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SNP linked to Gene (geneID:2251) 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_017018996.1minus strandXP_016874485.1reverseNT_009759.17GRCh38.p7<- currently shown
XM_017018995.1minus strandXP_016874484.1reverseNT_009759.17GRCh38.p7View snp on GeneModel
NM_020996.2minus strandNP_066276.2reverseNT_009759.17GRCh38.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_009759.17XM_017018996.1XP_016874485.1reverseminus strand269, 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
4434215671 rs1159704370 N.D. synonymousG3209
contig referenceA3209
4434219667 rs144536126 0.000byClusterbyFreq YesmissenseCThr [T]2208
contig referenceTIle [I]2208
4434221665 rs1370920223 N.D. missenseTSer [S]3207
contig referenceGArg [R]3207
4434224662 rs1040424823 N.D. frame shift-Gly [G]3207
contig referenceCArg [R]3207
4434227659 rs1402701184 N.D. synonymousCLeu [L]3205
contig referenceTLeu [L]3205
4434234652 rs936944465 N.D. missenseTLeu [L]2203
contig referenceAHis [H]2203
4434235651 rs746093109 0.000 missenseTTyr [Y]1203
contig referenceCHis [H]1203
4434237649 rs771816989 0.000 missenseGSer [S]2202
contig referenceCThr [T]2202
4434241645 rs775289727 0.000 missenseAIle [I]1201
contig referenceGVal [V]1201
4434243643 rs368545163 0.000byClusterbyFreq YesmissenseTIle [I]2200
contig referenceCThr [T]2200
4434245641 rs768516368 0.000 missenseAIle [I]3199
contig referenceGMet [M]3199
4434249637 rs1228309395 N.D. missenseAAsn [N]2198
contig referenceTIle [I]2198
4434251635 rs776204115 0.000byFreq synonymousAPro [P]3197
contig referenceGPro [P]3197
4434252634 rs567606742 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseAGln [Q]2197
missenseTLeu [L]2197
contig referenceCPro [P]2197
4434255631 rs772957912 0.000 missenseTPhe [F]2196
contig referenceCSer [S]2196
4434257629 rs186761090 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAVal [V]3195
synonymousCVal [V]3195
contig referenceGVal [V]3195
4434258628 rs147421559 0.000byClusterbyFreqWith1000GenomeData YesmissenseCAla [A]2195
contig referenceTVal [V]2195
4434258624 rs1311428042 N.D. frame shift-Val [V]1194
contig referenceAAGGTLys [K]1194
4434259627 rs1214676658 N.D. missenseTLeu [L]1195
contig referenceGVal [V]1195
4434263623 rs756639377 0.000 missenseGArg [R]3193
contig referenceCSer [S]3193
4434267619 rs754902494 0.000byCluster missenseTVal [V]2192
contig referenceGGly [G]2192
4434268618 rs868450985 N.D. missenseASer [S]1192
contig referenceGGly [G]1192
4434270616 rs372807700 0.000byCluster YesmissenseAGln [Q]2191
contig referenceGArg [R]2191
4434271615 rs17183778 0.000byClusterbyFreq YesmissenseTTrp [W]1191
contig referenceCArg [R]1191
4434276610 rs757215677 0.000 missenseCAla [A]2189
contig referenceTVal [V]2189
4434277609 rs1324420921 N.D. missenseTLeu [L]1189
contig referenceGVal [V]1189
4434278608 rs778997996 0.000 synonymousCArg [R]3188
contig referenceGArg [R]3188
4434279607 rs71583765 0.005byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAGln [Q]2188
missenseTLeu [L]2188
contig referenceGArg [R]2188
4434280606 rs142642694 0.000byClusterbyFreq YesmissenseTTrp [W]1188
contig referenceCArg [R]1188
4434283603 rs746850556 0.000 missenseAArg [R]1187
contig referenceGGly [G]1187
4434284602 rs768628490 0.000byFreq synonymousTTyr [Y]3186
contig referenceCTyr [Y]3186
4434291595 rs769365269 0.000 frame shift-Thr [T]2184
contig referenceGSer [S]2184
4434296590 rs199706354 0.000byClusterWith1000GenomeData0.0002 YessynonymousGAla [A]3182
