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dbSNP

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SNP linked to Gene (geneID:240) 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): 11
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000698.4plus strandNP_000689.1forwardNT_030059.14GRCh38.p7<- currently shown
NM_000698.4plus strandNP_000689.1forwardNW_003315935.1GRCh38.p7View snp on GeneModel
XM_017016012.1plus strandXP_016871501.1forwardNT_030059.14GRCh38.p7View snp on GeneModel
NM_001320862.1plus strandNP_001307791.1forwardNW_003315935.1GRCh38.p7View snp on GeneModel
NM_001320862.1plus strandNP_001307791.1forwardNT_030059.14GRCh38.p7View snp on GeneModel
NM_001320861.1plus strandNP_001307790.1forwardNW_003315935.1GRCh38.p7View snp on GeneModel
NM_001320861.1plus strandNP_001307790.1forwardNT_030059.14GRCh38.p7View snp on GeneModel
NM_001256154.2plus strandNP_001243083.1forwardNW_003315935.1GRCh38.p7View snp on GeneModel
NM_001256154.2plus strandNP_001243083.1forwardNT_030059.14GRCh38.p7View snp on GeneModel
NM_001256153.2plus strandNP_001243082.1forwardNW_003315935.1GRCh38.p7View snp on GeneModel
NM_001256153.2plus strandNP_001243082.1forwardNT_030059.14GRCh38.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_030059.14NM_000698.4NP_000689.1forwardplus strand478, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
45374280115 rs778234345 0.000 missenseGVal [V]11
contig referenceAMet [M]11
45374282117 rs750402256 0.000byFreq missenseAIle [I]31
contig referenceGMet [M]31
45374283118 rs758304579 0.000 missenseTSer [S]12
contig referenceCPro [P]12
45374285120 rs962769729 N.D. synonymousTPro [P]32
contig referenceCPro [P]32
45374288123 rs779940803 0.000 synonymousGSer [S]33
contig referenceCSer [S]33
45374296131 rs746868547 0.000byFreq missenseAAsp [D]26
contig referenceTVal [V]26
45374300135 rs4987105 0.318byClusterbyFreqWith1000GenomeData0.1709 YessynonymousTThr [T]37
contig referenceCThr [T]37
45374303138 rs781400367 0.000 synonymousCVal [V]38
contig referenceGVal [V]38
45374305140 rs748263035 0.000 missenseTVal [V]29
contig referenceCAla [A]29
45374312147 rs372587191 0.000byCluster YessynonymousTGly [G]311
contig referenceCGly [G]311
45374318153 rs773127996 0.000byFreq synonymousAGln [Q]313
contig referenceGGln [Q]313
45374326161 rs916062449 N.D. missenseTVal [V]216
contig referenceCAla [A]216
45374327162 rs763058133 0.000byFreq synonymousGAla [A]316
synonymousTAla [A]316
contig referenceCAla [A]316
45374336171 rs920933816 N.D. missenseAGlu [E]319
contig referenceCAsp [D]319
45374343178 rs375546109 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGVal [V]122
contig referenceAIle [I]122
45374348183 rs369459232 0.000byCluster YessynonymousTTyr [Y]323
contig referenceCTyr [Y]323
45374355190 rs759982313 0.000 missenseTPhe [F]126
contig referenceCLeu [L]126
45374358193 rs767933146 0.000 missenseCLeu [L]127
contig referenceGVal [V]127
45374359194 rs761329272 0.000 missenseAGlu [E]227
contig referenceTVal [V]227
45374365200 rs764909270 0.000 missenseTLeu [L]229
contig referenceCSer [S]229
45374366201 rs372751591 0.000byClusterWith1000GenomeData0.0002 YessynonymousCSer [S]329
contig referenceGSer [S]329
45374368203 rs866344948 N.D.byCluster missenseTVal [V]230
contig referenceCAla [A]230
45374371206 rs76739827 0.000byCluster YesmissenseAAsp [D]231
contig referenceGGly [G]231
45374373208 rs780037046 0.000 missenseCArg [R]132
contig referenceTCys [C]132
45374374209 rs751434965 0.000 missenseATyr [Y]232
contig referenceGCys [C]232
45374377212 rs532658793 0.001byFreqWith1000GenomeData0.0004 missenseCThr [T]233
contig referenceGSer [S]233
45374400235 rs867381730 N.D. missenseTSer [S]141
contig referenceCPro [P]141
45374405240 rs12762604 N.D.byCluster YesmissenseALeu [L]342
contig referenceCPhe [F]342
45374411246 rs780918560 0.000byFreq synonymousTAsn [N]344
contig referenceCAsn [N]344
45374416251 rs754141689 0.000 frame shift(20bp)Ser [S]252
contig reference-Asp [D]252
45374426261 rs748435739 0.000byFreq synonymousAGly [G]349
contig referenceCGly [G]349
45374428263 rs769950910 0.000byCluster missenseTVal [V]250
contig referenceCAla [A]250
45382488270 rs752676066 0.000 missenseGGlu [E]352
contig referenceTAsp [D]352
45382494276 rs764154625 0.000byFreq synonymousTTyr [Y]354
contig referenceCTyr [Y]354
45382495277 rs763898279 0.000byCluster missenseAAsn [N]155
contig referenceGAsp [D]155
45382497279 rs754035883 0.000byFreq synonymousTAsp [D]355
contig referenceCAsp [D]355
45382498280 rs139425864 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAMet [M]156
contig referenceGVal [V]156
45382504286 rs964176586 N.D. missenseTLeu [L]158
contig referenceGVal [V]158
45382508290 rs201645075 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]259
contig referenceAAsp [D]259
45382509291 rs745999569 0.000 synonymousTAsp [D]359
contig referenceCAsp [D]359
45382510292 rs369176350 0.000byClusterbyFreq YesmissenseALys [K]160
contig referenceGGlu [E]160
45382519301 rs780433165 0.000byFreq missenseTCys [C]163
contig referenceGGly [G]163
45382521303 rs747497283 0.000byFreq synonymousTGly [G]363
contig referenceCGly [G]363
45382522304 rs143978950 0.000byClusterbyFreq YesmissenseALys [K]164
contig referenceGGlu [E]164
45382525307 rs895250951 N.D. missenseGVal [V]165
contig referenceAIle [I]165
45382530312 rs777018271 0.000byFreq synonymousAGln [Q]366
contig referenceGGln [Q]366
45382542324 rs547612422 0.000With1000GenomeData0.0002 synonymousTIle [I]370
contig referenceCIle [I]370
45382546328 rs751386534 N.D. missenseGGlu [E]172
contig referenceALys [K]172
