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dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
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SNP linked to Gene (geneID:3581) 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): 18
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_002186.2plus strandNP_002177.2forwardNT_011681.17GRCh38.p2<- currently shown
NM_002186.2plus strandNP_002177.2forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545652.1plus strandXP_011543954.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545651.1plus strandXP_011543953.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545650.1plus strandXP_011543952.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545649.1plus strandXP_011543951.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545647.1plus strandXP_011543949.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545646.1plus strandXP_011543948.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011545645.1plus strandXP_011543947.1forwardNT_167206.2GRCh38.p2View snp on GeneModel
XM_011531157.1plus strandXP_011529459.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
XM_011531156.1plus strandXP_011529458.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
XM_011531155.1plus strandXP_011529457.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
XM_011531154.1plus strandXP_011529456.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
XM_011531153.1plus strandXP_011529455.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
XM_011531152.1plus strandXP_011529454.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
XM_011531151.1plus strandXP_011529453.1forwardNT_011681.17GRCh38.p2View snp on GeneModel
NM_176786.1plus strandNP_789743.2forwardNT_167206.2GRCh38.p2View snp on GeneModel
NM_176786.1plus strandNP_789743.2forwardNT_011681.17GRCh38.p2View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_011681.17NM_002186.2NP_002177.2forwardplus strand397, 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
155997766186 rs533910398 N.D.byCluster missenseGVal [V]13
contig referenceCLeu [L]13
155997777197 rs763829293 0.000byFreq synonymousTCys [C]36
contig referenceCCys [C]36
155997781201 rs751168688 0.000 missenseCArg [R]18
contig referenceTTrp [W]18
155997786206 rs368398591 N.D. missenseTAsp [D]39
contig referenceAGlu [E]39
155997787207 rs372320860 0.000byCluster missenseASer [S]110
contig referenceGGly [G]110
156002911213 rs762841277 0.000byFreq missenseGAla [A]112
contig referenceAThr [T]112
156002912214 rs763751131 0.000byFreq missenseTIle [I]212
contig referenceCThr [T]212
156002921223 rs774270681 0.000byFreq missenseAAsn [N]215
contig referenceGSer [S]215
156002923225 rs761022897 0.000 missenseALys [K]116
contig referenceGGlu [E]116
156002933235 rs766705043 0.000 missenseALys [K]219
contig referenceGArg [R]219
156002934236 rs190109010 0.004byClusterbyFreqWith1000GenomeData0.0022 synonymousAArg [R]319
contig referenceGArg [R]319
156002935237 rs200285486 0.002byClusterbyFreqWith1000GenomeData0.0012 nonsenseT120
contig referenceCArg [R]120
156002936238 rs372322566 0.000byClusterbyFreq missenseAGln [Q]220
contig referenceGArg [R]220
156002937239 rs753094605 0.000 synonymousTArg [R]320
contig referenceAArg [R]320
156002938240 rs758915557 0.000 missenseTTyr [Y]121