contig referenceCAla [A]3182
4434298588 rs748123118 0.000 missenseTSer [S]1182
contig referenceGAla [A]1182
4434301585 rs1337930478 N.D. missenseGVal [V]1181
contig referenceAIle [I]1181
4434304582 rs538985259 0.000byCluster missenseCHis [H]1180
contig referenceTTyr [Y]1180
4434305581 rs772894302 0.000byFreq synonymousTThr [T]3179
contig referenceCThr [T]3179
4434307578 rs1297305496 N.D. frame shiftGAsp [D]3179
contig reference-Thr [T]3179
4434308578 rs368312517 0.000byCluster YessynonymousAGly [G]3178
contig referenceGGly [G]3178
4434313573 rs1407699984 N.D. frame shift-Lys [K]1177
contig referenceCGln [Q]1177
4434317569 rs1212573489 N.D. synonymousALeu [L]3175
contig referenceGLeu [L]3175
4434320566 rs1013679511 N.D. missenseAGlu [E]3174
synonymousTAsp [D]3174
contig referenceCAsp [D]3174
4434321565 rs7961645 0.031byClusterbyFreqWith1000GenomeData0.0531 YesmissenseTVal [V]2174
missenseTVal [V]2174
missenseTVal [V]2174
contig referenceAAsp [D]2174
contig referenceAAsp [D]2174
contig referenceAAsp [D]2174
4434323563 rs1482428485 N.D. synonymousCSer [S]3173
contig referenceASer [S]3173
4434326560 rs775984036 0.000byFreq synonymousAGlu [E]3172
contig referenceGGlu [E]3172
4434327559 rs760889331 0.000byFreq missenseGGly [G]2172
contig referenceAGlu [E]2172
4434328558 rs372503617 0.000byClusterbyFreq YesnonsenseT1172
missenseALys [K]1172
contig referenceGGlu [E]1172
4434329557 rs542608820 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3171
contig referenceCTyr [Y]3171
4434332554 rs562570503 0.000With1000GenomeData0.0002 synonymousTAla [A]3170
contig referenceCAla [A]3170
4434333553 rs1027205381 N.D. missenseTVal [V]2170
contig referenceCAla [A]2170
4434335551 rs376776555 0.000byClusterbyFreq YessynonymousCAsn [N]3169
contig referenceTAsn [N]3169
4434338548 rs1201787374 N.D. synonymousTTyr [Y]3168
contig referenceCTyr [Y]3168
4434341545 rs1379688841 N.D. missenseALys [K]3167
contig referenceTAsn [N]3167
4434344542 rs758615687 0.000byFreq synonymousTAsn [N]3166
contig referenceCAsn [N]3166
4434348538 rs780317311 0.000 missenseTLeu [L]2165
contig referenceCPro [P]2165
4434350536 rs747272917 0.000 synonymousTLeu [L]3164
contig referenceGLeu [L]3164
4434357529 rs140796118 0.000byClusterbyFreq YesmissenseTIle [I]2162
contig referenceCThr [T]2162
4434363523 rs781060929 0.000 missenseCThr [T]2160
contig referenceGArg [R]2160
4434372514 rs530698141 0.000With1000GenomeData0.0002 missenseTPhe [F]2157
contig referenceGCys [C]2157
4434373513 rs748009704 0.000 missenseCArg [R]1157
contig referenceTCys [C]1157
4434378508 rs1332009777 N.D. missenseCAla [A]2155
contig referenceAGlu [E]2155
4434383503 rs149687656 0.000byCluster YessynonymousTPhe [F]3153
contig referenceCPhe [F]3153
4434389497 rs772840848 0.000 synonymousTPro [P]3151
contig referenceCPro [P]3151
4444133494 rs146672099 0.000byClusterbyFreq YessynonymousAThr [T]3150
synonymousCThr [T]3150
contig referenceGThr [T]3150
4444134493 rs140216440 0.000byClusterbyFreq YesmissenseTMet [M]2150
contig referenceCThr [T]2150
4444138489 rs145168026 0.000byClusterbyFreq YesmissenseAThr [T]1149
contig referenceGAla [A]1149
4444139488 rs138991329 0.000byClusterbyFreq YesnonsenseG3148
synonymousTTyr [Y]3148
contig referenceCTyr [Y]3148
4444140487 rs1406814273 N.D. missenseGCys [C]2148
contig referenceATyr [Y]2148
4444144483 rs776856016 0.000 missenseGVal [V]1147
contig referenceTLeu [L]1147
4444148479 rs762223929 0.000 synonymousCGly [G]3145
synonymousGGly [G]3145
contig referenceAGly [G]3145
