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SNP linked to Gene (geneID:43849) Via Contig Annotation

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

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_005258951.3minus strandXP_005259008.1reverseNT_011109.17GRCh38.p7<- currently shown
XM_005258950.3minus strandXP_005259007.1reverseNT_011109.17GRCh38.p7View snp on GeneModel
NM_145895.1minus strandNP_665902.1reverseNT_011109.17GRCh38.p7View snp on GeneModel
NM_145894.1minus strandNP_665901.1reverseNT_011109.17GRCh38.p7View snp on GeneModel
NM_019598.2minus strandNP_062544.1reverseNT_011109.17GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_011109.17XM_005258951.3XP_005259008.1reverseminus strand306, 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
51029162875 rs755159795 0.000 missenseGArg [R]2253
contig referenceCPro [P]2253
51029163874 rs1393503853 N.D. missenseAThr [T]1253
contig referenceCPro [P]1253
51029173864 rs1307211540 N.D. missenseGLys [K]3249
contig referenceCAsn [N]3249
51029181856 rs780862207 0.000 missenseTTyr [Y]1247
contig referenceAAsn [N]1247
51029183854 rs747927555 0.000 nonsenseA2246
contig referenceGTrp [W]2246
51029189848 rs769651450 0.000byFreq missenseTIle [I]2244
contig referenceCThr [T]2244
51029190847 rs1293283976 N.D. missenseGAla [A]1244
contig referenceAThr [T]1244
51029196841 rs149219406 0.001byClusterbyFreq missenseAMet [M]1242
contig referenceCLeu [L]1242
51029202835 rs143216918 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCLeu [L]1240
missenseTPhe [F]1240
contig referenceGVal [V]1240
51029205832 rs770553376 0.000 missenseTPhe [F]1239
contig referenceCLeu [L]1239
51029207830 rs1261136164 N.D. missenseGSer [S]2238
contig referenceCThr [T]2238
51029344822 rs770136691 0.000byFreq missenseGTrp [W]3235
contig referenceCCys [C]3235
51029345821 rs1359414714 N.D. missenseATyr [Y]2235
contig referenceGCys [C]2235
51029347819 rs148309880 0.000 YessynonymousCIle [I]3234
contig referenceTIle [I]3234
51029348818 rs773497666 0.000byFreq missenseCThr [T]2234
contig referenceTIle [I]2234
51029350816 rs1004897692 N.D. synonymousCTyr [Y]3233
contig referenceTTyr [Y]3233
51029354812 rs774412030 0.000 missenseAAsn [N]2232
missenseTIle [I]2232
contig referenceCThr [T]2232
51029359807 rs1363508796 N.D. synonymousTVal [V]3230
contig referenceCVal [V]3230
51029361805 rs376079006 0.000byCluster YesmissenseAIle [I]1230
missenseTPhe [F]1230
contig referenceGVal [V]1230
51029362804 rs774324585 0.000 synonymousGGly [G]3229
contig referenceAGly [G]3229
51029364802 rs759630589 0.000 missenseAArg [R]1229
contig referenceGGly [G]1229
51029365801 rs1308361856 N.D. synonymousCPro [P]3228
contig referenceTPro [P]3228
51029366800 rs767682079 0.000 missenseTLeu [L]2228
contig referenceCPro [P]2228
51029367799 rs1265174571 N.D. missenseAThr [T]1228
contig referenceCPro [P]1228
51029368798 rs752951957 0.000 synonymousAIle [I]3227
contig referenceCIle [I]3227
51029370796 rs1209729832 N.D. missenseGVal [V]1227
contig referenceAIle [I]1227
51029374792 rs965555670 N.D. synonymousCAsp [D]3225
contig referenceTAsp [D]3225
51029375791 rs1235800888 N.D. missenseTVal [V]2225
contig referenceAAsp [D]2225
51029378788 rs1486923075 N.D. missenseGArg [R]2224
missenseTLeu [L]2224
contig referenceAGln [Q]2224
51029384782 rs756042720 0.000 missenseATyr [Y]2222
contig referenceGCys [C]2222
51029387779 rs763988362 0.000 missenseTLeu [L]2221
contig referenceCPro [P]2221
51029388778 rs1477024465 N.D. missenseTSer [S]1221
