 N.D. synonymousTTyr [Y]342
contig referenceCTyr [Y]342
45013016263 rs146826201 0.000byClusterbyFreq YesmissenseTSer [S]144
contig referenceCPro [P]144
45013017264 rs747721524 0.000 missenseTLeu [L]244
contig referenceCPro [P]244
45013140271 rs769378741 0.000 missenseALeu [L]346
contig referenceTPhe [F]346
45013150281 rs1332986710 N.D. missenseTTrp [W]150
contig referenceCArg [R]150
45013153284 rs892207866 N.D. missenseAThr [T]151
contig referenceGAla [A]151
45013154285 rs566027438 0.000With1000GenomeData0.0002 missenseAAsp [D]251
contig referenceCAla [A]251
45013160291 rs199597323 0.001byClusterbyFreqWith1000GenomeData0.0008 YesmissenseGArg [R]253
contig referenceAGln [Q]253
45013168299 rs1024683308 N.D. missenseCLeu [L]156
contig referenceTPhe [F]156
45013170301 rs1197657756 N.D. -357
45013171302 rs1357527448 N.D. missenseGGly [G]157
contig referenceASer [S]157
45013172303 rs772631777 0.000 missenseAAsn [N]257
missenseCThr [T]257
contig referenceGSer [S]257
45013173304 rs775962228 0.000byFreq synonymousTSer [S]357
contig referenceCSer [S]357
45013174305 rs761040250 0.000 missenseGAla [A]158
contig referenceAThr [T]158
45013175306 rs1287179807 N.D. missenseTMet [M]258
contig referenceCThr [T]258
45013176307 rs768938405 0.000 synonymousCThr [T]358
contig referenceGThr [T]358
45013180311 rs776865777 0.000 missenseTCys [C]160
contig referenceCArg [R]160
45013182313 rs762643585 0.000byClusterbyFreq synonymousTArg [R]360
contig referenceCArg [R]360
45013182313 rs769842621 0.000 frame shift-362
contig referenceCTPro [P]362
45013188319 rs765472159 0.000 synonymousCPro [P]362
contig referenceTPro [P]362
45013191322 rs1307849602 N.D. missenseTAsp [D]363
contig referenceGGlu [E]363
45013192323 rs1321793355 N.D. frame shiftCLeu [L]165
contig reference-Cys [C]165
45013194325 rs750512149 0.000byFreq synonymousTAla [A]364
contig referenceCAla [A]364
45013201332 rs763086647 0.000byFreq nonsenseT167
contig referenceGGlu [E]167
45013205336 rs766486124 0.000 missenseGArg [R]268
contig referenceTLeu [L]268
45013209340 rs1351518385 N.D. synonymousCThr [T]369
contig referenceTThr [T]369
45013213344 rs1341379602 N.D. nonsenseT171
contig referenceCGln [Q]171
45013214345 rs751489215 0.000 missenseGArg [R]271
contig referenceAGln [Q]271
45013296351 rs897084071 N.D. missenseCPro [P]273
contig referenceTLeu [L]273
45013298353 rs1244973056 N.D. missenseTCys [C]174
contig referenceCArg [R]174
45013299354 rs1319990438 N.D. missenseAHis [H]274
contig referenceGArg [R]274
45013308363 rs1131147 N.D. YesmissenseTLeu [L]277
contig referenceCPro [P]277
45013309364 rs747471393 0.000 synonymousGPro [P]377
contig referenceTPro [P]377
45013309364 rs773400923 0.000 frame shift(40bp)Pro [P]378
contig reference-Leu [L]378
45013310365 rs1432847949 N.D. missenseGVal [V]178
contig referenceCLeu [L]178
45013315370 rs1293307559 N.D. synonymousCAsp [D]379
contig referenceTAsp [D]379
45013316371 rs376921379 0.000byCluster YesmissenseTSer [S]180
contig referenceGAla [A]180
45013317372 rs776907084 0.000 missenseGGly [G]280
contig referenceCAla [A]280
45013321376 rs763083464 0.000 -383
45013321376 rs1263378518 N.D. synonymousTAla [A]381
contig referenceCAla [A]381