45382550332 rs770621268 0.000 missenseAHis [H]273
contig referenceGArg [R]273
45382554336 rs773980046 0.000 synonymousALys [K]374
contig referenceGLys [K]374
45382565347 rs373197650 0.000byClusterbyFreq YesmissenseGSer [S]278
contig referenceAAsn [N]278
45382566348 rs771552267 0.000 missenseALys [K]378
contig referenceTAsn [N]378
45382568350 rs775311393 0.000byFreq missenseCAla [A]279
contig referenceAAsp [D]279
45382569351 rs182401295 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTAsp [D]379
contig referenceCAsp [D]379
45382570352 rs867140835 N.D.byCluster missenseAAsn [N]180
contig referenceGAsp [D]180
45382571353 rs763905273 0.000byFreq missenseGGly [G]280
contig referenceAAsp [D]280
45382579361 rs753732185 0.000 synonymousTLeu [L]183
contig referenceCLeu [L]183
45382583365 rs908536964 N.D. missenseGArg [R]284
contig referenceALys [K]284
45382584366 rs539520091 0.001byFreqWith1000GenomeData0.0004 synonymousALys [K]384
contig referenceGLys [K]384
45382588370 rs765617226 0.000byFreq missenseGVal [V]186
contig referenceAIle [I]186
45382592374 rs750603646 0.000 missenseALys [K]287
contig referenceCThr [T]287
45382593375 rs758568546 0.000byFreq synonymousAThr [T]387
contig referenceGThr [T]387
45382601383 rs551364951 0.000byFreqWith1000GenomeData0.0002 missenseTMet [M]290
contig referenceCThr [T]290
45382602384 rs2228064 0.077byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData0.1212 YessynonymousAThr [T]390
contig referenceGThr [T]390
45382603385 rs755551523 0.000 missenseAThr [T]191
contig referenceCPro [P]191
45382608390 rs781529692 0.000 synonymousTHis [H]392
contig referenceCHis [H]392
45382609391 rs200927295 0.000byClusterbyFreqWith1000GenomeData YesmissenseAArg [R]193
contig referenceGGly [G]193
45382619401 rs200200179 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsn [N]296
contig referenceTIle [I]296
45382620402 rs745473821 0.000byFreq synonymousTIle [I]396
contig referenceCIle [I]396
45382621403 rs771513019 0.000 missenseALys [K]197
contig referenceGGlu [E]197
45382623405 rs775103997 0.000 synonymousAGlu [E]397
contig referenceGGlu [E]397
45382625407 rs188284159 0.000byClusterWith1000GenomeData0.0002 YesmissenseATyr [Y]298
contig referenceTPhe [F]298
45382634416 rs760078796 0.000byFreq missenseGCys [C]2101
contig referenceATyr [Y]2101
45382635417 rs768693967 0.000 synonymousTTyr [Y]3101
contig referenceCTyr [Y]3101
45382637419 rs923445285 N.D. missenseAHis [H]2102
contig referenceGArg [R]2102
45382644426 rs267602494 N.D.byCluster YessynonymousTIle [I]3104
contig referenceCIle [I]3104
45382647429 rs140946470 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTThr [T]3105
contig referenceCThr [T]3105
45382648430 rs761701701 0.000byFreq missenseASer [S]1106
contig referenceGGly [G]1106
45382650432 rs150281723 0.002byClusterbyFreqWith1000GenomeData0.0024 YessynonymousTGly [G]3106
contig referenceCGly [G]3106
45382652434 rs373380498 0.000byCluster YesmissenseCAla [A]2107
contig referenceAAsp [D]2107
45382657439 rs372480343 0.000byClusterbyFreq YesmissenseALys [K]1109
contig referenceGGlu [E]1109
45382659441 rs553979205 0.000With1000GenomeData0.0002 synonymousAGlu [E]3109
contig referenceGGlu [E]3109
45382660442 rs139241802 0.000byFreqWith1000GenomeData0.0002 YesmissenseAIle [I]1110
missenseTPhe [F]1110
contig referenceGVal [V]1110
45382671453 rs375527698 0.000byClusterbyFreq YessynonymousAArg [R]3113
contig referenceGArg [R]3113
45382673455 rs781714135 0.000byFreq missenseCAla [A]2114
contig referenceAAsp [D]2114
45382678460 rs753136580 0.000byFreq missenseTCys [C]1116
contig referenceCArg [R]1116
45382679461 rs756492997 0.000 missenseAHis [H]2116
contig referenceGArg [R]2116
45382680462 rs1055561499 N.D. synonymousTArg [R]3116
contig referenceCArg [R]3116
45382681463 rs755292477 N.D. missenseAThr [T]1117
contig referenceGAla [A]1117
45395855464 rs766113756 0.000 missenseTVal [V]2117
contig referenceCAla [A]2117
45395857466 rs753806636 0.000 missenseCGln [Q]1118
contig referenceALys [K]1118
45395859468 rs369195335 0.000byClusterbyFreq YesmissenseTAsn [N]3118
contig referenceGLys [K]3118
45395863472 rs144260980 0.000byClusterbyFreq YesmissenseTSer [S]1120
contig referenceGAla [A]1120
45395866475 rs770564754 0.000 nonsenseT1121
contig referenceCArg [R]1121
45395867476 rs144514664 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCPro [P]2121
contig referenceGArg [R]2121
45395874483 rs368982664 0.000byCluster YessynonymousTAsp [D]3123
contig referenceCAsp [D]3123
45395881490 rs1024942910 N.D. missenseTTyr [Y]1126
contig referenceCHis [H]1126
45395884493 rs775594213 0.000byFreq missenseGVal [V]1127
contig referenceAIle [I]1127
45395889498 rs760729216 0.000byFreq synonymousGLeu [L]3128
contig referenceCLeu [L]3128
45395896505 rs764649978 0.000byFreq missenseTTyr [Y]1131
contig referenceCHis [H]1131
45395898507 rs372437573 0.000byCluster YesmissenseGGln [Q]3131
contig referenceCHis [H]3131
45395899508 rs778803665 0.000byFreq nonsenseT1132
contig referenceCArg [R]1132
45395900509 rs765467323 0.000 missenseAGln [Q]2132
contig referenceGArg [R]2132
45395902511 rs187523060 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTCys [C]1133
contig referenceCArg [R]1133
45395903512 rs148401371 0.000byClusterbyFreq YesmissenseAHis [H]2133
contig referenceGArg [R]2133
45395907516 rs1030535662 N.D. synonymousGLys [K]3134
contig referenceALys [K]3134
45395910519 rs780972170 0.000byFreq synonymousGGlu [E]3135
contig referenceAGlu [E]3135
45395911520 rs747721370 0.000 missenseAMet [M]1136
contig referenceCLeu [L]1136
45395919528 rs950750418 N.D. synonymousTThr [T]3138