contig referenceCPro [P]1221
51029389777 rs753632863 0.000byFreq synonymousTGly [G]3220
contig referenceGGly [G]3220
51029394772 rs1258296649 N.D. missenseAMet [M]1219
missenseCLeu [L]1219
contig referenceGVal [V]1219
51029398768 rs1426376558 N.D. synonymousAGly [G]3217
contig referenceGGly [G]3217
51029399767 rs757286238 0.000 missenseTVal [V]2217
contig referenceGGly [G]2217
51029400766 rs778874328 0.000 missenseAArg [R]1217
missenseCArg [R]1217
contig referenceGGly [G]1217
51029401765 rs745414637 0.000byFreq nonsenseA3216
missenseTCys [C]3216
contig referenceGTrp [W]3216
51029402764 rs1413511185 N.D. nonsenseA2216
contig referenceGTrp [W]2216
51029404762 rs1282050374 N.D. synonymousTSer [S]3215
contig referenceCSer [S]3215
51029406760 rs779637163 0.000 missenseAThr [T]1215
contig referenceTSer [S]1215
51029409757 rs997212069 N.D. missenseTLeu [L]1214
contig referenceGVal [V]1214
51029410756 rs746675766 0.000byFreq synonymousALeu [L]3213
contig referenceGLeu [L]3213
51029418748 rs1338360606 N.D. nonsenseT1211
contig referenceCGln [Q]1211
51029420745 rs772904124 0.000byFreq frame shiftCPro [P]1210
contig reference-Leu [L]1210
51029425740 rs746582943 0.000byFreq frame shiftGSer [S]2209
contig reference-Val [V]2209
51029426740 rs1344119462 N.D. missenseCAla [A]2208
contig referenceGGly [G]2208
51029428738 rs200566934 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAGly [G]3207
synonymousCGly [G]3207
contig referenceGGly [G]3207
51029430735 rs770476908 0.000byFreq frame shift-Trp [W]3206
contig referenceTGCys [C]3206
51029431735 rs370146789 0.000byClusterbyFreq YesmissenseGTrp [W]3206
synonymousCCys [C]3206
contig referenceTCys [C]3206
51029433733 rs1217478877 N.D. missenseCArg [R]1206
missenseGGly [G]1206
contig referenceTCys [C]1206
51029435731 rs374448647 0.000byCluster YesmissenseCAla [A]2205
contig referenceTVal [V]2205
51029436730 rs1394889814 N.D. missenseCLeu [L]1205
contig referenceGVal [V]1205
51029437729 rs774901187 0.000byFreq synonymousCLeu [L]3204
contig referenceGLeu [L]3204
51029438728 rs759594293 0.000 missenseCPro [P]2204
contig referenceTLeu [L]2204
51029438727 rs776238278 0.000byFreq frame shiftCPro [P]1204
contig reference-Leu [L]1204
51029439727 rs1399890674 N.D. frame shift-Trp [W]1204
contig referenceCLeu [L]1204
51029439727 rs1487582660 N.D. synonymousTLeu [L]1204
contig referenceCLeu [L]1204
51029440726 rs1202278652 N.D. synonymousTPro [P]3203
contig referenceCPro [P]3203
51029444722 rs1171620911 N.D. missenseTVal [V]2202
contig referenceGGly [G]2202
51029450715 rs759564611 0.000 frame shiftTPhe [F]1200
contig reference-Ser [S]1200
51029453713 rs767632529 0.000 missenseCAla [A]2199
contig referenceAAsp [D]2199
51029454712 rs1409744695 N.D. missenseAAsn [N]1199
contig referenceGAsp [D]1199
51029457709 rs199952513 0.000byClusterbyFreq YesmissenseTCys [C]1198
contig referenceGGly [G]1198
51030792704 rs140609488 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseATyr [Y]2196
contig referenceGCys [C]2196
51030793703 rs1447793439 N.D. missenseCArg [R]1196
contig referenceTCys [C]1196
51030801695 rs1181282557 N.D. missenseGArg [R]2193
contig referenceAGln [Q]2193
51030802694 rs1308880627 N.D. nonsenseT1193
contig referenceCGln [Q]1193
51030804692 rs1465659517 N.D. missenseAGlu [E]2192
contig referenceGGly [G]2192
51030805691 rs1355724920 N.D. missenseAArg [R]1192
contig referenceGGly [G]1192
51030806690 rs954024709 N.D. synonymousAPro [P]3191
contig referenceGPro [P]3191