45013325380 rs762209339 0.000 missenseGVal [V]183
contig referenceAIle [I]183
45013332387 rs1204313185 N.D. missenseTPhe [F]285
contig referenceCSer [S]285
45013333388 rs769981297 0.000byFreq synonymousTSer [S]385
contig referenceCSer [S]385
45013334389 rs1272375360 N.D. missenseAAsn [N]186
contig referenceGAsp [D]186
45013336391 rs370599065 0.000byCluster YessynonymousTAsp [D]386
contig referenceCAsp [D]386
45013341396 rs1463137951 N.D. -290
45013343398 rs1186018443 N.D. missenseAIle [I]189
contig referenceGVal [V]189
45013348403 rs762960327 0.000byFreq synonymousGVal [V]390
contig referenceAVal [V]390
45013349404 rs1423668185 N.D. missenseAThr [T]191
contig referenceCPro [P]191
45013350405 rs766500529 0.000byFreq missenseAHis [H]291
missenseTLeu [L]291
contig referenceCPro [P]291
45013351406 rs11541964 N.D. YessynonymousTPro [P]391
contig referenceCPro [P]391
45013601417 rs1204882356 N.D. missenseAAsp [D]295
contig referenceGGly [G]295
45013603419 rs756948668 0.000 missenseGVal [V]196
contig referenceAMet [M]196
45013607423 rs752730120 N.D. missenseTVal [V]297
contig referenceAGlu [E]297
45013613429 rs764836186 0.000 missenseTIle [I]299
contig referenceCThr [T]299
45013616432 rs199912406 0.002 YesmissenseALys [K]2100
contig referenceTMet [M]2100
45013617433 rs552022258 0.000byClusterbyFreq missenseAIle [I]3100
contig referenceGMet [M]3100
45013618434 rs757892987 0.000byFreq missenseAIle [I]1101
missenseTLeu [L]1101
contig referenceGVal [V]1101
45013620436 rs781566534 0.000byClusterbyFreq synonymousGVal [V]3101
contig referenceAVal [V]3101
45013621437 rs200130031 0.000byClusterbyFreq YesmissenseTSer [S]1102
contig referenceCPro [P]1102
45013624440 rs1063502 N.D. YesmissenseASer [S]1103
contig referenceGGly [G]1103
45013629445 rs756466135 0.000 synonymousGLys [K]3104
contig referenceALys [K]3104
45013630446 rs1430259094 N.D. missenseAArg [R]1105
contig referenceGGly [G]1105
45013632448 rs778150956 0.000byFreq synonymousCGly [G]3105
contig referenceAGly [G]3105
45013634450 rs11541962 0.000 YesmissenseTLeu [L]2106
contig referenceCPro [P]2106
45013635451 rs771320033 0.000 synonymousTPro [P]3106
contig referenceCPro [P]3106
45013642458 rs1293719117 N.D. missenseTSer [S]1109
contig referenceCPro [P]1109
45013649465 rs1366344952 N.D. missenseTLeu [L]2111
contig referenceCPro [P]2111
45013654470 rs774699967 0.000 missenseGGly [G]1113
contig referenceAArg [R]1113
45013655471 rs11541963 N.D.byCluster YesmissenseCThr [T]2113
contig referenceGArg [R]2113
45013659475 rs745957345 0.000 synonymousGGlu [E]3114
contig referenceAGlu [E]3114
45013660476 rs772122654 0.000byFreq missenseALys [K]1115
contig referenceGGlu [E]1115
45013661477 rs1390513446 N.D. missenseGGly [G]2115
contig referenceAGlu [E]2115
45013662478 rs1228234993 N.D. missenseCAsp [D]3115
synonymousAGlu [E]3115
contig referenceGGlu [E]3115
45013668484 rs1323838089 N.D. missenseGGlu [E]3117
contig referenceCAsp [D]3117
45013669485 rs1222649886 N.D. missenseAIle [I]1118
contig referenceCLeu [L]1118
45013671487 rs760607431 0.000 synonymousGLeu [L]3118
contig referenceALeu [L]3118
45013673489 rs937533612 N.D. missenseGGly [G]2119
contig referenceAGlu [E]2119