contig referenceAThr [T]3138
45395920529 rs199726828 0.000byClusterbyFreq YesmissenseTTrp [W]1139
contig referenceCArg [R]1139
45395921530 rs531067716 N.D.byCluster missenseAGln [Q]2139
contig referenceGArg [R]2139
45395927536 rs777773588 0.000byFreq missenseGArg [R]2141
contig referenceALys [K]2141
45395928537 rs190455427 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGLys [K]3141
contig referenceALys [K]3141
45395931540 rs770783680 0.000byFreq synonymousGGln [Q]3142
contig referenceAGln [Q]3142
45395936545 rs778612367 0.000byFreq missenseAGln [Q]2144
contig referenceGArg [R]2144
45412191546 rs780264294 0.000byFreq synonymousGArg [R]3144
contig referenceAArg [R]3144
45412200555 rs747182768 0.000 synonymousAGlu [E]3147
contig referenceGGlu [E]3147
45412221576 rs749106048 N.D. missenseCPhe [F]3154
contig referenceGLeu [L]3154
45412223578 rs201476005 0.002byCluster YesmissenseAAsn [N]2155
contig referenceGSer [S]2155
45412227582 rs142524463 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTIle [I]3156
contig referenceCIle [I]3156
45412228583 rs560031203 0.000With1000GenomeData0.0002 missenseAAsn [N]1157
contig referenceGAsp [D]1157
45412231586 rs968896012 N.D. missenseAThr [T]1158
contig referenceGAla [A]1158
45412236591 rs761933659 0.000 synonymousGLys [K]3159
contig referenceALys [K]3159
45412242597 rs770266202 0.000 missenseGGln [Q]3161
contig referenceCHis [H]3161
45412246601 rs773768932 0.000 missenseTTyr [Y]1163
contig referenceGAsp [D]1163
45412249604 rs869025237 N.D. Uncertain significancemissenseGVal [V]1164
contig referenceTLeu [L]1164
45412256611 rs763416007 0.000 missenseAHis [H]2166
contig referenceGArg [R]2166
45412263618 rs766792732 0.000byFreq synonymousAIle [I]3168
synonymousTIle [I]3168
contig referenceCIle [I]3168
45412271626 rs760364642 0.000 missenseTVal [V]2171
contig referenceAAsp [D]2171
45412278633 rs1036645395 N.D. synonymousGGlu [E]3173
contig referenceAGlu [E]3173
45412289644 rs747113279 N.D. missenseGGly [G]2177
contig referenceAAsp [D]2177
45412290645 rs151005540 0.000byClusterbyFreq YessynonymousTAsp [D]3177
contig referenceCAsp [D]3177
45412299654 rs995193493 N.D. synonymousCLeu [L]3180
contig referenceGLeu [L]3180
45412304659 rs753345637 0.000byFreq missenseCSer [S]2182
contig referenceATyr [Y]2182
45412305660 rs756787338 0.000 synonymousTTyr [Y]3182
contig referenceCTyr [Y]3182
45412313668 rs778720389 0.000 missenseTVal [V]2185
contig referenceCAla [A]2185
45424043671 rs899974578 N.D. missenseCThr [T]2186
contig referenceTMet [M]2186
45424047675 rs776279650 0.000byFreq synonymousAGlu [E]3187
contig referenceGGlu [E]3187
45424050678 rs759299348 0.000byCluster frame shift-Cys [C]3189
contig referenceCLeu [L]3189
45424051679 rs570065880 0.000byFreqWith1000GenomeData0.0002 synonymousTLeu [L]1189
contig referenceCLeu [L]1189
45424053681 rs943855317 N.D. synonymousALeu [L]3189
contig referenceGLeu [L]3189
45424056684 rs764750532 0.000byFreq missenseGLeu [L]3190
contig referenceCPhe [F]3190
45424058686 rs913111764 N.D. missenseAAsn [N]2191
contig referenceTIle [I]2191
45424064692 rs758369099 0.000 missenseAHis [H]2193
contig referenceGArg [R]2193
45424065693 rs766285713 0.000 synonymousAArg [R]3193
contig referenceCArg [R]3193
45424069697 rs751416399 0.000 missenseGVal [V]1195
contig referenceAMet [M]1195
45424076704 rs754803013 0.000 missenseCThr [T]2197
contig referenceTMet [M]2197
45424087715 rs781279595 0.000 missenseAThr [T]1201
contig referenceTSer [S]1201
45424088716 rs748345682 0.000byFreq missenseGCys [C]2201
contig referenceCSer [S]2201
45424101729 rs141077174 0.000byClusterbyFreq YessynonymousTPhe [F]3205
contig referenceCPhe [F]3205
45424102730 rs201769753 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1206
contig referenceGAla [A]1206
45424104732 rs143505389 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAAla [A]3206
synonymousTAla [A]3206
contig referenceCAla [A]3206
45424105733 rs771622355 0.000byFreq missenseAAsn [N]1207
contig referenceGAsp [D]1207
45424110738 rs774992398 0.000 missenseGLeu [L]3208
contig referenceTPhe [F]3208
45424122750 rs746223035 0.000 synonymousCPhe [F]3212
contig referenceTPhe [F]3212
45424123751 rs371097552 0.000byCluster YesmissenseAIle [I]1213
contig referenceGVal [V]1213
45424126754 rs776167459 0.000 missenseGGlu [E]1214
contig referenceALys [K]1214
45424128756 rs761482218 0.000 missenseCAsn [N]3214
contig referenceGLys [K]3214
45424133761 rs962688038 N.D. missenseAAsn [N]2216
contig referenceGSer [S]2216
45424136764 rs764836044 0.000byFreq missenseGSer [S]2217
contig referenceAAsn [N]2217
45424138766 rs568327472 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGAla [A]1218
contig referenceAThr [T]1218
45424140768 rs762438808 0.000 synonymousGThr [T]3218
contig referenceTThr [T]3218
45424146774 rs372041946 0.000 YessynonymousCSer [S]3220
contig referenceTSer [S]3220
45424963779 rs759477547 0.000 missenseAGln [Q]2222
contig referenceGArg [R]2222
45424968784 rs767328383 0.000 missenseGVal [V]1224
contig referenceAMet [M]1224
45424970786 rs752588031 0.000 missenseCIle [I]3224
contig referenceGMet [M]3224
45424972788 rs369930922 0.000byClusterbyFreq YesmissenseGSer [S]2225
contig referenceAAsn [N]2225
45424992808 rs764413820 0.000byFreq missenseGVal [V]1232
contig referenceAMet [M]1232
45424993809 rs754054670 0.000 missenseCThr [T]2232
contig referenceTMet [M]2232
45424994810 rs757434861 0.000byFreq missenseAIle [I]3232
missenseTIle [I]3232
contig referenceGMet [M]3232
45424996812 rs531029717 0.000With1000GenomeData0.0002 missenseGCys [C]2233