51030807689 rs201679836 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]2191
missenseTLeu [L]2191
contig referenceCPro [P]2191
51030811685 rs908157616 N.D. missenseAIle [I]1190
contig referenceGVal [V]1190
51030812684 rs750124710 0.000 synonymousTGly [G]3189
contig referenceCGly [G]3189
51030814682 rs762968082 0.000 missenseASer [S]1189
contig referenceGGly [G]1189
51030815681 rs145723658 0.000byClusterbyFreq YessynonymousTGly [G]3188
contig referenceCGly [G]3188
51030818678 rs1458547554 N.D. synonymousGAla [A]3187
contig referenceAAla [A]3187
51030821675 rs751109578 0.000byFreq nonsenseA3186
contig referenceTCys [C]3186
51030822674 rs985876904 N.D. missenseCSer [S]2186
contig referenceGCys [C]2186
51030823673 rs1235994259 N.D. missenseASer [S]1186
contig referenceTCys [C]1186
51030824672 rs138010090 0.000byCluster YessynonymousAVal [V]3185
contig referenceGVal [V]3185
51030827669 rs1056662922 N.D. missenseTIle [I]3184
contig referenceGMet [M]3184
51030828668 rs915273188 N.D. missenseCThr [T]2184
contig referenceTMet [M]2184
51030830666 rs780881428 0.000 missenseGLys [K]3183
synonymousTAsn [N]3183
contig referenceCAsn [N]3183
51030831665 rs752343383 0.000 missenseGSer [S]2183
contig referenceAAsn [N]2183
51030836660 rs535806745 0.000byFreq synonymousAThr [T]3181
synonymousCThr [T]3181
contig referenceGThr [T]3181
51030837659 rs751761028 0.000byCluster missenseTMet [M]2181
contig referenceCThr [T]2181
51030845651 rs1330859866 N.D. frame shift-Glu [E]3179
contig referenceGArg [R]3179
51030846650 rs1398419965 N.D. missenseAGlu [E]2178
contig referenceGGly [G]2178
51030847649 rs772669730 0.000byClusterbyFreq missenseAArg [R]1178
contig referenceGGly [G]1178
51030848648 rs142528115 0.000byClusterbyFreq YessynonymousGPro [P]3177
synonymousTPro [P]3177
contig referenceCPro [P]3177
51030850646 rs768848228 0.000byFreq missenseAThr [T]1177
contig referenceCPro [P]1177
51030860636 rs146007197 0.000byCluster YessynonymousCHis [H]3173
contig referenceTHis [H]3173
51030861635 rs773610066 N.D. missenseGArg [R]2173
contig referenceAHis [H]2173
51030864632 rs1280657401 N.D. missenseATyr [Y]2172
contig referenceGCys [C]2172
51030866630 rs765239646 0.000byFreq frame shift-Ala [A]3172
contig referenceCCys [C]3172
51030867629 rs762137085 0.000 missenseTIle [I]2171
contig referenceCThr [T]2171
51030868628 rs769858122 0.000 missenseGAla [A]1171
contig referenceAThr [T]1171
51030872624 rs773089754 0.000 synonymousCHis [H]3169
contig referenceTHis [H]3169
51030875621 rs762624378 0.000 synonymousTSer [S]3168
contig referenceCSer [S]3168
51030876620 rs755188571 0.000byFreq missenseTPhe [F]2168
contig referenceCSer [S]2168
51030879617 rs1472646012 N.D. missenseCAla [A]2167
contig referenceTVal [V]2167
51030880616 rs1440261608 N.D. missenseAIle [I]1167
contig referenceGVal [V]1167
51030883613 rs138617915 0.000 YesmissenseGVal [V]1166
contig referenceAIle [I]1166
51030890606 rs751485779 0.000 missenseALys [K]3163
synonymousTAsn [N]3163
contig referenceCAsn [N]3163
51030894602 rs1263827760 N.D. missenseGArg [R]2162
contig referenceTLeu [L]2162
51030895601 rs759114452 0.000 missenseTPhe [F]1162
contig referenceCLeu [L]1162
51030896600 rs1168238053 N.D. missenseGTrp [W]3161
contig referenceCCys [C]3161
51030898598 rs1431230079 N.D. missenseCArg [R]1161
contig referenceTCys [C]1161
51030899596 rs775495856 0.000byFreq frame shift(17bp)His [H]2160
contig reference-Gln [Q]2160
51030899597 rs978404091 N.D. synonymousAGln [Q]3160