4444150477 rs1357543116 N.D. missenseAArg [R]1145
contig referenceGGly [G]1145
4444155472 rs569853562 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]2143
contig referenceGSer [S]2143
4444156471 rs1422079813 N.D. missenseGGly [G]1143
contig referenceASer [S]1143
4444157470 rs778696187 0.000byFreq synonymousTAsn [N]3142
contig referenceCAsn [N]3142
4444158469 rs149005865 0.000byCluster YesmissenseTIle [I]2142
contig referenceAAsn [N]2142
4444159468 rs1463359942 N.D. missenseGAsp [D]1142
contig referenceAAsn [N]1142
4444162465 rs1157479065 N.D. missenseGVal [V]1141
contig referenceAMet [M]1141
4444163464 rs766323285 0.000 synonymousTAla [A]3140
contig referenceCAla [A]3140
4444164463 rs1477139038 N.D. missenseTVal [V]2140
contig referenceCAla [A]2140
4444165462 rs963085944 N.D. missenseAThr [T]1140
contig referenceGAla [A]1140
4444166461 rs2241280 0.489byClusterbyFreqbySubmitterwith2hitWith1000GenomeData0.4722 YessynonymousCVal [V]3139
contig referenceTVal [V]3139
4444168459 rs759669908 0.000byFreq missenseAIle [I]1139
contig referenceGVal [V]1139
4444169458 rs767833262 0.000 synonymousTPhe [F]3138
contig referenceCPhe [F]3138
4444176451 rs1237427957 N.D. missenseGGly [G]2136
contig referenceCAla [A]2136
4444179448 rs974386309 N.D. missenseCThr [T]2135
contig referenceGSer [S]2135
4444185442 rs752875740 0.000byFreq missenseGGly [G]2133
contig referenceTVal [V]2133
4444187440 rs755904189 0.000byFreq synonymousGGly [G]3132
contig referenceAGly [G]3132
4444188439 rs1226488676 N.D. missenseAGlu [E]2132
contig referenceGGly [G]2132
4444191436 rs1318845637 N.D. missenseCSer [S]2131
contig referenceTPhe [F]2131
4444193434 rs777739740 0.000 synonymousTLeu [L]3130
contig referenceCLeu [L]3130
4444195432 rs148135963 0.000byClusterbyFreq YesmissenseGVal [V]1130
contig referenceCLeu [L]1130
4444196431 rs757314409 0.000 synonymousCSer [S]3129
contig referenceTSer [S]3129
4444204423 rs375876276 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAMet [M]1127
contig referenceGVal [V]1127
4444205422 rs141906537 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTGly [G]3126
contig referenceCGly [G]3126
4444209418 rs532205756 0.000byCluster missenseAGln [Q]2125
contig referenceGArg [R]2125
4444210417 rs779702937 0.000byFreq nonsenseT1125
contig referenceCArg [R]1125
4444213414 rs1476511683 N.D. missenseCGln [Q]1124
contig referenceGGlu [E]1124
4444215412 rs1180612567 N.D. missenseCAla [A]2123
contig referenceTVal [V]2123
4444216411 rs746672335 0.000byFreq missenseAMet [M]1123
contig referenceGVal [V]1123
4444217410 rs2241279 0.489byClusterbyFreqbySubmitterwith2hitWith1000GenomeData0.4796 YessynonymousCThr [T]3122
contig referenceTThr [T]3122
4444218409 rs377044251 0.000byCluster YesmissenseTIle [I]2122
contig referenceCThr [T]2122
4444220407 rs1357010222 N.D. synonymousTSer [S]3121
contig referenceCSer [S]3121
4444225402 rs139049599 0.000byClusterbyFreq YesmissenseGVal [V]1120
contig referenceAIle [I]1120
4444232395 rs1302986940 N.D. synonymousTLeu [L]3117
contig referenceGLeu [L]3117
4444233394 rs1167949833 N.D. missenseCPro [P]2117
contig referenceTLeu [L]2117
4444235392 rs771531962 0.000byClusterbyFreq missenseAArg [R]3116
synonymousTSer [S]3116
contig referenceCSer [S]3116
4445225390 rs749706231 0.000byFreq missenseGGly [G]1116
contig referenceASer [S]1116
4445229386 rs1308667388 N.D. synonymousGPro [P]3114
contig referenceCPro [P]3114
4445232383 rs771210347 0.000 missenseALys [K]3113
synonymousTAsn [N]3113
contig referenceCAsn [N]3113