45013675491 rs763913128 0.000 missenseGGly [G]1120
missenseTCys [C]1120
contig referenceCArg [R]1120
45013676492 rs368635745 0.000byClusterbyFreq YesmissenseAHis [H]2120
contig referenceGArg [R]2120
45013678494 rs761589752 0.000 synonymousTLeu [L]1121
contig referenceCLeu [L]1121
45013680496 rs1374785892 N.D. synonymousGLeu [L]3121
contig referenceALeu [L]3121
45013681497 rs201087307 0.000byClusterbyFreq YesmissenseTTrp [W]1122
contig referenceCArg [R]1122
45013682498 rs111369324 0.001byClusterbyFreqWith1000GenomeData0.0012 YesmissenseAGln [Q]2122
contig referenceGArg [R]2122
45013683499 rs757968697 N.D. synonymousAArg [R]3122
contig referenceGArg [R]3122
45013695511 rs1406852214 N.D. synonymousAVal [V]3126
contig referenceGVal [V]3126
45013696512 rs1361910426 N.D. missenseAIle [I]1127
contig referenceGVal [V]1127
45013698514 rs1165112713 N.D. synonymousGVal [V]3127
contig referenceAVal [V]3127
45013699515 rs757854938 0.000 missenseCPro [P]1128
contig referenceGAla [A]1128
45013700516 rs141792226 0.000byClusterbyFreq YesmissenseAAsp [D]2128
missenseTVal [V]2128
contig referenceCAla [A]2128
45013701517 rs1321987102 N.D. synonymousGAla [A]3128
contig referenceCAla [A]3128
45013707523 rs138585833 0.000byClusterbyFreq YesmissenseTAsp [D]3130
contig referenceGGlu [E]3130
45013713529 rs756694860 N.D. synonymousTGly [G]3132
contig referenceCGly [G]3132
45013714530 rs759934980 0.000 frame shift-Cys [C]1133
contig referenceTATyr [Y]1133
45013714530 rs1296017988 N.D. missenseCHis [H]1133
contig referenceTTyr [Y]1133
45013715531 rs189411788 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGCys [C]2133
contig referenceATyr [Y]2133
45013716532 rs201071299 0.000byClusterbyFreq YessynonymousCTyr [Y]3133
contig referenceTTyr [Y]3133
45013717533 rs202224318 0.000byClusterbyFreq YesmissenseCLeu [L]1134
contig referenceGVal [V]1134
45013718534 rs200402253 0.000byClusterbyFreq YesmissenseAGlu [E]2134
contig referenceTVal [V]2134
45013723539 rs1210773008 N.D. missenseALys [K]1136
contig referenceCGln [Q]1136
45013725541 rs1017961673 N.D. synonymousGGln [Q]3136
contig referenceAGln [Q]3136
45013727543 rs768029000 0.000 CATIle [I]2138
45013733549 rs746046857 0.000 missenseTIle [I]2139
contig referenceCThr [T]2139
45013734550 rs961170483 N.D. synonymousAThr [T]3139
synonymousGThr [T]3139
synonymousTThr [T]3139
contig referenceCThr [T]3139
45013735551 rs372738463 0.000byClusterbyFreq YesmissenseGVal [V]1140
contig referenceCLeu [L]1140
45013739555 rs1246095461 N.D. missenseAAsn [N]2141
contig referenceCThr [T]2141
45013741557 rs780227281 0.000 nonsenseT1142
contig referenceCArg [R]1142
45013742558 rs1182234844 N.D. missenseAGln [Q]2142
contig referenceGArg [R]2142
45013747563 rs1412728348 N.D. nonsenseT1144
contig referenceCArg [R]1144
45013748564 rs747026225 0.000byFreq missenseAGln [Q]2144
contig referenceGArg [R]2144
45013759575 rs147374926 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTCys [C]1148
contig referenceCArg [R]1148
45013760576 rs756944766 0.000 missenseAHis [H]2148
contig referenceGArg [R]2148
45013766582 rs143390436 0.000byClusterbyFreq YesmissenseTLeu [L]2150
contig referenceCPro [P]2150