contig referenceGGln [Q]3160
51030900596 rs149325740 0.000byCluster YesmissenseGArg [R]2160
contig referenceAGln [Q]2160
51030902594 rs1374883441 N.D. synonymousTLeu [L]3159
contig referenceCLeu [L]3159
51030907589 rs370106471 0.000byCluster YesmissenseAMet [M]1158
contig referenceCLeu [L]1158
51030911585 rs755816483 0.000byFreq synonymousAPro [P]3156
contig referenceGPro [P]3156
51030912584 rs777254569 0.000byFreq missenseTLeu [L]2156
contig referenceCPro [P]2156
51030918578 rs1341714211 N.D. missenseTLeu [L]2154
contig referenceCPro [P]2154
51030920576 rs1359605154 N.D. synonymousTAsn [N]3153
contig referenceCAsn [N]3153
51031876574 rs1379335462 N.D. missenseGAsp [D]1153
contig referenceAAsn [N]1153
51031877573 rs1227668128 N.D. synonymousAArg [R]3152
contig referenceGArg [R]3152
51031878572 rs761388782 0.000byFreq missenseAGln [Q]2152
contig referenceGArg [R]2152
51031879571 rs368392387 0.000byClusterbyFreq YesmissenseTTrp [W]1152
contig referenceCArg [R]1152
51031881569 rs1219032019 N.D. missenseTLeu [L]2151
contig referenceCPro [P]2151
51031885565 rs752074137 0.000 missenseAAsn [N]1150
contig referenceCHis [H]1150
51031889561 rs369423371 0.000byClusterWith1000GenomeData0.0002 YessynonymousTThr [T]3148
contig referenceCThr [T]3148
51031890560 rs1202769996 N.D. missenseTIle [I]2148
contig referenceCThr [T]2148
51031896554 rs767936758 0.000 missenseAAsp [D]2146
contig referenceGGly [G]2146
51031902548 rs1013530063 N.D. missenseTVal [V]2144
contig referenceGGly [G]2144
51031907543 rs753008611 0.000 synonymousTVal [V]3142
contig referenceCVal [V]3142
51031909541 rs756567819 0.000 missenseAIle [I]1142
contig referenceGVal [V]1142
51031910540 rs1478985677 N.D. synonymousTHis [H]3141
contig referenceCHis [H]3141
51031913537 rs777842958 0.000 synonymousTCys [C]3140
contig referenceCCys [C]3140
51031914536 rs1295081859 N.D. missenseATyr [Y]2140
contig referenceGCys [C]2140
51031918532 rs754137431 0.000byFreq missenseALys [K]1139
missenseCGln [Q]1139
contig referenceGGlu [E]1139
51031919531 rs778992147 0.000byFreq synonymousAThr [T]3138
synonymousTThr [T]3138
contig referenceCThr [T]3138
51031921529 rs772006967 0.000 missenseTSer [S]1138
contig referenceAThr [T]1138
51031923527 rs866955764 N.D. missenseAAsp [D]2137
contig referenceGGly [G]2137
51031924526 rs1295958711 N.D. missenseASer [S]1137
contig referenceGGly [G]1137
51031927523 rs376394237 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1136
contig referenceGAla [A]1136
51031928522 rs746770863 0.000byFreq synonymousTThr [T]3135
contig referenceCThr [T]3135
51031932518 rs768548547 0.000 missenseAGlu [E]2134
contig referenceCAla [A]2134
51031941509 rs1342322691 N.D. missenseGSer [S]2131
contig referenceAAsn [N]2131
51031945505 rs776118702 0.000 missenseAThr [T]1130
contig referenceCPro [P]1130
51031947503 rs761591381 0.000 missenseCPro [P]2129
contig referenceTLeu [L]2129
51031951499 rs769381582 0.000 missenseAThr [T]1128
missenseGAla [A]1128
contig referenceCPro [P]1128
51031954496 rs1319315366 N.D. frame shift-Cys [C]1127
contig referenceCLeu [L]1127
51031955495 rs1385898674 N.D. synonymousGPro [P]3126
synonymousTPro [P]3126
contig referenceCPro [P]3126
51031956494 rs1212963639 N.D. missenseAHis [H]2126
contig referenceCPro [P]2126
51031958492 rs1372922685 N.D. synonymousGGln [Q]3125
contig referenceAGln [Q]3125
51031963487 rs772863503 0.000 missenseAIle [I]1124
contig referenceGVal [V]1124
51031964486 rs760053890 0.000byFreq synonymousTSer [S]3123
contig referenceCSer [S]3123