4445233382 rs1245390500 N.D. missenseGSer [S]2113
contig referenceAAsn [N]2113
4445234381 rs1193286982 N.D. missenseTTyr [Y]1113
contig referenceAAsn [N]1113
4445237378 rs774854335 0.000 missenseALys [K]1112
contig referenceGGlu [E]1112
4445238377 rs1193910019 N.D. synonymousAGlu [E]3111
contig referenceGGlu [E]3111
4445240375 rs746392824 0.000byFreq missenseALys [K]1111
contig referenceGGlu [E]1111
4445241374 rs1447145095 N.D. synonymousTHis [H]3110
contig referenceCHis [H]3110
4445247368 rs11611403 0.307byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.1552 YessynonymousAGly [G]3108
synonymousCGly [G]3108
contig referenceGGly [G]3108
4445249366 rs1419606614 N.D. missenseAArg [R]1108
contig referenceGGly [G]1108
4445250365 rs775761160 0.000byFreq synonymousTSer [S]3107
contig referenceCSer [S]3107
4445251364 rs1236384347 N.D. missenseAAsn [N]2107
contig referenceGSer [S]2107
4445252363 rs1162574593 N.D. missenseGGly [G]1107
contig referenceASer [S]1107
4445256359 rs760950863 0.000 synonymousAArg [R]3105
synonymousTArg [R]3105
contig referenceGArg [R]3105
4445257358 rs199938701 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAGln [Q]2105
contig referenceGArg [R]2105
4445258357 rs369471848 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTTrp [W]1105
synonymousAArg [R]1105
contig referenceCArg [R]1105
4445260355 rs761612677 0.000 missenseAAsp [D]2104
contig referenceGGly [G]2104
4445261354 rs568105919 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]1104
contig referenceGGly [G]1104
4445262353 rs750338754 0.000byFreq synonymousTAsp [D]3103
contig referenceCAsp [D]3103
4445264351 rs758292506 0.000byFreq missenseAAsn [N]1103
contig referenceGAsp [D]1103
4445265350 rs765855786 0.000byFreq synonymousGPro [P]3102
synonymousTPro [P]3102
contig referenceCPro [P]3102
4445267348 rs754609591 0.000 missenseTSer [S]1102
contig referenceCPro [P]1102
4445268347 rs780761036 0.000byFreq synonymousGLeu [L]3101
contig referenceCLeu [L]3101
4445270345 rs1321500673 N.D. missenseTPhe [F]1101
contig referenceCLeu [L]1101
4445273342 rs1214643843 N.D. missenseTLeu [L]1100
contig referenceGVal [V]1100
4445273341 rs1441632765 N.D. frame shift-His [H]399
contig referenceGGGln [Q]399
4445277338 rs376796208 0.000byCluster YessynonymousTLeu [L]398
contig referenceCLeu [L]398
4445279336 rs757600194 0.000 missenseTPhe [F]198
contig referenceCLeu [L]198
4445280335 rs1187509229 N.D. missenseAGln [Q]397
contig referenceCHis [H]397
4445282333 rs1242246869 N.D. missenseTTyr [Y]197
contig referenceCHis [H]197
4445286329 rs930066079 N.D. synonymousTGly [G]395
contig referenceCGly [G]395
4445288327 rs1476081901 N.D. missenseASer [S]195
missenseCArg [R]195
contig referenceGGly [G]195
4445289326 rs201860096 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGMet [M]394
synonymousTIle [I]394
contig referenceCIle [I]394
4445290325 rs1412898446 N.D. missenseCThr [T]294
contig referenceTIle [I]294
4445293322 rs147431575 0.000byClusterbyFreq YesmissenseAAsp [D]293
contig referenceGGly [G]293
4445297318 rs780277371 0.000 missenseAMet [M]192
missenseTLeu [L]192
contig referenceGVal [V]192
4445298317 rs747145442 0.000 synonymousTAsn [N]391
contig referenceCAsn [N]391
4445301314 rs768870607 0.000 synonymousTCys [C]390
contig referenceCCys [C]390
4445305310 rs1047038278 N.D. missenseGCys [C]289
contig referenceATyr [Y]289
4445306309 rs776927964 0.000byFreq missenseCHis [H]189
contig referenceTTyr [Y]189
4445307308 rs903732308 N.D. synonymousGLeu [L]388
contig referenceCLeu [L]388