contig referenceTPhe [F]2233
45424999815 rs758990254 0.000 missenseTVal [V]2234
contig referenceGGly [G]2234
45425002818 rs780414635 0.000 missenseGCys [C]2235
contig referenceATyr [Y]2235
45425009825 rs747477089 0.000byFreq synonymousTPhe [F]3237
contig referenceCPhe [F]3237
45425010826 rs768946695 0.000 missenseGVal [V]1238
contig referenceCLeu [L]1238
45425026842 rs777420331 0.000 missenseTLeu [L]2243
contig referenceCPro [P]2243
45425027843 rs991395117 N.D. synonymousGPro [P]3243
contig referenceTPro [P]3243
45425035851 rs748891757 0.000byFreq missenseAAsn [N]2246
contig referenceTIle [I]2246
45425036852 rs917208054 N.D. synonymousTIle [I]3246
contig referenceCIle [I]3246
45425037853 rs146711717 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTTrp [W]1247
contig referenceCArg [R]1247
45425038854 rs140758891 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2247
missenseCPro [P]2247
contig referenceGArg [R]2247
45425041857 rs772112470 0.000 missenseAHis [H]2248
contig referenceGArg [R]2248
45425056872 rs775222857 0.000 missenseTLeu [L]2253
contig referenceCPro [P]2253
45425057873 rs760558754 0.000byFreq synonymousGPro [P]3253
synonymousTPro [P]3253
contig referenceCPro [P]3253
45425058874 rs2228065 0.022byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0325 YesmissenseALys [K]1254
contig referenceGGlu [E]1254
45425060876 rs111472614 0.000byCluster YessynonymousAGlu [E]3254
contig referenceGGlu [E]3254
45425069885 rs186828290 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAPro [P]3257
contig referenceGPro [P]3257
45425070886 rs750572500 0.000 missenseCLeu [L]1258
contig referenceGVal [V]1258
45425077893 rs758405522 0.000byFreq missenseTMet [M]2260
contig referenceCThr [T]2260
45425078894 rs116961353 0.002byClusterbyFreqWith1000GenomeData0.0038 YessynonymousAThr [T]3260
contig referenceGThr [T]3260
45425081897 rs751956085 0.000 synonymousAGlu [E]3261
contig referenceGGlu [E]3261
45425082898 rs755362660 0.000byFreq missenseTLeu [L]1262
contig referenceAMet [M]1262
45425085901 rs868216315 N.D. missenseAIle [I]1263
contig referenceGVal [V]1263
45425088904 rs781496423 0.000 missenseALys [K]1264
contig referenceGGlu [E]1264
45425090906 rs748481307 0.000byFreq synonymousAGlu [E]3264
contig referenceGGlu [E]3264
45425091907 rs756954322 0.000byClusterbyFreq missenseCArg [R]1265
contig referenceTCys [C]1265
45425103919 rs778418203 0.000byFreq missenseGGly [G]1269
missenseTTrp [W]1269
contig referenceCArg [R]1269
45425104920 rs771424855 0.000byFreq missenseAGln [Q]2269
contig referenceGArg [R]2269
45425111927 rs200816253 0.000byClusterWith1000GenomeData YessynonymousTLeu [L]3271
contig referenceCLeu [L]3271
45425113929 rs376649785 0.000byCluster YesmissenseTIle [I]2272
contig referenceGSer [S]2272
45425118934 rs768678668 0.000 missenseALys [K]1274
contig referenceGGlu [E]1274
45425130946 rs776613248 0.000 nonsenseT1278
contig referenceCGln [Q]1278
45428625956 rs755519785 0.000 missenseCThr [T]2281
contig referenceAAsn [N]2281
45428636967 rs767991624 0.000 missenseAMet [M]1285
contig referenceGVal [V]1285
45428638969 rs369157831 0.000byClusterbyFreq YessynonymousAVal [V]3285
contig referenceGVal [V]3285
45428639970 rs756403009 0.000byFreq missenseAAsn [N]1286
missenseTTyr [Y]1286
contig referenceGAsp [D]1286
45428644975 rs745461924 0.000 synonymousCPhe [F]3287
contig referenceTPhe [F]3287
45428650981 rs757957452 0.000byFreq synonymousALeu [L]3289
contig referenceGLeu [L]3289
45428651982 rs900958723 N.D. synonymousTLeu [L]1290
contig referenceCLeu [L]1290
45428660991 rs150216824 0.000byCluster YesmissenseGVal [V]1293
contig referenceAIle [I]1293
45428663994 rs535808410 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1294
contig referenceGAsp [D]1294
45428664995 rs370294843 0.000byCluster YesmissenseCAla [A]2294
contig referenceAAsp [D]2294
454286711002 rs768768474 0.000byFreq synonymousTAsn [N]3296
contig referenceCAsn [N]3296
454286801011 rs776702675 0.000byFreq missenseAGlu [E]3299
contig referenceCAsp [D]3299
454286881019 rs201471525 0.000byClusterbyFreq YesmissenseTIle [I]2302
contig referenceCThr [T]2302
454286921023 rs199926259 0.000byClusterWith1000GenomeData0.0002 YessynonymousGLeu [L]3303
contig referenceCLeu [L]3303
454286951026 rs45598533 N.D. YessynonymousAGln [Q]3304
contig referenceGGln [Q]3304
454286991030 rs769421758 0.000 synonymousTLeu [L]1306
contig referenceCLeu [L]1306
454287021033 rs773509478 0.000byFreq missenseAThr [T]1307
contig referenceGAla [A]1307
454287041035 rs763050647 0.000 synonymousAAla [A]3307
contig referenceCAla [A]3307
454287051036 rs28395872 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1308
missenseTSer [S]1308
contig referenceGAla [A]1308
454287281059 rs759600909 0.000 synonymousALys [K]3315
contig referenceGLys [K]3315
454287291060 rs768081589 0.000 missenseCHis [H]1316
contig referenceAAsn [N]1316
454287311062 rs534018579 0.000byFreqWith1000GenomeData0.0002 synonymousTAsn [N]3316
contig referenceCAsn [N]3316
454287321063 rs761122303 0.000 synonymousTLeu [L]1317
contig referenceCLeu [L]1317
454287401071 rs376303888 0.000byCluster YessynonymousTAsn [N]3319
contig referenceCAsn [N]3319
454287481079 rs754198918 0.000 missenseAAsp [D]2322
contig referenceTVal [V]2322
454287491080 rs762204941 N.D. synonymousTVal [V]3322
contig referenceCVal [V]3322
454287531084 rs758032522 0.000byFreq missenseGVal [V]1324
contig referenceAIle [I]1324
454287541085 rs779835358 0.000 missenseCThr [T]2324
contig referenceTIle [I]2324
454404341100 rs138855994 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGSer [S]2329