45013767583 rs2234479 0.009byClusterbyFreqWith1000GenomeData0.0028 YessynonymousAPro [P]3150
contig referenceGPro [P]3150
45013768584 rs11541960 N.D. YessynonymousTLeu [L]1151
contig referenceCLeu [L]1151
45013771587 rs772886981 0.000 missenseGVal [V]1152
contig referenceAIle [I]1152
45013780596 rs1457521997 N.D. missenseAThr [T]1155
contig referenceGAla [A]1155
45013784600 rs762617943 0.000byFreq missenseAAsp [D]2156
contig referenceGGly [G]2156
45013785601 rs753220529 0.000 frame shiftGGly [G]3157
contig reference-Ala [A]3157
45013787603 rs765926268 0.000 missenseTVal [V]2157
contig referenceCAla [A]2157
45013788604 rs751124479 0.000 synonymousAAla [A]3157
contig referenceCAla [A]3157
45013913612 rs150702733 0.000byCluster YesmissenseTIle [I]2160
contig referenceCThr [T]2160
45013914613 rs1189856533 N.D. synonymousTThr [T]3160
contig referenceCThr [T]3160
45013923622 rs1478059713 N.D. synonymousCThr [T]3163
synonymousGThr [T]3163
contig referenceAThr [T]3163
45013926625 rs1172569970 N.D. synonymousTTyr [Y]3164
contig referenceCTyr [Y]3164
45013927626 rs1393799880 N.D. missenseGVal [V]1165
contig referenceAMet [M]1165
45013940639 rs1432092578 N.D. missenseCAla [A]2169
contig referenceGGly [G]2169
45013942641 rs766639207 0.000 missenseASer [S]1170
contig referenceGGly [G]1170
45013944643 rs1193351328 N.D. synonymousGGly [G]3170
contig referenceCGly [G]3170
45013947646 rs373240772 N.D. YessynonymousGSer [S]3171
contig referenceASer [S]3171
45013949648 rs1467769295 N.D. missenseAAsn [N]2172
contig referenceGSer [S]2172
45013952651 rs1190014573 N.D. missenseAAsn [N]2173
contig referenceCThr [T]2173
45013954653 rs751667278 0.000 missenseGVal [V]1174
contig referenceAMet [M]1174
45013955654 rs755082661 0.000byClusterbyFreq missenseALys [K]2174
missenseCThr [T]2174
contig referenceTMet [M]2174
45013956655 rs781200856 0.000 missenseAIle [I]3174
contig referenceGMet [M]3174
45013969668 rs878994302 N.D. missenseTCys [C]1179
contig referenceCArg [R]1179
45013970669 rs748209205 0.000 missenseAHis [H]2179
contig referenceGArg [R]2179
45013979678 rs1435841164 N.D. missenseGCys [C]2182
contig referenceATyr [Y]2182
45013983682 rs1480976501 N.D. synonymousAGln [Q]3183
contig referenceGGln [Q]3183
45013990689 rs11541961 N.D. YesnonsenseT1186
contig referenceCGln [Q]1186
45013995694 rs780519904 N.D. synonymousCAla [A]3187
contig referenceTAla [A]3187
45013998697 rs954955531 N.D. synonymousCSer [S]3188
contig referenceTSer [S]3188
45014001700 rs370302165 0.000byCluster YesmissenseGGln [Q]3189
contig referenceCHis [H]3189
45014003702 rs756089330 0.000 missenseGArg [R]2190
contig referenceAGln [Q]2190
45014004703 rs777686808 0.000 synonymousAGln [Q]3190
contig referenceGGln [Q]3190
45014010709 rs1367228474 N.D. synonymousALeu [L]3192
contig referenceTLeu [L]3192
45014011710 rs749167939 0.000byFreq missenseTCys [C]1193
contig referenceCArg [R]1193
45014013712 rs770562584 0.000byFreq synonymousTArg [R]3193
contig referenceCArg [R]3193
45014020719 rs1011243659 N.D. missenseGAla [A]1196
contig referenceAThr [T]1196
45014032731 rs1041509524 N.D. missenseAIle [I]1200
contig referenceGVal [V]1200
45014034733 rs774080899 0.000 synonymousGVal [V]3200
contig referenceCVal [V]3200