4445310305 rs1212992325 N.D. synonymousAArg [R]387
contig referenceGArg [R]387
4445314301 rs373272192 0.000byClusterbyFreq YesmissenseAGln [Q]286
contig referenceGArg [R]286
4445315300 rs780465055 0.000byCluster missenseTTrp [W]186
contig referenceCArg [R]186
4445316299 rs551025010 0.000byClusterbyFreq synonymousAGln [Q]385
contig referenceGGln [Q]385
4445320295 rs762919183 0.000byFreq missenseAGln [Q]284
contig referenceGArg [R]284
4445321294 rs373061794 0.000byClusterbyFreq YesmissenseTTrp [W]184
synonymousAArg [R]184
contig referenceCArg [R]184
4445322293 rs773667611 N.D. synonymousALys [K]383
contig referenceGLys [K]383
4445323292 rs751508514 0.000 missenseTMet [M]283
contig referenceALys [K]283
4445324291 rs912537551 N.D. missenseCGln [Q]183
contig referenceALys [K]183
4445334281 rs1304344051 N.D. synonymousALeu [L]379
contig referenceGLeu [L]379
4445338277 rs1222837591 N.D. missenseGCys [C]278
contig referenceATyr [Y]278
4445339276 rs201208817 0.000byClusterWith1000GenomeData0.0002 missenseGAsp [D]178
contig referenceTTyr [Y]178
4445341274 rs758975759 0.000 missenseAAsp [D]277
contig referenceGGly [G]277
4445345270 rs767044753 0.000 missenseGGly [G]176
contig referenceASer [S]176
4445347268 rs1284475092 N.D. missenseCAla [A]275
contig referenceAGlu [E]275
4445348267 rs1448230216 N.D. missenseALys [K]175
contig referenceGGlu [E]175
4445349266 rs867341297 N.D.byCluster missenseTCys [C]374
contig referenceGTrp [W]374
4445351264 rs1477958095 N.D. frame shift-Gly [G]174
contig referenceTTrp [W]174
4445354261 rs960925964 N.D. missenseGAsp [D]173
contig referenceAAsn [N]173
4445355260 rs752344976 0.000byFreq synonymousAVal [V]372
contig referenceGVal [V]372
4445357258 rs766305356 0.000 frame shift-172
contig referenceGVal [V]172
4445358257 rs147013871 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousAGly [G]371
synonymousCGly [G]371
contig referenceGGly [G]371
4445359256 rs750821885 0.000 missenseCAla [A]271
contig referenceGGly [G]271
4445360255 rs758962655 0.000byFreq missenseAArg [R]171
contig referenceGGly [G]171
4445361254 rs780649360 0.000 synonymousTAla [A]370
contig referenceCAla [A]370
4445362253 rs1158215717 N.D. missenseAAsp [D]270
missenseTVal [V]270
contig referenceCAla [A]270
4445365250 rs1408911035 N.D. missenseCThr [T]269
contig referenceTIle [I]269
4445366248 rs1347301980 N.D. frame shift-Asp [D]368
contig referenceGAGlu [E]368
4445369246 rs1402652408 N.D. missenseCGln [Q]168
contig referenceGGlu [E]168
4445373242 rs747523579 0.000 synonymousCAla [A]366
synonymousGAla [A]366
contig referenceTAla [A]366
4445378237 rs1374895687 N.D. synonymousTLeu [L]165
contig referenceCLeu [L]165
4445379236 rs1415991807 N.D. synonymousAGly [G]364
contig referenceGGly [G]364
4445381234 rs1040263555 N.D. missenseAArg [R]164
contig referenceGGly [G]164
4445382233 rs7358740 0.054byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.0968 synonymousAAla [A]363
synonymousGAla [A]363
synonymousTAla [A]363
contig referenceCAla [A]363
4445382233 rs1315301284 N.D. frame shift-365
contig referenceCLeu [L]365
4445383232 rs17183529 0.003byClusterbyFreqWith1000GenomeData0.0042 missenseTVal [V]263
contig referenceCAla [A]263
4445384231 rs148657794 0.005byClusterbyFreqWith1000GenomeData0.0010 missenseAThr [T]163
missenseTSer [S]163
contig referenceGAla [A]163
4445385230 rs202212518 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTArg [R]362
contig referenceCArg [R]362
4445386229 rs892861468 N.D. missenseAHis [H]262