contig referenceAAsn [N]2329
454404431109 rs954471371 N.D. missenseGArg [R]2332
missenseTLeu [L]2332
contig referenceCPro [P]2332
454404441110 rs146362560 0.001byClusterbyFreqWith1000GenomeData0.0022 YesuntestedsynonymousAPro [P]3332
contig referenceGPro [P]3332
454404491115 rs762229821 0.000 missenseGGly [G]2334
contig referenceAAsp [D]2334
454404511117 rs368161745 0.000byClusterbyFreq YesmissenseALys [K]1335
contig referenceGGlu [E]1335
454404561122 rs751201354 0.000byFreq synonymousTAsn [N]3336
contig referenceCAsn [N]3336
454404571123 rs28395860 0.001byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTSer [S]1337
contig referenceCPro [P]1337
454404601126 rs779501045 N.D. missenseGVal [V]1338
contig referenceAIle [I]1338
454404701136 rs780812745 0.000 missenseTLeu [L]2341
contig referenceCPro [P]2341
454404731139 rs989659749 N.D. missenseTLeu [L]2342
contig referenceCSer [S]2342
454404741140 rs367766299 0.000byClusterbyFreq YessynonymousASer [S]3342
contig referenceGSer [S]3342
454404761142 rs1009787385 N.D. missenseGGly [G]2343
contig referenceAAsp [D]2343
454404861152 rs371711392 0.000byClusterbyFreq YessynonymousTTyr [Y]3346
contig referenceCTyr [Y]3346
454404871153 rs373773649 N.D. YesmissenseAAsn [N]1347
contig referenceGAsp [D]1347
454404971163 rs777753439 0.000byFreq missenseCSer [S]2350
contig referenceTLeu [L]2350
454405001166 rs28395870 0.064byFreq YesmissenseGGly [G]2351
contig referenceCAla [A]2351
454405031169 rs749106042 0.000 missenseCThr [T]2352
contig referenceALys [K]2352
454405111177 rs770647919 0.000 missenseAMet [M]1355
contig referenceGVal [V]1355
454405131179 rs1045059978 N.D. synonymousAVal [V]3355
contig referenceGVal [V]3355
454405141180 rs779128700 0.000 missenseTCys [C]1356
contig referenceCArg [R]1356
454405151181 rs746046438 0.000byClusterbyFreq missenseAHis [H]2356
contig referenceGArg [R]2356
454405291195 rs748963509 0.000byFreq missenseGAsp [D]1361
contig referenceCHis [H]1361
454405321198 rs200185014 0.000byClusterbyFreqWith1000GenomeData YesmissenseAIle [I]1362
contig referenceGVal [V]1362
454405411207 rs747097580 0.000 missenseGAla [A]1365
contig referenceAThr [T]1365
454405591225 rs542698432 0.000byFreqWith1000GenomeData0.0002 nonsenseT1371
contig referenceCArg [R]1371
454405601226 rs1047630934 N.D. missenseAGln [Q]2371
contig referenceGArg [R]2371
454405611227 rs191951798 0.000byClusterWith1000GenomeData0.0002 YessynonymousGArg [R]3371
contig referenceAArg [R]3371
454405631229 rs762095751 0.000byFreq missenseTIle [I]2372
contig referenceCThr [T]2372
454405661232 rs765649864 0.000 missenseTLeu [L]2373
contig referenceAHis [H]2373
454405681234 rs754005003 0.000 frame shiftTGly [G]1375
contig reference-Val [V]1375
454405731239 rs774180136 0.000 synonymousAVal [V]3375
contig referenceGVal [V]3375
454405741240 rs759303080 0.000byFreq missenseAThr [T]1376
contig referenceTSer [S]1376
454405771243 rs767260151 0.000byFreq missenseALys [K]1377
missenseCGln [Q]1377
contig referenceGGlu [E]1377
454405871253 rs755648894 0.000 missenseCAla [A]2380
contig referenceGGly [G]2380
454405911257 rs763945960 0.000 synonymousAIle [I]3381
contig referenceTIle [I]3381
454405931259 rs143675525 0.000byCluster YesmissenseTVal [V]2382
contig referenceCAla [A]2382
454405981264 rs757072938 0.000 missenseCHis [H]1384
contig referenceTTyr [Y]1384
454406041270 rs778716193 0.000 missenseALys [K]1386
contig referenceCGln [Q]1386
454406131279 rs964795685 N.D. missenseAThr [T]1389
contig referenceGAla [A]1389
454406151281 rs528054699 0.000With1000GenomeData0.0002 synonymousCAla [A]3389
contig referenceTAla [A]3389
454406181284 rs745636462 0.000 synonymousAVal [V]3390
contig referenceGVal [V]3390
454406181284 rs755310822 0.000 frame shift-Thr [T]3391
contig referenceGHis [H]3391
454406251291 rs758677236 0.000 missenseGVal [V]1393
contig referenceAIle [I]1393
454406311297 rs940508844 N.D. missenseGGlu [E]1395
contig referenceALys [K]1395
454413571313 rs780151853 0.000byFreq missenseGArg [R]2400
contig referenceAHis [H]2400
454413581314 rs747203648 0.000byFreq synonymousTHis [H]3400
contig referenceCHis [H]3400
454413591315 rs755046400 0.000byClusterbyFreq missenseAMet [M]1401
contig referenceGVal [V]1401
454413601316 rs867418482 N.D. frame shiftCCAsp [D]2403
contig reference-Phe [F]2403
454413671323 rs148091491 0.000byCluster YessynonymousTPhe [F]3403
contig referenceCPhe [F]3403
454413761332 rs199817580 0.002byCluster YessynonymousGAla [A]3406
contig referenceAAla [A]3406
454413771333 rs752546064 0.000 -1407
454413821338 rs144067791 0.000byCluster YessynonymousTAsn [N]3408
contig referenceCAsn [N]3408
454413881344 rs778423379 0.000byClusterbyFreq missenseCAsn [N]3410
synonymousALys [K]3410
contig referenceGLys [K]3410
454413921348 rs749677954 0.000byFreq missenseTCys [C]1412
contig referenceCArg [R]1412
454413931349 rs561228949 0.000byCluster missenseAHis [H]2412
contig referenceGArg [R]2412
454414091365 rs775034649 0.000 synonymousTCys [C]3417
contig referenceCCys [C]3417
454414101366 rs760412917 0.000byFreq missenseALys [K]1418
contig referenceGGlu [E]1418
454414161372 rs768167148 0.000byFreq missenseASer [S]1420
contig referenceGGly [G]1420
454414181374 rs776258949 0.001byFreq synonymousAGly [G]3420
synonymousGGly [G]3420
synonymousTGly [G]3420
contig referenceCGly [G]3420
454430411390 rs746202423 0.000 missenseGAsp [D]1426
contig referenceAAsn [N]1426
454430431392 rs537072496 0.000byClusterbyFreq missenseGLys [K]3426
synonymousTAsn [N]3426
contig referenceCAsn [N]3426
454430451394 rs776198562 0.000 missenseAAsp [D]2427
contig referenceCAla [A]2427