contig referenceGAsp [D]121
156002941243 rs778150032 0.000 missenseTLeu [L]122
contig referenceAMet [M]122
156002949251 rs747368740 0.000 synonymousTThr [T]324
contig referenceCThr [T]324
156002952254 rs756958466 0.000byFreq missenseTCys [C]325
contig referenceGTrp [W]325
156002953255 rs780761089 0.000 missenseTPhe [F]126
contig referenceCLeu [L]126
156002960262 rs765700574 0.000 CTGCAT [IC]233
156002963265 rs745383707 0.000 missenseCSer [S]229
contig referenceGCys [C]229
156002971273 rs769143832 0.000 missenseGVal [V]132
contig referenceAIle [I]132
156002973275 rs775011438 0.000 -334
156002981283 rs775523235 0.000 missenseATyr [Y]235
contig referenceGCys [C]235
156002999301 rs749235771 0.000byFreq missenseGCys [C]241
contig referenceCSer [S]241
156003001303 rs768611857 0.000 missenseAIle [I]142
contig referenceGVal [V]142
156003009311 rs773986856 0.000byClusterWith1000GenomeData0.0002 synonymousAGly [G]344
contig referenceGGly [G]344
156003010312 rs762474740 0.000 frame shift(32bp)Val [V]145
contig reference-Glu [E]145
156003012314 rs761687574 0.000byFreq missenseTAsp [D]345
synonymousGGlu [E]345
contig referenceAGlu [E]345
156003014316 rs776928200 0.000 missenseAGlu [E]246
contig referenceGGly [G]246
156003015317 rs759694051 0.000 synonymousTGly [G]346
contig referenceAGly [G]346
156003016318 rs765281177 0.000 nonsenseT147
contig referenceCGln [Q]147
156003017319 rs752788533 0.000 missenseGArg [R]247
contig referenceAGln [Q]247
156003018320 rs758894373 0.000 synonymousGGln [Q]347
contig referenceAGln [Q]347
156003019321 rs199705686 0.000byClusterWith1000GenomeData missenseCArg [R]148
contig referenceGGly [G]148
156003449322 rs748051066 0.000byFreq missenseAGlu [E]248
contig referenceGGly [G]248
156003450323 rs3093494 0.097byClusterbyFreqWith1000GenomeData0.0513 synonymousTGly [G]348
contig referenceGGly [G]348
156003456329 rs777493444 0.000byFreq missenseTSer [S]350
contig referenceGArg [R]350
156003458331 rs746806551 0.000 missenseGCys [C]251
contig referenceCSer [S]251
156003463336 rs769921535 0.000byFreq missenseCPro [P]153
contig referenceAThr [T]153
156003469342 rs775711342 0.002byFreq missenseCPro [P]155
contig referenceAThr [T]155
156003470343 rs762970860 0.000 missenseTIle [I]255
contig referenceCThr [T]255
156003480353 rs768670933 0.000 synonymousTThr [T]358
contig referenceCThr [T]358
156003481354 rs774390156 0.000 missenseTTyr [Y]159
contig referenceAAsn [N]159
156003493366 rs140782989 0.000byCluster synonymousCArg [R]163
contig referenceAArg [R]163
156003494367 rs3093495 0.004byClusterbyFreqWith1000GenomeData0.0018 missenseALys [K]263
contig referenceGArg [R]263
156003499372 rs750814045 0.000byFreq missenseAAsn [N]165
missenseTTyr [Y]165
contig referenceGAsp [D]165
156003503376 rs753695771 N.D. missenseATyr [Y]266
contig referenceGCys [C]266
156003506379 rs375571916 0.000byCluster missenseTLeu [L]267
contig referenceAHis [H]267
156003511384 rs190111819 0.000byClusterbyFreqWith1000GenomeData missenseAThr [T]169
missenseCPro [P]169
contig referenceTSer [S]169
156003514387 rs764877822 0.000byFreq missenseAThr [T]170
missenseCPro [P]170
missenseTSer [S]170
contig referenceGAla [A]170
156003517390 rs777708074 0.000 missenseAThr [T]171
contig referenceCPro [P]171
156003531404 rs746781091 0.000 synonymousAGln [Q]375