45014037736 rs2228084 0.138byClusterbyFreqWith1000GenomeData0.0954 YessynonymousGPro [P]3201
contig referenceAPro [P]3201
45014038737 rs1432218753 N.D. missenseCHis [H]1202
contig referenceTTyr [Y]1202
45014041740 rs1250530949 N.D. synonymousTLeu [L]1203
contig referenceCLeu [L]1203
45014050749 rs771824413 0.000 nonsenseT1206
contig referenceCGln [Q]1206
45014053752 rs1433611129 N.D. missenseAMet [M]1207
contig referenceGVal [V]1207
45014064763 rs775180273 0.000byFreq synonymousGGly [G]3210
contig referenceTGly [G]3210
45014066765 rs760256270 0.000byFreq missenseGGly [G]2211
contig referenceCAla [A]2211
45014067766 rs1274192376 N.D. synonymousGAla [A]3211
synonymousTAla [A]3211
contig referenceCAla [A]3211
45014069768 rs1460766783 N.D. frame shift-Arg [R]2212
contig referenceAGln [Q]2212
45014439770 rs1330674245 N.D. missenseAThr [T]1213
contig referenceGAla [A]1213
45014450781 rs1013135823 N.D. frame shiftT3218
contig reference-Glu [E]3218
45014452783 rs1448767323 N.D. missenseCSer [S]2217
contig referenceTPhe [F]2217
45014453784 rs775266851 0.000 synonymousCPhe [F]3217
contig referenceTPhe [F]3217
45014455786 rs966681783 N.D. missenseGGly [G]2218
contig referenceAGlu [E]2218
45014458789 rs982293378 N.D. missenseTPhe [F]2219
contig referenceCSer [S]2219
45014466797 rs746529913 0.000byFreq missenseCArg [R]1222
missenseTTrp [W]1222
contig referenceGGly [G]1222
45014467798 rs1202661859 N.D. missenseTVal [V]2222
contig referenceGGly [G]2222
45014477808 rs370615357 0.000byClusterbyFreq YessynonymousTGly [G]3225
contig referenceCGly [G]3225
45014478809 rs1246644132 N.D. missenseTSer [S]1226
contig referenceCPro [P]1226
45014481812 rs546150911 0.000byCluster missenseGGlu [E]1227
contig referenceCGln [Q]1227
45014486817 rs1265026315 N.D. synonymousALeu [L]3228
contig referenceCLeu [L]3228
45014491822 rs1186156258 N.D. missenseGSer [S]2230
contig referenceAAsn [N]2230
45014494825 rs771447828 0.000 missenseCThr [T]2231
missenseGArg [R]2231
contig referenceALys [K]2231
45014495826 rs143180539 0.000byClusterbyFreq YesmissenseCAsn [N]3231
synonymousALys [K]3231
contig referenceGLys [K]3231
45014499830 rs1016565272 N.D. missenseTSer [S]1233
contig referenceGAla [A]1233
45014501832 rs767788597 0.000 synonymousGAla [A]3233
contig referenceAAla [A]3233
45014502833 rs752860608 0.000byFreq synonymousTLeu [L]1234
contig referenceCLeu [L]1234
45014505836 rs141312224 0.000byCluster YesmissenseTSer [S]1235
contig referenceCPro [P]1235
45014507838 rs1228380065 N.D. synonymousGPro [P]3235
contig referenceTPro [P]3235
45014514845 rs372890845 0.000byClusterbyFreq YesmissenseTCys [C]1238
contig referenceCArg [R]1238
45014515846 rs928217684 N.D. missenseAHis [H]2238
contig referenceGArg [R]2238
45014518849 rs777908753 N.D. missenseTVal [V]2239
contig referenceAAsp [D]2239
45014526857 rs1300306270 N.D. missenseGGlu [E]1242
contig referenceALys [K]1242
45014531862 rs764027948 0.000 synonymousGGln [Q]3243
contig referenceAGln [Q]3243
45014532863 rs1413925292 N.D. missenseAMet [M]1244
contig referenceGVal [V]1244
45014538869 rs568156973 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]1246
contig referenceGAla [A]1246
45014540871 rs757178659 0.000 synonymousTAla [A]3246