454430501399 rs777548521 0.000 -1432
454430521401 rs761325956 0.000 synonymousAGly [G]3429
contig referenceGGly [G]3429
454430551404 rs781262591 N.D. synonymousTGly [G]3430
contig referenceCGly [G]3430
454430581407 rs769243207 0.000 synonymousCGly [G]3431
contig referenceTGly [G]3431
454430601409 rs773162136 0.000 missenseAGlu [E]2432
contig referenceGGly [G]2432
454430611410 rs147327397 0.002byClusterbyFreqWith1000GenomeData0.0020 YessynonymousAGly [G]3432
synonymousCGly [G]3432
synonymousTGly [G]3432
contig referenceGGly [G]3432
454430621411 rs759246654 0.000 missenseAAsn [N]1433
contig referenceCHis [H]1433
454430641413 rs767787897 0.000 synonymousTHis [H]3433
contig referenceCHis [H]3433
454430651414 rs554154845 0.000byFreqWith1000GenomeData0.0004 missenseAMet [M]1434
contig referenceGVal [V]1434
454430671416 rs756287174 0.000 synonymousAVal [V]3434
contig referenceGVal [V]3434
454430681417 rs778036906 0.000byFreq missenseALys [K]1435
contig referenceCGln [Q]1435
454430691418 rs753942816 0.000byFreq missenseGArg [R]2435
contig referenceAGln [Q]2435
454430761425 rs757837007 0.000 synonymousAVal [V]3437
contig referenceGVal [V]3437
454430781427 rs1013946436 N.D. missenseCPro [P]2438
contig referenceAGln [Q]2438
454430831432 rs779279218 0.000 missenseAThr [T]1440
contig referenceGAla [A]1440
454430841433 rs746248416 0.000 missenseTVal [V]2440
contig referenceCAla [A]2440
454430871436 rs572629091 0.000With1000GenomeData0.0002 missenseGArg [R]2441
contig referenceTMet [M]2441
454430911440 rs780844592 0.000byFreq synonymousALys [K]3442
contig referenceGLys [K]3442
454431041453 rs28395869 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTSer [S]1447
contig referenceGAla [A]1447
454431061455 rs202085482 0.002 YessynonymousTAla [A]3447
contig referenceCAla [A]3447
454431071456 rs375848132 0.000byCluster YesmissenseCPro [P]1448
contig referenceTSer [S]1448
454431101459 rs772760111 0.000 synonymousTLeu [L]1449
contig referenceCLeu [L]1449
454431121461 rs139206290 0.000 YessynonymousALeu [L]3449
contig referenceGLeu [L]3449
454431191468 rs748735175 0.000byFreq missenseTSer [S]1452
contig referenceCPro [P]1452
454431211470 rs770967924 0.000 synonymousTPro [P]3452
contig referenceCPro [P]3452
454431271476 rs774093518 0.000byFreq synonymousTAla [A]3454
contig referenceCAla [A]3454
454431301479 rs201465951 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGMet [M]3455
contig referenceCIle [I]3455
454431311480 rs200392948 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGlu [E]1456
contig referenceALys [K]1456
454431341483 rs775888283 0.000 missenseAThr [T]1457
contig referenceGAla [A]1457
454431531502 rs747005625 0.000byCluster -2464
454431691518 rs371476693 0.000byClusterbyFreq YessynonymousTTyr [Y]3468
contig referenceCTyr [Y]3468
454431701519 rs764395353 0.000 missenseCHis [H]1469
contig referenceTTyr [Y]1469
454431841533 rs754034177 0.000 synonymousTAsp [D]3473
contig referenceCAsp [D]3473
454431851534 rs757213685 0.000 missenseAAsn [N]1474
contig referenceGAsp [D]1474
454431871536 rs543892108 0.000With1000GenomeData0.0002 synonymousTAsp [D]3474
contig referenceCAsp [D]3474
454431881537 rs750846482 0.000 missenseCArg [R]1475
contig referenceGGly [G]1475
454431891538 rs758819437 0.000byFreq missenseAGlu [E]2475
missenseTVal [V]2475
contig referenceGGly [G]2475
454431911540 rs747354199 0.000 missenseTPhe [F]1476
contig referenceCLeu [L]1476
454431921541 rs373272108 0.000byCluster YesmissenseAHis [H]2476
contig referenceTLeu [L]2476
454431961545 rs562078963 0.000byFreqWith1000GenomeData0.0004 synonymousALeu [L]3477
contig referenceGLeu [L]3477
454432031552 rs748836216 0.000 missenseALys [K]1480
contig referenceGGlu [E]1480
454432131562 rs770292749 0.000 missenseALys [K]2483
contig referenceGArg [R]2483
454432161565 rs919678209 N.D. missenseTMet [M]2484
contig referenceCThr [T]2484
454434191569 rs776942877 0.000byClusterbyFreq missenseALeu [L]3485
contig referenceCPhe [F]3485
454434221572 rs965936120 N.D. synonymousAThr [T]3486
contig referenceGThr [T]3486
454434231573 rs199542576 0.000byClusterWith1000GenomeData0.0002 YesmissenseAThr [T]1487
contig referenceGAla [A]1487
454434251575 rs376874561 0.000byCluster YessynonymousTAla [A]3487
contig referenceCAla [A]3487
454434261576 rs770033748 0.000 missenseALys [K]1488
contig referenceGGlu [E]1488
454434271577 rs773224245 0.000 missenseTVal [V]2488
contig referenceAGlu [E]2488
454434311581 rs763018509 0.000byFreq synonymousAVal [V]3489
contig referenceGVal [V]3489
454434371587 rs766877023 0.000 synonymousTAsp [D]3491
contig referenceCAsp [D]3491
454434381588 rs199657122 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGVal [V]1492
contig referenceAIle [I]1492
454434411591 rs554497234 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1493
missenseCHis [H]1493
contig referenceTTyr [Y]1493
454434421592 rs913502418 N.D. missenseGCys [C]2493
contig referenceATyr [Y]2493
454434431593 rs753078437 0.000 synonymousTTyr [Y]3493
contig referenceCTyr [Y]3493
454434491599 rs756915145 0.000 synonymousAGlu [E]3495
contig referenceGGlu [E]3495
454434501600 rs370640705 0.000byClusterbyFreq YesmissenseASer [S]1496
contig referenceGGly [G]1496
454434511601 rs749902144 0.000 missenseAAsp [D]2496
contig referenceGGly [G]2496
454434571607 rs757919912 0.000byFreq missenseGArg [R]2498
contig referenceAGln [Q]2498
454434591609 rs572643270 0.000With1000GenomeData0.0002 missenseAMet [M]1499
contig referenceGVal [V]1499
454434601610 rs55854006 N.D.byCluster Yesframe shift-Gly [G]2499
contig referenceTVal [V]2499