contig referenceGArg [R]262
4445387228 rs562208785 0.000With1000GenomeData0.0006 missenseGGly [G]162
contig referenceCArg [R]162
4445389226 rs774228889 0.000 missenseGCys [C]261
contig referenceCSer [S]261
4445391224 rs1212972061 N.D. synonymousAArg [R]360
contig referenceGArg [R]360
4445395195 rs1249440913 N.D. frame shift-Gln [Q]151
contig reference(26bp)Ser [S]151
4445396219 rs759490846 0.000 missenseCPro [P]159
contig referenceTSer [S]159
4445397218 rs766991648 0.000 synonymousTLeu [L]358
contig referenceGLeu [L]358
4445398217 rs752187013 0.000 missenseCPro [P]258
contig referenceTLeu [L]258
4445399216 rs952218723 N.D. synonymousTLeu [L]158
contig referenceCLeu [L]158
4445400215 rs760370083 0.000 synonymousTLeu [L]357
contig referenceGLeu [L]357
4445402213 rs375947087 0.000byCluster missenseGVal [V]157
contig referenceCLeu [L]157
4445404211 rs575676359 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]256
missenseTIle [I]256
contig referenceCThr [T]256
4445405210 rs1321896007 N.D. missenseGAla [A]156
contig referenceAThr [T]156
4445407208 rs1394582963 N.D. missenseAAsp [D]255
contig referenceGGly [G]255
4445409206 rs370482414 0.000byCluster nonsenseA354
contig referenceGTrp [W]354
4445413202 rs984090852 N.D. missenseTVal [V]253
contig referenceGGly [G]253
4445414201 rs1176086971 N.D. missenseASer [S]153
contig referenceGGly [G]153
4445415200 rs142122437 0.000byClusterbyFreqWith1000GenomeData0.0008 synonymousAArg [R]352
contig referenceGArg [R]352
4445418197 rs780597940 0.000 synonymousASer [S]351
contig referenceGSer [S]351
4445419196 rs752067820 0.000 missenseTLeu [L]251
contig referenceCSer [S]251
4445421194 rs1337877742 N.D. missenseGGlu [E]350
contig referenceCAsp [D]350
4445424191 rs755596164 0.000byFreq synonymousALeu [L]349
contig referenceGLeu [L]349
4445429186 rs11063156 0.014byClusterbyFreq missenseAMet [M]148
contig referenceCLeu [L]148
4445430185 rs921604607 N.D. synonymousAThr [T]347
contig referenceGThr [T]347
4445431184 rs1347976478 N.D. missenseTMet [M]247
contig referenceCThr [T]247
4445439176 rs781303718 0.000 synonymousTAla [A]344
contig referenceCAla [A]344
4445443172 rs373568166 0.000byClusterbyFreq missenseAHis [H]243
contig referenceGArg [R]243
4445444171 rs1430310170 N.D. missenseGGly [G]143
contig referenceCArg [R]143
4445448167 rs1338742088 N.D. synonymousTGly [G]341
contig referenceCGly [G]341
4445449166 rs756228531 0.000byFreq missenseAAsp [D]241
contig referenceGGly [G]241
4445450165 rs777789412 0.000 missenseCArg [R]141
contig referenceGGly [G]141
4445452163 rs749551405 0.000 missenseTVal [V]240
contig referenceCAla [A]240
4445453162 rs770662346 0.000byFreq missenseTSer [S]140
contig referenceGAla [A]140
4445457158 rs138178452 0.000byClusterWith1000GenomeData0.0002 synonymousASer [S]338
synonymousCSer [S]338
contig referenceGSer [S]338
4445458157 rs200279711 0.000byClusterbyFreq nonsenseA238
missenseTLeu [L]238
contig referenceCSer [S]238
4445462153 rs775052841 0.000byFreq missenseTSer [S]137
contig referenceCPro [P]137
4445463152 rs377040252 0.000byCluster synonymousAVal [V]336
synonymousTVal [V]336
contig referenceGVal [V]336
4445464151 rs11613495 0.240byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.0933 missenseCAla [A]236
contig referenceTVal [V]236
4445465150 rs200335803 0.000byClusterWith1000GenomeData0.0002 missenseAMet [M]136
contig referenceGVal [V]136
4445472143 rs761583325 0.000 synonymousTGly [G]333
contig referenceCGly [G]333
4445473142 rs1399115761 N.D. missenseTVal [V]233