contig referenceGGln [Q]375
156003539412 rs757032783 0.000byFreq missenseTIle [I]278
contig referenceGSer [S]278
156003545418 rs182426355 0.000byClusterWith1000GenomeData0.0002 nonsenseA280
contig referenceGTrp [W]280
156003546419 rs749558673 0.000 missenseCCys [C]380
contig referenceGTrp [W]380
156003551424 rs768838372 0.000 missenseCPro [P]282
contig referenceTLeu [L]282
156003552425 rs769962448 0.000byClusterWith1000GenomeData0.0002 synonymousGLeu [L]382
contig referenceCLeu [L]382
156003557430 rs763665621 0.000 frame shift-Ala [A]285
contig referenceCSer [S]285
156003677434 rs775239597 0.000 missenseAArg [R]385
contig referenceCSer [S]385
156003684441 rs762571736 0.000byFreq missenseAThr [T]188
missenseCPro [P]188
contig referenceGAla [A]188
156003692449 rs750999902 0.000byFreq synonymousAGly [G]390
contig referenceCGly [G]390
156003693450 rs373607994 0.000byClusterbyFreq missenseASer [S]191
contig referenceGGly [G]191
156003700457 rs767346728 0.000 missenseGArg [R]293
contig referenceAHis [H]293
156003702459 rs750235505 0.000 missenseGGlu [E]194
contig referenceALys [K]194
156003705462 rs755842998 0.000 missenseCArg [R]195
contig referenceTCys [C]195
156003707464 rs779137566 0.000 synonymousTCys [C]395
contig referenceCCys [C]395
156003708465 rs376030741 N.D. missenseGVal [V]196
contig referenceAIle [I]196
156003712469 rs752868517 0.000 missenseCSer [S]297
contig referenceTLeu [L]297
156003714471 rs758528025 0.000byFreq missenseTTrp [W]198
synonymousAArg [R]198
contig referenceCArg [R]198
156003715472 rs200625949 0.002byCluster missenseAGln [Q]298
contig referenceGArg [R]298
156003716473 rs771480816 0.000byFreq synonymousAArg [R]398
contig referenceGArg [R]398
156003721478 rs3747328 0.008byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0040 missenseCThr [T]2100
contig referenceGSer [S]2100
156003729486 rs746266336 0.001byFreq missenseGAla [A]1103
contig referenceAThr [T]1103
156003730487 rs770230398 0.000 missenseGSer [S]2103
contig referenceCThr [T]2103
156003731488 rs775971815 0.000byFreq synonymousTThr [T]3103
contig referenceCThr [T]3103
156003732489 rs140065784 0.000byCluster missenseAIle [I]1104
contig referenceGVal [V]1104
156003734491 rs768187259 0.000 synonymousTVal [V]3104
contig referenceCVal [V]3104
156003735492 rs778664181 0.000byClusterWith1000GenomeData0.0002 missenseAMet [M]1105
contig referenceGVal [V]1105
156003740497 rs377357847 0.000byClusterWith1000GenomeData0.0002 synonymousALeu [L]3106
contig referenceGLeu [L]3106
156003741498 rs370651992 0.000byClusterWith1000GenomeData0.0002 missenseTSer [S]1107
contig referenceCPro [P]1107
156003757514 rs374563129 0.000byCluster missenseCPro [P]2112
contig referenceTLeu [L]2112
156003758515 rs760486109 0.000byFreq synonymousTLeu [L]3112
contig referenceCLeu [L]3112
156003759516 rs145702080 0.002byClusterbyFreqWith1000GenomeData0.0008 missenseAMet [M]1113
contig referenceGVal [V]1113
156003764521 rs368482231 0.000byClusterbyFreq synonymousGPro [P]3114
contig referenceAPro [P]3114
156003766523 rs746511345 0.000byClusterWith1000GenomeData0.0002 missenseATyr [Y]2115
contig referenceCSer [S]2115
156003768525 rs769137449 0.000byClusterWith1000GenomeData0.0002 missenseAAsn [N]1116
contig referenceGAsp [D]1116
156003776533 rs751662691 0.000 synonymousTPhe [F]3118
contig referenceCPhe [F]3118