454434621612 rs746902367 0.000byFreq missenseAMet [M]1500
contig referenceGVal [V]1500
454434641614 rs762183261 0.000 -3502
454434671617 rs768682288 0.000 synonymousAGlu [E]3501
contig referenceGGlu [E]3501
454434691619 rs373344486 0.000byClusterbyFreq YesmissenseCAla [A]2502
contig referenceAGlu [E]2502
454434751625 rs143257667 0.000byClusterbyFreq YesmissenseTLeu [L]2504
contig referenceCPro [P]2504
454434781628 rs773417384 0.000byFreq missenseGGly [G]2505
contig referenceAGlu [E]2505
454434791629 rs925980915 N.D. synonymousAGlu [E]3505
contig referenceGGlu [E]3505
454434811631 rs763034929 0.000 missenseCPro [P]2506
contig referenceTLeu [L]2506
454434821632 rs770952499 0.000 synonymousALeu [L]3506
contig referenceGLeu [L]3506
454434851635 rs774874256 0.000byFreq synonymousAGln [Q]3507
contig referenceGGln [Q]3507
454434961646 rs760079146 0.000 missenseGSer [S]2511
contig referenceAAsn [N]2511
454434981648 rs768049838 0.000 missenseAAsn [N]1512
contig referenceGAsp [D]1512
454435031653 rs937440774 N.D. synonymousGVal [V]3513
contig referenceCVal [V]3513
454435051655 rs753067717 0.000 missenseCSer [S]2514
contig referenceATyr [Y]2514
454435071657 rs1056320124 N.D. missenseCLeu [L]1515
contig referenceGVal [V]1515
454435161666 rs761032132 0.000byFreq missenseTLeu [L]1518
contig referenceAMet [M]1518
454435171667 rs764806626 0.000 missenseGArg [R]2518
contig referenceTMet [M]2518
454435191669 rs866340744 N.D. missenseTTrp [W]1519
contig referenceCArg [R]1519
454435221672 rs750043873 0.000 missenseTCys [C]1520
contig referenceGGly [G]1520
454435231673 rs374296099 0.000byCluster YesmissenseAAsp [D]2520
contig referenceGGly [G]2520
454435251675 rs766026494 0.000 missenseTCys [C]1521
contig referenceCArg [R]1521
454435261676 rs368826060 0.000byClusterbyFreq YesmissenseCPro [P]2521
contig referenceGArg [R]2521
454435271677 rs894947287 N.D. synonymousGArg [R]3521
contig referenceCArg [R]3521
454435281678 rs781186352 0.000 missenseGGlu [E]1522
contig referenceALys [K]1522
454435291679 rs747902617 0.000 missenseTMet [M]2522
contig referenceALys [K]2522
454435301680 rs755881004 0.000 synonymousALys [K]3522
contig referenceGLys [K]3522
454437321692 rs773564363 0.000byCluster frame shift-Ser [S]3528
contig referenceCLys [K]3528
454437351695 rs745945361 0.000 synonymousGPro [P]3527
contig referenceCPro [P]3527
454437411701 rs772139044 0.000byFreq synonymousTSer [S]3529
contig referenceGSer [S]3529
454437441704 rs150738590 0.000byCluster YessynonymousTVal [V]3530
contig referenceCVal [V]3530
454437451705 rs897029021 N.D. missenseCGln [Q]1531
contig referenceALys [K]1531
454437471707 rs747589653 0.000 missenseCAsn [N]3531
contig referenceGLys [K]3531
454437561716 rs769019372 0.000 synonymousAGlu [E]3534
contig referenceGGlu [E]3534
454437591719 rs372302101 0.000byClusterbyFreq YessynonymousAGln [Q]3535
contig referenceGGln [Q]3535
454437621722 rs762263678 0.000 synonymousTLeu [L]3536
contig referenceGLeu [L]3536
454437651725 rs766134725 0.000 synonymousCSer [S]3537
contig referenceGSer [S]3537
454437661726 rs774090194 0.000 nonsenseT1538
contig referenceGGlu [E]1538
454437711731 rs758992797 0.000 synonymousTTyr [Y]3539
contig referenceCTyr [Y]3539
454437771737 rs375279868 0.000byCluster YessynonymousGThr [T]3541
contig referenceCThr [T]3541
454437781738 rs139110463 0.000byClusterbyFreq YesmissenseAMet [M]1542
contig referenceGVal [V]1542
454437811741 rs764673527 N.D. missenseCLeu [L]1543
contig referenceGVal [V]1543
454437871747 rs369339657 0.000 YesmissenseCLeu [L]1545
contig referenceTPhe [F]1545
454437921752 rs545663974 0.000With1000GenomeData0.0002 synonymousTThr [T]3546
contig referenceCThr [T]3546
454437991759 rs753702775 0.000 missenseTSer [S]1549
contig referenceGAla [A]1549
454438001760 rs113388968 0.500 YesmissenseTVal [V]2549
contig referenceCAla [A]2549
454438071767 rs888080240 N.D. missenseGGln [Q]3551
contig referenceCHis [H]3551
454438101770 rs149908407 0.000byClusterbyFreq YessynonymousTAla [A]3552
contig referenceCAla [A]3552
454438131773 rs779127040 0.000byFreq synonymousAAla [A]3553
synonymousTAla [A]3553
contig referenceGAla [A]3553
454438231783 rs758515927 0.000 missenseASer [S]1557
missenseCArg [R]1557
contig referenceGGly [G]1557
454441211794 rs143856815 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsp [D]3560
contig referenceCAsp [D]3560
454441411814 rs959200636 N.D. missenseGSer [S]2567
contig referenceAAsn [N]2567
454441451818 rs1053670441 N.D. frame shiftCAsn [N]3571
contig reference-Thr [T]3571
454441501823 rs758702729 0.000byFreq missenseAGln [Q]2570
contig referenceCPro [P]2570
454441661839 rs780135355 0.000 synonymousAPro [P]3575
contig referenceGPro [P]3575
454441691842 rs2229136 0.146byClusterbyFreqWith1000GenomeData0.0867 YessynonymousGPro [P]3576
synonymousGPro [P]3576
contig referenceAPro [P]3576
contig referenceAPro [P]3576
454441711844 rs143439556 0.000byCluster YesmissenseTLeu [L]2577
contig referenceCPro [P]2577
454441781851 rs1011779284 N.D. synonymousTAla [A]3579
contig referenceCAla [A]3579
454441821855 rs867885078 N.D. missenseTCys [C]1581
contig referenceGGly [G]1581
454441831856 rs199929212 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsp [D]2581
contig referenceGGly [G]2581
454441851858 rs577934345 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1582
contig referenceGVal [V]1582
454441871860 rs770394121 0.000 synonymousAVal [V]3582
contig referenceGVal [V]3582
454441891862 rs778252917 0.000 missenseGGly [G]2583
contig referenceTVal [V]2583
454442001873 rs889878943 N.D. nonsenseT1587
contig referenceCGln [Q]1587