51031970480 rs767905406 0.000 synonymousAThr [T]3121
contig referenceCThr [T]3121
51031975475 rs536314122 0.000byFreqWith1000GenomeData0.0004 missenseAIle [I]1120
contig referenceGVal [V]1120
51031976474 rs371203521 0.000byClusterbyFreq YessynonymousTArg [R]3119
contig referenceCArg [R]3119
51031977473 rs145107386 0.000byCluster YesmissenseAHis [H]2119
contig referenceGArg [R]2119
51031978472 rs1262915715 N.D. missenseGGly [G]1119
missenseTCys [C]1119
contig referenceCArg [R]1119
51031981469 rs147175192 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1118
missenseCLeu [L]1118
contig referenceGVal [V]1118
51031982468 rs778902214 0.000byFreq synonymousAPro [P]3117
synonymousTPro [P]3117
contig referenceCPro [P]3117
51031989461 rs750502525 0.000 missenseAHis [H]2115
missenseTLeu [L]2115
contig referenceGArg [R]2115
51031990460 rs376059650 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTCys [C]1115
contig referenceCArg [R]1115
51031991459 rs1171161144 N.D. synonymousALeu [L]3114
contig referenceGLeu [L]3114
51031995455 rs372314351 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2113
contig referenceGArg [R]2113
51031996454 rs747009734 0.000byFreq missenseTTrp [W]1113
contig referenceCArg [R]1113
51031997453 rs377292050 0.000byCluster YessynonymousALeu [L]3112
contig referenceGLeu [L]3112
51032003447 rs1325591785 N.D. synonymousTArg [R]3110
contig referenceGArg [R]3110
51032004446 rs781065025 0.000 missenseAGln [Q]2110
contig referenceGArg [R]2110
51032005445 rs747746044 0.000byFreq missenseTTrp [W]1110
contig referenceCArg [R]1110
51032006444 rs769576112 0.000 synonymousTLeu [L]3109
contig referenceCLeu [L]3109
51032010440 rs773066405 0.000 missenseGGly [G]2108
contig referenceAAsp [D]2108
51032011439 rs925148577 N.D. missenseAAsn [N]1108
contig referenceGAsp [D]1108
51032012438 rs140418323 0.000byClusterbyFreq YesmissenseAGln [Q]3107
synonymousTHis [H]3107
contig referenceCHis [H]3107
51032014436 rs775828284 0.000 missenseTTyr [Y]1107
contig referenceCHis [H]1107
51032017433 rs368877002 0.000byClusterbyFreq YesmissenseALys [K]1106
missenseCGln [Q]1106
contig referenceGGlu [E]1106
51032018432 rs774623684 N.D. synonymousTHis [H]3105
contig referenceCHis [H]3105
51032023427 rs1172634214 N.D. missenseCArg [R]1104
contig referenceASer [S]1104
51032024426 rs764314353 0.000 synonymousAThr [T]3103
contig referenceGThr [T]3103
51032025425 rs776990216 0.000byFreq missenseGArg [R]2103
missenseTMet [M]2103
contig referenceCThr [T]2103
51032027423 rs16988834 0.017byClusterbyFreqWith1000GenomeData0.0266 YessynonymousASer [S]3102
synonymousCSer [S]3102
contig referenceGSer [S]3102
51032028422 rs201199989 0.000byClusterWith1000GenomeData0.0004 YesmissenseGTrp [W]2102
missenseTLeu [L]2102
contig referenceCSer [S]2102
51032029421 rs1437208608 N.D. missenseCPro [P]1102
contig referenceTSer [S]1102
51032030420 rs1251126963 N.D. synonymousAAla [A]3101
contig referenceCAla [A]3101
51032044406 rs758380638 0.000byFreq missenseASer [S]197
contig referenceGGly [G]197
51032045405 rs766514222 0.000byFreq synonymousTPro [P]396
contig referenceCPro [P]396
51032046404 rs1381561762 N.D. missenseTLeu [L]296
contig referenceCPro [P]296
51032047403 rs751405293 0.000 missenseAThr [T]196
missenseTSer [S]196
contig referenceCPro [P]196
51032051399 rs545215298 0.000With1000GenomeData0.0002 synonymousTThr [T]394
contig referenceCThr [T]394
51032052398 rs1382742731 N.D. missenseAAsn [N]294
contig referenceCThr [T]294