156003776533 rs756848000 0.000 frame shift-Leu [L]3118
contig referenceCPhe [F]3118
156003777534 rs757244169 0.000byFreq missenseTSer [S]1119
contig referenceAThr [T]1119
156003778535 rs151115000 0.000 missenseGSer [S]2119
contig referenceCThr [T]2119
156003779536 rs781769128 0.000byFreq synonymousTThr [T]3119
contig referenceCThr [T]3119
156003793550 rs746422017 0.000 missenseCPro [P]2124
contig referenceAHis [H]2124
156003794551 rs781685141 0.000byClusterWith1000GenomeData0.0002 missenseGGln [Q]3124
contig referenceCHis [H]3124
156003795552 rs780628902 0.000 missenseCArg [R]1125
contig referenceTCys [C]1125
156003796553 rs749604950 0.000 missenseATyr [Y]2125
contig referenceGCys [C]2125
156003802559 rs768370885 0.000byFreq missenseTPhe [F]2127
contig referenceCSer [S]2127
156003804561 rs773811613 0.000 missenseAArg [R]1128
contig referenceGGly [G]1128
156003809566 rs761420952 0.000 synonymousAArg [R]3129
contig referenceGArg [R]3129
156003813570 rs771522601 0.000byFreq missenseALys [K]1131
contig referenceCGln [Q]1131
156003814571 rs191763937 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseGArg [R]2131
contig referenceAGln [Q]2131
156003815572 rs760647567 0.000byFreq missenseTHis [H]3131
contig referenceGGln [Q]3131
156003816573 rs766302149 0.000 missenseAIle [I]1132
contig referenceGVal [V]1132
156003822579 rs776497608 0.000byFreq synonymousTLeu [L]1134
contig referenceCLeu [L]1134
156003830587 rs759185252 0.000 synonymousTAsp [D]3136
contig referenceCAsp [D]3136
156003832589 rs764407921 0.000byFreq missenseTLeu [L]2137
contig referenceCPro [P]2137
156003833590 rs751683555 0.000byFreq synonymousAPro [P]3137
contig referenceGPro [P]3137
156003836593 rs371174144 0.000byCluster synonymousAGlu [E]3138
contig referenceGGlu [E]3138
156003840597 rs149867234 0.000byCluster synonymousTLeu [L]1140
contig referenceCLeu [L]1140
156003842599 rs750523998 0.000 synonymousALeu [L]3140
contig referenceGLeu [L]3140
156003843600 rs756740839 0.000byFreq missenseAThr [T]1141
contig referenceCPro [P]1141
156003846603 rs184097294 0.008byClusterbyFreqWith1000GenomeData0.0038 missenseGGly [G]1142
missenseTTrp [W]1142
contig referenceCArg [R]1142
156003849606 rs755261341 0.000 missenseGGly [G]1143
contig referenceAArg [R]1143
156003850607 rs778653836 0.000byFreq missenseALys [K]2143
contig referenceGArg [R]2143
156003854611 rs747804769 0.000 missenseAGln [Q]3144
contig referenceCHis [H]3144
156003855612 rs3747327 0.000byClusterbyFreq YesmissenseAIle [I]1145
contig referenceGVal [V]1145
156004424617 rs766419152 0.000byFreq synonymousALys [K]3146
contig referenceGLys [K]3146
156004428621 rs753927767 0.000 missenseTTyr [Y]1148
contig referenceGAsp [D]1148
156004431624 rs376125399 0.000byClusterbyFreq YesmissenseAThr [T]1149
contig referenceCPro [P]1149
156004432625 rs144954700 0.001byClusterbyFreq YesmissenseTLeu [L]2149
contig referenceCPro [P]2149
156004433626 rs140935809 0.003byClusterbyFreqWith1000GenomeData0.0016 YessynonymousAPro [P]3149
synonymousCPro [P]3149
contig referenceGPro [P]3149
156004434627 rs777422170 0.000 missenseTSer [S]1150
contig referenceCPro [P]1150
156004440633 rs751257162 0.000 missenseAAsn [N]1152
contig referenceGAsp [D]1152
156004445638 rs369685047 0.000byClusterbyFreq YessynonymousALeu [L]3153
contig referenceGLeu [L]3153