contig referenceCAla [A]3246
45014543874 rs778905179 0.000 synonymousAArg [R]3247
contig referenceGArg [R]3247
45014545876 rs1368336895 N.D. missenseCSer [S]2248
contig referenceTLeu [L]2248
45014547878 rs137978913 0.000byClusterbyFreq YesmissenseTTrp [W]1249
contig referenceCArg [R]1249
45014548879 rs758208198 0.000byFreq missenseAGln [Q]2249
contig referenceGArg [R]2249
45014550881 rs200337294 0.000byClusterWith1000GenomeData0.0002 YesnonsenseT1250
missenseALys [K]1250
contig referenceGGlu [E]1250
45014551882 rs1257087108 N.D. missenseGGly [G]2250
contig referenceAGlu [E]2250
45014554885 rs375427309 0.000byClusterbyFreq YesmissenseGGly [G]2251
contig referenceCAla [A]2251
45014560891 rs36033115 0.012byClusterbyFreqWith1000GenomeData0.0042 YesmissenseAGln [Q]2253
contig referenceTLeu [L]2253
45014563894 rs149253343 0.000byCluster YesmissenseTVal [V]2254
contig referenceCAla [A]2254
45014569900 rs747663184 0.000 missenseCAla [A]2256
contig referenceTVal [V]2256
45014736908 rs1489544424 N.D. missenseCLeu [L]1259
contig referenceAIle [I]1259
45014738910 rs894143214 N.D. synonymousTIle [I]3259
contig referenceCIle [I]3259
45014740912 rs1483459837 N.D. missenseCThr [T]2260
contig referenceTIle [I]2260
45014741913 rs751378883 0.000byFreq missenseGMet [M]3260
contig referenceCIle [I]3260
45014750922 rs754626542 0.000 synonymousALys [K]3263
contig referenceGLys [K]3263
45014756928 rs1191638396 N.D. synonymousAGly [G]3265
contig referenceGGly [G]3265
45014758930 rs780897381 0.000 missenseCPro [P]2266
missenseGArg [R]2266
contig referenceAHis [H]2266
45014762934 rs1804886 N.D. YesmissenseALeu [L]3267
contig referenceTPhe [F]3267
45014766938 rs747674229 0.000 synonymousTLeu [L]1269
contig referenceCLeu [L]1269
45014770942 rs1483189227 N.D. missenseGGly [G]2270
contig referenceAGlu [E]2270
45014772944 rs769292697 0.000 missenseALys [K]1271
contig referenceGGlu [E]1271
45014774946 rs535589674 0.000With1000GenomeData0.0002 synonymousAGlu [E]3271
contig referenceGGlu [E]3271
45014781953 rs1256983025 N.D. nonsenseT1274
contig referenceCGln [Q]1274
45014784956 rs1459066096 N.D. missenseAThr [T]1275
contig referenceGAla [A]1275
45014785957 rs1293633980 N.D. missenseTVal [V]2275
contig referenceCAla [A]2275
45014789961 rs1235820665 N.D. synonymousTGly [G]3276
contig referenceCGly [G]3276
45014793965 rs369590048 0.000byCluster YesmissenseALys [K]1278
contig referenceGGlu [E]1278
45014795967 rs1439394771 N.D. synonymousAGlu [E]3278
contig referenceGGlu [E]3278
45014808980 rs781014483 0.000 frame shift-Ser [S]1284
contig referenceGACTGTrp [W]1284
45014809981 rs747391799 0.000 missenseCAla [A]2283
contig referenceAAsp [D]2283
45014815987 rs1285995869 N.D. missenseTIle [I]2285
contig referenceCThr [T]2285
45014816988 rs554505259 0.000 synonymousGThr [T]3285
contig referenceAThr [T]3285
45014819991 rs748064104 0.000 frame shift-Pro [P]3287
contig referenceGAla [A]3287
45014823995 rs1239441390 N.D. missenseTSer [S]1288
contig referenceCPro [P]1288
45014825997 rs776854879 0.000 synonymousGPro [P]3288
contig referenceAPro [P]3288
45014827999 rs1222532441 N.D. missenseGArg [R]2289
contig referenceALys [K]2289