51032060390 rs780784498 0.000byFreq synonymousTPhe [F]391
contig referenceCPhe [F]391
51032064386 rs940515025 N.D. missenseAAsp [D]290
contig referenceGGly [G]290
51032065385 rs563322085 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]190
contig referenceGGly [G]190
51032066384 rs151092558 0.003byClusterbyFreqWith1000GenomeData0.0008 YesmissenseAArg [R]389
synonymousTSer [S]389
contig referenceCSer [S]389
51032069380 rs1440439966 N.D. (9bp) [QIR]287
51032070380 rs748987091 0.000 missenseGArg [R]288
contig referenceAHis [H]288
51032071379 rs1276725850 N.D. missenseTTyr [Y]188
contig referenceCHis [H]188
51032073377 rs372208750 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]287
missenseCPro [P]287
contig referenceGArg [R]287
51032074376 rs61910728 0.005byClusterbyFreqWith1000GenomeData0.0060 YesmissenseGGly [G]187
missenseTTrp [W]187
contig referenceCArg [R]187
51032078372 rs769206930 0.000byFreq missenseTHis [H]385
synonymousAGln [Q]385
contig referenceGGln [Q]385
51032083367 rs777184648 0.000byFreq missenseALys [K]184
contig referenceGGlu [E]184
51032084366 rs528133691 0.000byFreqWith1000GenomeData0.0002 synonymousTThr [T]383
contig referenceCThr [T]383
51032088362 rs962217548 N.D. nonsenseA282
contig referenceGTrp [W]282
51032089361 rs1001308962 N.D. missenseCArg [R]182
contig referenceTTrp [W]182
51032092358 rs546276676 0.000With1000GenomeData0.0002 missenseAAsn [N]181
contig referenceGAsp [D]181
51032093357 rs1025348656 N.D. synonymousTLeu [L]380
contig referenceCLeu [L]380
51032094356 rs1211378394 N.D. missenseCPro [P]280
contig referenceTLeu [L]280
51032098352 rs1457791523 N.D. missenseGGlu [E]179
contig referenceCGln [Q]179
51032099351 rs1177436262 N.D. missenseAArg [R]378
contig referenceCSer [S]378
51032102348 rs765634716 0.000byFreq synonymousGLeu [L]377
contig referenceCLeu [L]377
51032103347 rs773385511 0.000byFreq missenseCPro [P]277
contig referenceTLeu [L]277
51032104346 rs763260557 0.000byFreq missenseTPhe [F]177
contig referenceCLeu [L]177
51032105345 rs1426795612 N.D. missenseAArg [R]376
contig referenceCSer [S]376
51032110340 rs766314845 0.000 missenseAAsn [N]175
missenseGAsp [D]175
missenseTTyr [Y]175
contig referenceCHis [H]175
51032111339 rs1363802736 N.D. missenseTAsp [D]374
contig referenceAGlu [E]374
51032114336 rs1184277309 N.D. synonymousAGly [G]373
contig referenceGGly [G]373
51032115335 rs1484641552 N.D. missenseAGlu [E]273
contig referenceGGly [G]273
51032117333 rs565600470 0.000byFreqWith1000GenomeData0.0002 synonymousALeu [L]372
synonymousTLeu [L]372
contig referenceGLeu [L]372
51032119331 rs1324075750 N.D. synonymousTLeu [L]172
contig referenceCLeu [L]172
51032121329 rs767549990 0.000byFreq missenseAHis [H]271
contig referenceGArg [R]271
51032122328 rs149864728 0.000byClusterbyFreq YesmissenseASer [S]171
missenseTCys [C]171
contig referenceCArg [R]171
51032124326 rs777741385 0.000 missenseCAla [A]270
contig referenceTVal [V]270
51032127323 rs748899084 0.000 missenseTLeu [L]269
contig referenceGTrp [W]269
51032129321 rs375853405 0.000byClusterbyFreq YessynonymousTTyr [Y]368
contig referenceCTyr [Y]368
51032129320 rs757384090 0.000 GTA268
51032132318 rs145698733 0.000byClusterbyFreq YesmissenseTSer [S]367
synonymousAArg [R]367
contig referenceGArg [R]367
51033984310 rs971563374 N.D. missenseASer [S]165
contig referenceGGly [G]165
51033985309 rs774600833 0.000 synonymousTSer [S]364
contig referenceCSer [S]364
51033987307 rs759708663 0.000 missenseGGly [G]164
contig referenceASer [S]164