156004449642 rs780633265 0.000 missenseTCys [C]1155
contig referenceASer [S]1155
156004451644 rs745368390 0.000 missenseAArg [R]3155
contig referenceCSer [S]3155
156004453646 rs144659666 0.000byClusterWith1000GenomeData0.0002 YesmissenseTIle [I]2156
contig referenceAAsn [N]2156
156004459652 rs779976784 0.000byFreq missenseAAsn [N]2158
contig referenceGSer [S]2158
156004462655 rs749128859 0.000 missenseATyr [Y]2159
contig referenceCSer [S]2159
156004465658 rs768523169 0.000 missenseTVal [V]2160
contig referenceGGly [G]2160
156004466659 rs774266630 0.000 synonymousTGly [G]3160
contig referenceCGly [G]3160
156004469662 rs761023015 0.000 synonymousTHis [H]3161
contig referenceCHis [H]3161
156004471664 rs771184258 0.000 missenseATyr [Y]2162
contig referenceGCys [C]2162
156004472665 rs765274133 0.000byClusterWith1000GenomeData0.0002 synonymousTCys [C]3162
contig referenceCCys [C]3162
156004475668 rs759605980 0.000 synonymousTIle [I]3163
contig referenceCIle [I]3163
156004482675 rs202242862 0.000byClusterWith1000GenomeData0.0002 YesmissenseCArg [R]1166
contig referenceTTrp [W]1166
156004482675 rs750213501 0.000 frame shift-Gln [Q]1168
contig reference(19bp)Ile [I]1168
156004484677 rs765691673 0.000 missenseCCys [C]3166
contig referenceGTrp [W]3166
156004486679 rs753150697 0.000byFreq missenseAAsn [N]2167
contig referenceGSer [S]2167
156004494687 rs763423994 0.000byFreq missenseAThr [T]1170
missenseTSer [S]1170
contig referenceCPro [P]1170
156004498691 rs751915848 0.000 missenseAAsp [D]2171
contig referenceCAla [A]2171
156004503696 rs756917195 0.000 missenseALys [K]1173
contig referenceGGlu [E]1173
156004507700 rs138713294 0.000byCluster YesmissenseAGln [Q]2174
contig referenceCPro [P]2174
156004509702 rs756154477 0.000 frame shift-Asp [D]1175
contig referenceATMet [M]1175
156004514707 rs140339982 0.000byCluster YessynonymousTThr [T]3176
contig referenceCThr [T]3176
156004515708 rs755612166 0.000 missenseCPro [P]1177
contig referenceAThr [T]1177
156004521714 rs372398946 0.000byCluster YesmissenseGVal [V]1179
contig referenceCLeu [L]1179
156004523716 rs749288081 0.000 synonymousTLeu [L]3179
contig referenceCLeu [L]3179
156004531724 rs754934727 0.000 missenseGGly [G]2182
contig referenceAGlu [E]2182
156004532725 rs778922150 0.000 missenseTAsp [D]3182
contig referenceGGlu [E]3182
156004537730 rs762681741 0.000byClusterWith1000GenomeData0.0002 missenseGGly [G]2184
contig referenceCAla [A]2184
156004541734 rs771073752 0.000 synonymousTPhe [F]3185
contig referenceCPhe [F]3185
156004543736 rs143605658 0.000 YesmissenseGArg [R]2186
contig referenceALys [K]2186
156004545738 rs776871085 0.000byFreq missenseGGlu [E]1187
contig referenceALys [K]1187
156004547740 rs745954607 0.000 missenseTAsn [N]3187
contig referenceGLys [K]3187
156004548741 rs769962114 0.000 nonsenseT1188
contig referenceCGln [Q]1188
156004556749 rs775512588 0.000 missenseCAsp [D]3190
contig referenceGGlu [E]3190
156004557750 rs763517971 0.000 missenseAThr [T]1191
contig referenceGAla [A]1191
156004558751 rs764570508 0.000byFreq missenseGGly [G]2191
missenseTVal [V]2191
contig referenceCAla [A]2191
156004559752 rs148050525 0.029byClusterbyFreqWith1000GenomeData0.0148 YessynonymousTAla [A]3191
contig referenceCAla [A]3191
156004565758 rs767109432 0.000byFreq synonymousAGlu [E]3193