454442101883 rs545727554 0.001byFreqWith1000GenomeData0.0004 missenseGGly [G]2590
contig referenceAAsp [D]2590
454442111884 rs202007299 N.D.With1000GenomeData YessynonymousTAsp [D]3590
contig referenceCAsp [D]3590
454442121885 rs749605035 0.000byFreq missenseGAla [A]1591
contig referenceAThr [T]1591
454442131886 rs146768497 0.000byCluster YesmissenseTMet [M]2591
contig referenceCThr [T]2591
454442171890 rs774942729 0.000 synonymousALeu [L]3592
contig referenceGLeu [L]3592
454442201893 rs760196077 0.000 synonymousTPro [P]3593
contig referenceCPro [P]3593
454442271900 rs768112272 0.000 missenseASer [S]1596
contig referenceGGly [G]1596
454442301903 rs776084947 0.000 missenseTCys [C]1597
contig referenceCArg [R]1597
454442311904 rs919359268 N.D. missenseAHis [H]2597
contig referenceGArg [R]2597
454442371910 rs761786219 0.000 missenseTPhe [F]2599
contig referenceGCys [C]2599
454442471920 rs984346080 N.D. synonymousALeu [L]3602
contig referenceGLeu [L]3602
454442611934 rs994081039 N.D. missenseTVal [V]2607
contig referenceCAla [A]2607
454442671940 rs909739044 N.D. missenseAAsn [N]2609
contig referenceGSer [S]2609
454442681941 rs1027345638 N.D. missenseGArg [R]3609
contig referenceCSer [S]3609
454442731946 rs942608209 N.D. missenseCSer [S]2611
contig referenceTPhe [F]2611
454442831956 rs765143957 0.000byFreq missenseALys [K]3614
contig referenceCAsn [N]3614
454455101962 rs570534529 N.D. synonymousTLeu [L]3616
contig referenceGLeu [L]3616
454455161968 rs757511158 0.000 synonymousALeu [L]3618
contig referenceGLeu [L]3618
454455181970 rs559240229 0.000With1000GenomeData0.0002 missenseCAla [A]2619
contig referenceGGly [G]2619
454455201972 rs746702651 0.000byFreq missenseGVal [V]1620
contig referenceAMet [M]1620
454455211973 rs768271894 0.000 missenseCThr [T]2620
contig referenceTMet [M]2620
454455241976 rs776174953 0.000 missenseTPhe [F]2621
contig referenceATyr [Y]2621
454455281980 rs201500259 0.000byClusterWith1000GenomeData0.0002 YessynonymousTPro [P]3622
contig referenceAPro [P]3622
454455311983 rs747651195 0.000 synonymousGGlu [E]3623
contig referenceAGlu [E]3623
454455401992 rs769774252 0.000byFreq missenseGLeu [L]3626
contig referenceTPhe [F]3626
454455411993 rs957289897 N.D. missenseGVal [V]1627
contig referenceAIle [I]1627
454455431995 rs772964649 0.000 synonymousTIle [I]3627
contig referenceCIle [I]3627
454455441996 rs762829268 0.000 missenseALys [K]1628
contig referenceGGlu [E]1628
454455532005 rs939285088 N.D. missenseAMet [M]1631
contig referenceGVal [V]1631
454455572009 rs766049195 0.000 missenseGArg [R]2632
contig referenceALys [K]2632
454455592011 rs774166690 0.000 missenseALys [K]1633
contig referenceGGlu [E]1633
454455702022 rs759888211 0.000 synonymousTAla [A]3636
contig referenceCAla [A]3636
454455712023 rs34852267 0.000byClusterbyFreq YesnonsenseT1637
contig referenceCArg [R]1637
454455722024 rs756201127 0.000byClusterbyFreq missenseAGln [Q]2637
contig referenceGArg [R]2637
454455772029 rs764678888 0.000byFreq missenseTCys [C]1639
contig referenceCArg [R]1639
454455782030 rs754256319 0.000 missenseAHis [H]2639
contig referenceGArg [R]2639
454455882040 rs28395861 0.001byClusterbyFreq YessynonymousGLeu [L]3642
contig referenceCLeu [L]3642
454455962048 rs746216545 0.000 missenseCThr [T]2645
contig referenceTIle [I]2645
454456002052 rs1803918 0.000byFreqWith1000GenomeData0.0002 YessynonymousAVal [V]3646
synonymousGVal [V]3646
synonymousTVal [V]3646
contig referenceCVal [V]3646
454456022054 rs747669745 0.000byFreq missenseTIle [I]2647
contig referenceGSer [S]2647
454456032055 rs769137889 0.000 synonymousTSer [S]3647
contig referenceCSer [S]3647
454456042056 rs142632017 0.000byClusterbyFreq YesmissenseAMet [M]1648
missenseTLeu [L]1648
contig referenceGVal [V]1648
454456062058 rs770880019 0.000 synonymousAVal [V]3648
contig referenceGVal [V]3648
454456102062 rs774348612 0.000byFreq missenseAThr [T]1650
contig referenceGAla [A]1650
454456132065 rs759403458 0.000 missenseALys [K]1651
contig referenceGGlu [E]1651
454456162068 rs151270582 0.000byClusterbyFreq YesmissenseASer [S]1652
missenseTCys [C]1652
contig referenceCArg [R]1652
454456172069 rs760835318 0.000byFreq missenseAHis [H]2652
contig referenceGArg [R]2652
454456212073 rs376376579 0.000byCluster YesmissenseGLys [K]3653
contig referenceCAsn [N]3653
454456222074 rs750469694 0.000byClusterbyFreq -1656
454456252077 rs1025921734 N.D. missenseGGlu [E]1655
contig referenceALys [K]1655
454456282080 rs140481567 0.003byClusterbyFreqWith1000GenomeData0.0024 YesmissenseCGln [Q]1656
contig referenceALys [K]1656
454456322084 rs762281879 0.000byFreq missenseTLeu [L]2657
contig referenceAGln [Q]2657
454456332085 rs765768584 0.000byFreq missenseCHis [H]3657
contig referenceGGln [Q]3657
454456362088 rs750790261 0.000 synonymousALeu [L]3658
contig referenceGLeu [L]3658
454456432095 rs758703667 0.000 missenseCHis [H]1661
contig referenceTTyr [Y]1661
454456602112 rs752771587 N.D. synonymousTAsp [D]3666
contig referenceCAsp [D]3666
454456612113 rs780844866 0.000byFreq missenseTTrp [W]1667
contig referenceCArg [R]1667
454456622114 rs758477278 0.000byFreq missenseAGln [Q]2667
contig referenceGArg [R]2667
454456662118 rs755761442 0.000 synonymousCIle [I]3668
contig referenceTIle [I]3668
454456682120 rs777199179 0.000 missenseTLeu [L]2669
contig referenceCPro [P]2669
454456692121 rs150435655 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAPro [P]3669
contig referenceGPro [P]3669
454456822134 rs770842622 0.000 missenseGVal [V]1674
contig referenceAIle [I]1674

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