contig referenceGGly [G]233
4445474141 rs1403885085 N.D. missenseASer [S]133
contig referenceGGly [G]133
4445476139 rs1488604695 N.D. missenseCAla [A]232
contig referenceTVal [V]232
4445477138 rs766832668 0.000byFreq missenseAMet [M]132
missenseCLeu [L]132
contig referenceGVal [V]132
4445478137 rs1211420055 N.D. synonymousGLeu [L]331
contig referenceALeu [L]331
4445479136 rs368976437 N.D. missenseCPro [P]231
contig referenceTLeu [L]231
4445485130 rs139098855 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseTVal [V]229
contig referenceGGly [G]229
4445487128 rs951604071 N.D. synonymousGLeu [L]328
contig referenceALeu [L]328
4445495120 rs767850309 0.000byFreq missenseAIle [I]126
contig referenceGVal [V]126
4445496119 rs17183515 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTLeu [L]325
contig referenceCLeu [L]325
4445498117 rs756102466 0.000 missenseGVal [V]125
missenseTPhe [F]125
contig referenceCLeu [L]125
4445500115 rs1228094811 N.D. missenseAAsp [D]224
contig referenceCAla [A]224
4445501114 rs1214285156 N.D. missenseTSer [S]124
contig referenceGAla [A]124
4445502113 rs777927880 0.000 nonsenseA323
contig referenceGTrp [W]323
4445506109 rs749489333 0.000 missenseCPro [P]222
contig referenceTLeu [L]222
4445508107 rs1212780564 N.D. synonymousAThr [T]321
contig referenceGThr [T]321
4445509106 rs1273570877 N.D. missenseGArg [R]221
missenseTMet [M]221
contig referenceCThr [T]221
4445511104 rs1469129420 N.D. synonymousAGly [G]320
contig referenceCGly [G]320
4445512103 rs1195704124 N.D. missenseCAla [A]220
contig referenceGGly [G]220
4445514101 rs757510191 0.000 synonymousAGln [Q]319
contig referenceGGln [Q]319
444551699 rs1427949837 N.D. nonsenseT119
contig referenceCGln [Q]119
444552194 rs1194520233 N.D. missenseAHis [H]217
contig referenceGArg [R]217
444552293 rs778673100 0.000byFreq missenseASer [S]117
missenseTCys [C]117
contig referenceCArg [R]117
444553283 rs745720163 0.000 synonymousAArg [R]313
contig referenceGArg [R]313
444553481 rs771915903 0.000byFreq missenseTTrp [W]113
contig referenceCArg [R]113
444553679 rs775224777 0.000 missenseATyr [Y]212
contig referenceCSer [S]212
444553976 rs1462734961 N.D. missenseCThr [T]211
contig referenceTMet [M]211
444554471 rs548134803 0.000With1000GenomeData0.0002 missenseGMet [M]39
contig referenceCIle [I]39
444554570 rs768003495 0.000 missenseCThr [T]29
contig referenceTIle [I]29
444554768 rs371001930 0.000byCluster synonymousTPhe [F]38
contig referenceCPhe [F]38
444555065 rs1297655958 N.D. synonymousCLeu [L]37
contig referenceGLeu [L]37
444555164 rs113373093 0.500byClusterbyFreq missenseAGln [Q]27
missenseCPro [P]27
contig referenceTLeu [L]27
444555263 rs1232603436 N.D. missenseAMet [M]17
contig referenceCLeu [L]17
444555362 rs1293726871 N.D. synonymousGLys [K]36
contig referenceALys [K]36
444555560 rs761528202 0.000 missenseGGlu [E]16
contig referenceALys [K]16
444556253 rs1215818306 N.D. synonymousALeu [L]33
contig referenceGLeu [L]33
444556451 rs751406730 0.000 frame shift-Trp [W]13
contig referenceCLeu [L]13
444556451 rs765053412 0.000byFreq synonymousTLeu [L]13
contig referenceCLeu [L]13
444556648 rs759226219 0.000 frame shiftGGly [G]12
contig reference-Ala [A]12
444556649 rs921822059 N.D. missenseTVal [V]22
contig referenceCAla [A]22
444556847 rs1263936373 N.D. missenseAIle [I]31
contig referenceGMet [M]31
444556946 rs774847079 0.000 missenseCThr [T]21
contig referenceTMet [M]21
444557045 rs375467953 0.000byClusterbyFreq missenseCLeu [L]11
missenseTLeu [L]11
contig referenceAMet [M]11