contig referenceGGlu [E]3193
156005280761 rs765284632 0.000 synonymousAGln [Q]3194
contig referenceGGln [Q]3194
156005282763 rs141849405 0.000byCluster YesmissenseTVal [V]2195
contig referenceCAla [A]2195
156005294775 rs758233292 0.000 missenseTVal [V]2199
contig referenceAAsp [D]2199
156005297778 rs370902867 0.000byClusterbyFreq YesmissenseGArg [R]2200
contig referenceAHis [H]2200
156005300781 rs777707557 0.000 frame shift-Met [M]2201
contig referenceTIle [I]2201
156005304785 rs375236599 0.000byClusterbyFreq YessynonymousAVal [V]3202
synonymousTVal [V]3202
contig referenceCVal [V]3202
156005305786 rs200979341 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAArg [R]1203
missenseTTrp [W]1203
contig referenceGGly [G]1203
156005308789 rs768675056 0.000 missenseTLeu [L]1204
contig referenceGVal [V]1204
156005317798 rs778837263 0.000byFreq missenseGVal [V]1207
contig referenceCLeu [L]1207
156005323804 rs748730144 0.000byFreq missenseTPhe [F]1209
contig referenceCLeu [L]1209
156005325806 rs749170289 0.000byClusterWith1000GenomeData0.0002 synonymousCLeu [L]3209
contig referenceTLeu [L]3209
156005326807 rs773689064 0.000 missenseCGln [Q]1210
contig referenceGGlu [E]1210
156005330811 rs770967862 0.000byClusterWith1000GenomeData0.0002 missenseTVal [V]2211
contig referenceCAla [A]2211
156005331812 rs770714850 0.000 synonymousTAla [A]3211
contig referenceCAla [A]3211
156005341822 rs539819594 0.000byClusterbyFreq missenseAAsn [N]1215
contig referenceGAsp [D]1215
156005343824 rs759239541 0.000 synonymousTAsp [D]3215
contig referenceCAsp [D]3215
156005344825 rs764877593 0.000byFreq missenseAThr [T]1216
missenseGAla [A]1216
contig referenceCPro [P]1216
156005348829 rs763002562 0.000 missenseTVal [V]2217
contig referenceGGly [G]2217
156005349830 rs150608249 0.109byClusterbyFreqWith1000GenomeData0.0577 YessynonymousTGly [G]3217
contig referenceCGly [G]3217
156005352833 rs139010711 0.001byClusterbyFreq YessynonymousCPhe [F]3218
contig referenceTPhe [F]3218
156005355836 rs757003765 0.000 synonymousTIle [I]3219
contig referenceCIle [I]3219
156005356837 rs780276371 0.000 missenseGAsp [D]1220
contig referenceCHis [H]1220
156005359840 rs754110189 0.000 missenseALys [K]1221
contig referenceGGlu [E]1221
156005362843 rs755162742 0.000 missenseAThr [T]1222
contig referenceGAla [A]1222
156005363844 rs143145062 0.000byClusterWith1000GenomeData0.0002 YesmissenseTVal [V]2222
contig referenceCAla [A]2222
156005365846 rs748164636 0.000 missenseGGly [G]1223
contig referenceAArg [R]1223
156005367848 rs147480223 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAArg [R]3223
contig referenceGArg [R]3223
156005371852 rs140130676 0.002byClusterbyFreqWith1000GenomeData0.0008 YesmissenseASer [S]1225
missenseTCys [C]1225
contig referenceCArg [R]1225
156005372853 rs150023440 0.000byCluster YesmissenseAHis [H]2225
contig referenceGArg [R]2225
156005374855 rs777102000 0.000 missenseAIle [I]1226
contig referenceGVal [V]1226
156005375856 rs759325473 0.000 missenseCAla [A]2226
contig referenceTVal [V]2226
156005376857 rs144396345 0.001byClusterbyFreq YessynonymousGVal [V]3226
contig referenceCVal [V]3226
156005377858 rs775079091 0.000byFreq nonsenseT1227
missenseALys [K]1227
contig referenceCGln [Q]1227
156005378859 rs764121813 N.D. missenseGArg [R]2227
contig referenceAGln [Q]2227