51033989304 rs1292945025 N.D. frame shift(13bp)Tyr [Y]163
contig reference-Cys [C]163
51033991303 rs1332433049 N.D. missenseGGln [Q]362
contig referenceCHis [H]362
51033996298 rs772227438 0.000byFreq missenseAThr [T]161
contig referenceGAla [A]161
51033997297 rs775724482 0.000byFreq synonymousAAla [A]360
contig referenceGAla [A]360
51033998296 rs183006683 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGlu [E]260
missenseTVal [V]260
contig referenceCAla [A]260
51033999295 rs187676265 0.000byClusterWith1000GenomeData0.0002 YesmissenseTSer [S]160
contig referenceGAla [A]160
51034000294 rs753774495 0.000byFreq synonymousGThr [T]359
contig referenceAThr [T]359
51034001293 rs761641539 0.000 missenseTIle [I]259
contig referenceCThr [T]259
51034007287 rs1471658273 N.D. missenseCAla [A]257
contig referenceTVal [V]257
51034008286 rs764976644 0.000byFreq missenseAIle [I]157
contig referenceGVal [V]157
51034009285 rs140549105 0.000byCluster YesmissenseTCys [C]356
contig referenceGTrp [W]356
51034012282 rs1435116926 N.D. synonymousAArg [R]355
contig referenceGArg [R]355
51034013281 rs1187024224 N.D. missenseALys [K]255
contig referenceGArg [R]255
51034015279 rs758062603 0.000 missenseGGln [Q]354
contig referenceCHis [H]354
51034017277 rs145647997 0.000byClusterbyFreq YesmissenseGAsp [D]154
missenseTTyr [Y]154
contig referenceCHis [H]154
51034018276 rs754540331 0.000 missenseGGlu [E]353
contig referenceCAsp [D]353
51034019275 rs778322493 0.000 missenseTVal [V]253
contig referenceAAsp [D]253
51034023271 rs1381506767 N.D. missenseTPhe [F]152
contig referenceAIle [I]152
51034028266 rs1453725078 N.D. missenseAAsp [D]250
contig referenceTVal [V]250
51034030263 rs767606914 0.000 frame shiftGCys [C]250
contig reference-Val [V]250
51034032262 rs1386983781 N.D. missenseASer [S]149
contig referenceGGly [G]149
51034035259 rs771479878 0.000byFreq missenseAArg [R]148
contig referenceGGly [G]148
51034036258 rs375828206 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTCys [C]347
contig referenceCCys [C]347
51034037257 rs373294517 0.000byClusterbyFreq YesmissenseCSer [S]247
contig referenceGCys [C]247
51034040254 rs370556493 0.000byCluster YesmissenseAHis [H]246
contig referenceGArg [R]246
51034041253 rs772424726 0.000byFreq missenseTCys [C]146
contig referenceCArg [R]146
51034043251 rs1236870570 N.D. missenseCPro [P]245
contig referenceTLeu [L]245
51034045249 rs377006881 0.000byCluster YessynonymousTSer [S]344
contig referenceCSer [S]344
51034048246 rs1488687997 N.D. synonymousTThr [T]343
contig referenceCThr [T]343
51034050244 rs747067935 0.002byFreq missenseCPro [P]143
contig referenceAThr [T]143
51034051243 rs370196145 0.000byCluster YessynonymousTGly [G]342
contig referenceCGly [G]342
51034052242 rs776594463 0.000 missenseAAsp [D]242
missenseCAla [A]242
contig referenceGGly [G]242
51034053241 rs1180551906 N.D. missenseCArg [R]142
missenseTCys [C]142
contig referenceGGly [G]142
51034054240 rs1251396920 N.D. synonymousAGlu [E]341
contig referenceGGlu [E]341
51034057237 rs761682794 0.000 missenseGLeu [L]340
contig referenceTPhe [F]340
51034060234 rs1157637387 N.D. synonymousCLeu [L]339
contig referenceGLeu [L]339
51034063231 rs765026453 0.000byFreq synonymousAGly [G]338
contig referenceGGly [G]338
51034067227 rs200951503 0.004byClusterbyFreq YesmissenseGGly [G]237
contig referenceTVal [V]237
51034068226 rs1006938618 N.D. missenseCLeu [L]137
contig referenceGVal [V]137
51034071223 rs1391796405 N.D. nonsenseT136
contig referenceCGln [Q]136