450148281000 rs3209914 N.D. YessynonymousALys [K]3289
contig referenceGLys [K]3289
450148301002 rs201500522 N.D.byClusterWith1000GenomeData YesmissenseGArg [R]2290
contig referenceALys [K]2290
450148321004 rs761801485 0.000 missenseCPro [P]1291
contig referenceGAla [A]1291
450148331005 rs765318749 0.000byFreq missenseTVal [V]2291
contig referenceCAla [A]2291
450148361008 rs200535330 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGln [Q]2292
contig referenceGArg [R]2292
450149411010 rs774377172 0.000 missenseALys [K]1293
missenseCGln [Q]1293
contig referenceGGlu [E]1293
450149431012 rs140191668 0.000byCluster YessynonymousAGlu [E]3293
contig referenceGGlu [E]3293
450149511020 rs1449204299 N.D. missenseAGlu [E]2296
missenseCAla [A]2296
contig referenceGGly [G]2296
450149551024 rs201618542 0.000byClusterWith1000GenomeData0.0002 YesmissenseTAsn [N]3297
contig referenceGLys [K]3297
450149571026 rs767307327 0.000byFreq missenseTMet [M]2298
contig referenceCThr [T]2298
450149581027 rs1161548726 N.D. synonymousAThr [T]3298
contig referenceGThr [T]3298
450149641033 rs546357273 0.000byFreqWith1000GenomeData0.0002 synonymousGThr [T]3300
contig referenceAThr [T]3300
450149661035 rs1289097801 N.D. nonsenseA2301
contig referenceTLeu [L]2301
450149711040 rs964670864 N.D. missenseASer [S]1303
contig referenceGGly [G]1303
450149721041 rs17849533 N.D. YesmissenseTVal [V]2303
contig referenceGGly [G]2303
450149731042 rs1350011975 N.D. synonymousAGly [G]3303
contig referenceCGly [G]3303
450149781047 rs1282052639 N.D. missenseGArg [R]2305
contig referenceTLeu [L]2305
450149821051 rs763727883 0.000 missenseAGlu [E]3306
contig referenceCAsp [D]3306
450149831052 rs1211340920 N.D. missenseGAla [A]1307
missenseTSer [S]1307
contig referenceCPro [P]1307
450149851054 rs753400632 0.000 synonymousGPro [P]3307
contig referenceCPro [P]3307
450149911060 rs1484498915 N.D. synonymousTAla [A]3309
contig referenceCAla [A]3309
450149941063 rs1190291472 N.D. synonymousALeu [L]3310
contig referenceGLeu [L]3310
450149991068 rs1233001529 N.D. missenseTVal [V]2312
contig referenceCAla [A]2312
450150001069 rs377421102 0.000byCluster YessynonymousGAla [A]3312
contig referenceAAla [A]3312
450153371076 rs1193521376 N.D. missenseALys [K]1315
contig referenceGGlu [E]1315
450153451084 rs771870593 0.000byFreq synonymousTIle [I]3317
contig referenceCIle [I]3317
450153461085 rs116233118 0.003byClusterbyFreqWith1000GenomeData0.0040 YesmissenseAArg [R]1318
missenseTTrp [W]1318
contig referenceGGly [G]1318
450153571096 rs1178215746 N.D. synonymousTVal [V]3321
contig referenceGVal [V]3321
450153581097 rs760445317 0.000 missenseGGlu [E]1322
contig referenceALys [K]1322
450153651104 rs763746230 0.000 missenseALys [K]2324
missenseCThr [T]2324
contig referenceTMet [M]2324
450153711110 rs753421067 0.000 missenseGGly [G]2326
contig referenceAAsp [D]2326
450153751114 rs776818772 N.D.byCluster synonymousTAsp [D]3327
contig referenceCAsp [D]3327
450153821121 rs1408369472 N.D. missenseGAla [A]1330
contig referenceCPro [P]1330
450153851124 rs761344383 0.000byFreq missenseGAsp [D]1331
missenseTTyr [Y]1331
contig referenceCHis [H]1331
450153861125 rs764676360 0.000 missenseGArg [R]2331
contig referenceAHis [H]2331