156005379860 rs747309891 N.D. frame shift-Trp [W]3229
contig reference(19bp)Ala [A]3229
156005383864 rs376156495 0.000byCluster YesmissenseAThr [T]1229
contig referenceGAla [A]1229
156005384865 rs761718440 0.000 missenseTVal [V]2229
contig referenceCAla [A]2229
156005385866 rs767343032 0.000 synonymousTAla [A]3229
contig referenceCAla [A]3229
156005386867 rs202105500 0.000byClusterWith1000GenomeData0.0002 YesmissenseCPro [P]1230
contig referenceAThr [T]1230
156005389870 rs535423846 0.000byCluster missenseAMet [M]1231
synonymousTLeu [L]1231
contig referenceCLeu [L]1231
156005394875 rs755252410 0.000 synonymousAGlu [E]3232
contig referenceGGlu [E]3232
156005395876 rs150946462 0.002byClusterbyFreqWith1000GenomeData YesmissenseAAsn [N]1233
contig referenceGAsp [D]1233
156005397878 rs752831262 0.000byFreq missenseAGlu [E]3233
contig referenceTAsp [D]3233
156005403884 rs758372195 0.000 synonymousCVal [V]3235
contig referenceGVal [V]3235
156005413894 rs6522 0.013byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0068 YesmissenseCGln [Q]1239
contig referenceGGlu [E]1239
156005417898 rs753442441 0.000byClusterWith1000GenomeData0.0002 missenseAHis [H]2240
contig referenceGArg [R]2240
156005421902 rs150940604 0.000byCluster YessynonymousCTyr [Y]3241
contig referenceTTyr [Y]3241
156005423904 rs781726149 0.000 missenseTIle [I]2242
contig referenceCThr [T]2242
156005432913 rs746173859 0.000 nonsenseA2245
contig referenceGTrp [W]2245
156005436917 rs769490928 0.000 missenseAArg [R]3246
contig referenceTSer [S]3246
156005439920 rs774965233 0.000 synonymousAGlu [E]3247
contig referenceGGlu [E]3247
156005441922 rs748850630 0.000 nonsenseA2248
contig referenceGTrp [W]2248
156005442923 rs768099292 0.000 missenseCCys [C]3248
contig referenceGTrp [W]3248
156005444925 rs773820783 0.000 missenseAAsn [N]2249
contig referenceGSer [S]2249
156005445926 rs761808322 0.000byFreq missenseAArg [R]3249
synonymousTSer [S]3249
contig referenceCSer [S]3249
156005449930 rs762218364 0.000byClusterWith1000GenomeData0.0002 missenseAThr [T]1251
missenseGAla [A]1251
contig referenceCPro [P]1251
156005450931 rs765531293 0.000 missenseTLeu [L]2251
contig referenceCPro [P]2251
156005452933 rs752816386 0.000 missenseCLeu [L]1252
contig referenceGVal [V]1252
156005457938 rs758627215 0.000byFreq nonsenseA3253
synonymousTCys [C]3253
contig referenceCCys [C]3253
156005460941 rs371057928 0.000byClusterbyFreq YesmissenseALeu [L]3254
synonymousTPhe [F]3254
contig referenceCPhe [F]3254
156005462943 rs781736525 0.000 missenseGArg [R]2255
contig referenceAGln [Q]2255
156005466947 rs746266343 0.000 synonymousCAla [A]3256
contig referenceTAla [A]3256
156005467948 rs756382464 0.000 missenseTSer [S]1257
contig referenceCPro [P]1257
156005468949 rs780443490 0.000 missenseTLeu [L]2257
contig referenceCPro [P]2257
156005475956 rs748935258 0.000byFreq synonymousGArg [R]3259
contig referenceAArg [R]3259
156005477958 rs189761597 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2260
contig referenceAGln [Q]2260
156006083961 rs750513384 0.000 missenseAAsp [D]2261
contig referenceGGly [G]2261
156006084962 rs761145382 0.000 synonymousTGly [G]3261
contig referenceCGly [G]3261
156006086964 rs766851628 0.000 missenseTLeu [L]2262
contig referenceCPro [P]2262