51034075219 rs375319599 0.000byClusterbyFreq YessynonymousAPro [P]334
contig referenceGPro [P]334
51034076218 rs61742847 0.037byClusterbyFreqWith1000GenomeData0.0284 YesmissenseAGln [Q]234
missenseTLeu [L]234
contig referenceCPro [P]234
51034077217 rs1372066363 N.D. missenseAThr [T]134
contig referenceCPro [P]134
51034085209 rs574807133 0.000With1000GenomeData0.0002 missenseGSer [S]231
contig referenceAAsn [N]231
51034086208 rs1314789735 N.D. missenseGAsp [D]131
contig referenceAAsn [N]131
51034088206 rs754453984 0.000 missenseAHis [H]230
contig referenceGArg [R]230
51034089205 rs766966626 0.000 missenseTCys [C]130
contig referenceCArg [R]130
51034090204 rs1271079533 N.D. synonymousAGly [G]329
contig referenceGGly [G]329
51034091203 rs1204253948 N.D. missenseTVal [V]229
contig referenceGGly [G]229
51034095199 rs1332928606 N.D. missenseASer [S]128
missenseCArg [R]128
contig referenceTCys [C]128
51034098196 rs1200819529 N.D. missenseALys [K]127
contig referenceGGlu [E]127
51034100194 rs1233517575 N.D. missenseAAsn [N]226
contig referenceCThr [T]226
51034102192 rs61742854 0.018byClusterbyFreqWith1000GenomeData0.0154 YessynonymousTGly [G]325
contig referenceCGly [G]325
51034106188 rs757716104 0.000byFreq missenseGSer [S]224
contig referenceAAsn [N]224
51034107187 rs1258900666 N.D. missenseCHis [H]124
missenseTTyr [Y]124
contig referenceAAsn [N]124
51034108186 rs1475845001 N.D. missenseALeu [L]323
contig referenceCPhe [F]323
51034109185 rs1187592245 N.D. missenseGCys [C]223
contig referenceTPhe [F]223
51034111183 rs1187655140 N.D. synonymousAIle [I]322
synonymousCIle [I]322
contig referenceTIle [I]322
51034116178 rs759730337 N.D. missenseGGlu [E]121
contig referenceALys [K]121
51034117177 rs1416224337 N.D. synonymousAPro [P]320
synonymousCPro [P]320
contig referenceGPro [P]320
51034118176 rs199660412 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGArg [R]220
missenseTLeu [L]220
contig referenceCPro [P]220
51034119175 rs1170714932 N.D. missenseTSer [S]120
contig referenceCPro [P]120
51034126168 rs1353356985 N.D. synonymousGAla [A]317
contig referenceAAla [A]317
51034127167 rs944571733 N.D. missenseGGly [G]217
contig referenceCAla [A]217
51034128166 rs751337790 N.D.byCluster frame shift-Gln [Q]117
contig referenceGAla [A]117
51034134160 rs1361119892 N.D. missenseTCys [C]115
contig referenceASer [S]115
51034586153 rs1184884600 N.D. synonymousCLeu [L]312
contig referenceTLeu [L]312
51034591148 rs1447081303 N.D. missenseAIle [I]111
contig referenceGVal [V]111
51034594145 rs1405455070 N.D. missenseCArg [R]110
contig referenceTCys [C]110
51034595144 rs1247344375 N.D. synonymousTLeu [L]39
contig referenceGLeu [L]39
51034596143 rs1205584733 N.D. missenseCPro [P]29
contig referenceTLeu [L]29
51034597142 rs1406901188 N.D. synonymousTLeu [L]19
contig referenceCLeu [L]19
51034600139 rs774145235 0.000byFreq missenseAIle [I]18
contig referenceCLeu [L]18
51034605134 rs759160015 0.000 missenseGCys [C]26
contig referenceTPhe [F]26
51034611128 rs1395457488 N.D. missenseAAsn [N]24
contig referenceGSer [S]24
51034615124 rs1248197281 N.D. missenseTPhe [F]13
contig referenceCLeu [L]13
51034616123 rs552324076 0.000byFreqWith1000GenomeData0.0002 synonymousAGly [G]32
synonymousCGly [G]32
contig referenceGGly [G]32
51034617122 rs143108777 0.001byClusterbyFreq missenseAGlu [E]22
missenseTVal [V]22
contig referenceGGly [G]22
51034621118 rs763696610 0.000 missenseGVal [V]11
contig referenceAMet [M]11
51034621116 rs1188281357 N.D. -