450153881127 rs749879899 0.000 missenseTCys [C]1332
contig referenceCArg [R]1332
450153941133 rs781546067 0.000 missenseCLeu [L]1334
contig referenceAIle [I]1334
450153991138 rs1230341916 N.D. synonymousTAla [A]3335
contig referenceCAla [A]3335
450154011140 rs753164437 0.000 missenseGSer [S]2336
contig referenceAAsn [N]2336
450154031142 rs1050758 N.D. YesmissenseGVal [V]1337
contig referenceCLeu [L]1337
450154091148 rs756493496 0.000 missenseTTyr [Y]1339
contig referenceCHis [H]1339
450154101149 rs778149448 0.000byFreq missenseGArg [R]2339
contig referenceAHis [H]2339
450154111150 rs1442858993 N.D. synonymousCHis [H]3339
contig referenceTHis [H]3339
450154121151 rs770934639 0.000 frame shift-Phe [F]1341
contig referenceGLeu [L]1341
450154141153 rs1468524744 N.D. synonymousAGly [G]3340
contig referenceGGly [G]3340
450154151154 rs1207119325 N.D. missenseGVal [V]1341
contig referenceCLeu [L]1341
450154211160 rs1213689830 N.D. missenseGAla [A]1343
contig referenceCPro [P]1343
450154221161 rs1251680332 N.D. missenseTLeu [L]2343
contig referenceCPro [P]2343
450154231162 rs749484527 0.000 synonymousCPro [P]3343
contig referenceTPro [P]3343
450154251164 rs1194365342 N.D. missenseCAla [A]2344
contig referenceAAsp [D]2344
450154271166 rs142869188 0.000byClusterbyFreq YesmissenseGVal [V]1345
contig referenceAMet [M]1345
450154301169 rs779086956 0.000 missenseAAsn [N]1346
contig referenceGAsp [D]1346
450154321171 rs374609755 0.000byCluster YessynonymousTAsp [D]3346
contig referenceCAsp [D]3346
450154341173 rs772100256 0.000 missenseTLeu [L]2347
contig referenceCPro [P]2347
450154421181 rs1035464553 N.D. missenseTLeu [L]1350
contig referenceGVal [V]1350
450154431182 rs775229050 0.000 missenseCAla [A]2350
contig referenceTVal [V]2350
450154471186 rs3209916 0.000byFreq YessynonymousTGly [G]3351
contig referenceCGly [G]3351
450154481187 rs140927480 0.000byClusterbyFreq YesmissenseAThr [T]1352
contig referenceGAla [A]1352
450154501189 rs1437124293 N.D. synonymousTAla [A]3352
contig referenceCAla [A]3352
450154541193 rs776286107 0.000 missenseAMet [M]1354
contig referenceGVal [V]1354
450154571196 rs1342687164 N.D. missenseTTyr [Y]1355
contig referenceGAsp [D]1355
450154581197 rs761501762 0.000 missenseCAla [A]2355
contig referenceAAsp [D]2355
450154591198 rs959886209 N.D. missenseGGlu [E]3355
contig referenceTAsp [D]3355
450154601199 rs764767633 0.000 missenseAThr [T]1356
contig referenceGAla [A]1356
450154631202 rs1455346172 N.D. missenseAMet [M]1357
contig referenceGVal [V]1357
450154691208 rs1334995971 N.D. missenseGGlu [E]1359
contig referenceALys [K]1359
450154691208 rs1387393733 N.D. AACGln [Q]1359
450154721211 rs1232158500 N.D. frame shift-Val [V]1361
contig referenceCACTSer [S]1361
450154761215 rs1270670642 N.D. frame shiftAThr [T]2362
contig reference-Arg [R]2362
450154781217 rs750017956 0.000 missenseTCys [C]1362
contig referenceCArg [R]1362
450154791218 rs762357276 0.000byClusterbyFreq missenseAHis [H]2362
contig referenceGArg [R]2362
450154811220 rs768082822 0.000 missenseGVal [V]1363
synonymousTLeu [L]1363
contig referenceCLeu [L]1363
450154871226 rs753192121 0.000byFreq nonsenseT1365
contig referenceCArg [R]1365