156006089967 rs140792404 0.002byClusterbyFreqWith1000GenomeData0.0012 missenseCPro [P]2263
contig referenceTLeu [L]2263
156006095973 rs755299439 0.000 missenseTLeu [L]2265
contig referenceCPro [P]2265
156006098976 rs778562779 0.000byFreq missenseTLeu [L]2266
contig referenceCPro [P]2266
156006099977 rs752400466 0.000byFreq synonymousTPro [P]3266
contig referenceCPro [P]3266
156006115993 rs766998145 0.000byClusterWith1000GenomeData0.0002 missenseCHis [H]1272
missenseGAsp [D]1272
contig referenceAAsn [N]1272
156006120998 rs368064110 0.000byClusterbyFreq synonymousTThr [T]3273
contig referenceCThr [T]3273
156006121999 rs143319693 0.023byClusterbyFreqWith1000GenomeData0.0114 missenseTPhe [F]1274
contig referenceCLeu [L]1274
1560061241002 rs146681565 0.000byCluster missenseAIle [I]1275
contig referenceGVal [V]1275
1560061321010 rs745671500 0.000byFreq synonymousAVal [V]3277
contig referenceGVal [V]3277
1560061351013 rs759967218 0.002byClusterbyFreqWith1000GenomeData0.0008 synonymousTSer [S]3278
contig referenceCSer [S]3278
1560061361014 rs775393655 0.000 missenseGVal [V]1279
contig referenceAIle [I]1279
1560061381016 rs150341783 0.000byCluster missenseGMet [M]3279
synonymousTIle [I]3279
contig referenceCIle [I]3279
1560061431021 rs773179155 0.000 missenseCPro [P]2281
contig referenceTLeu [L]2281
1560061511029 rs760743179 0.000 missenseTSer [S]1284
contig referenceAThr [T]1284
1560061521030 rs766827621 0.000byFreq missenseAAsn [N]2284
missenseTIle [I]2284
contig referenceCThr [T]2284
1560061581036 rs145116573 0.004byClusterbyFreqWith1000GenomeData0.0018 missenseTLeu [L]2286
contig referenceCPro [P]2286
1560061591037 rs371627959 0.000byClusterbyFreq synonymousAPro [P]3286
contig referenceGPro [P]3286
1560061641042 rs149119910 0.009byClusterbyFreq missenseGCys [C]2288
contig referenceATyr [Y]2288
1560061651043 rs758056200 0.001byFreq synonymousTTyr [Y]3288
contig referenceCTyr [Y]3288
1560061681046 rs143176678 0.028byClusterbyFreqWith1000GenomeData0.0140 synonymousALeu [L]3289
contig referenceCLeu [L]3289
1560061691047 rs751059760 0.000 synonymousTLeu [L]1290
contig referenceCLeu [L]1290
1560061721050 rs377090049 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseCLeu [L]1291
contig referenceTPhe [F]1291
1560061751053 rs780543499 0.000 nonsenseT1292
contig referenceALys [K]1292
1560061771055 rs745840420 0.000 synonymousALys [K]3292
contig referenceGLys [K]3292
1560061801058 rs756115546 0.000 synonymousALeu [L]3293
contig referenceGLeu [L]3293
1560061821060 rs139076080 0.002byClusterbyFreqWith1000GenomeData0.0012 missenseTLeu [L]2294
contig referenceCSer [S]2294
1560061831061 rs142994195 0.006byClusterbyFreq synonymousASer [S]3294
contig referenceGSer [S]3294
1560061841062 rs772430500 0.000 missenseTSer [S]1295
contig referenceCPro [P]1295
1560061851063 rs773445862 0.000 missenseTLeu [L]2295
contig referenceCPro [P]2295
1560061861064 rs753981177 0.000byClusterWith1000GenomeData0.0002 synonymousAPro [P]3295
contig referenceCPro [P]3295
1560061871065 rs771094456 0.000byFreq synonymousCArg [R]1296
contig referenceAArg [R]1296
1560061881066 rs776546795 0.000 missenseALys [K]2296
contig referenceGArg [R]2296
1560075241068 rs755548460 0.000byClusterWith1000GenomeData0.0002 missenseAMet [M]1297
contig referenceGVal [V]1297
1560075261070 rs147062519 0.003byClusterbyFreq synonymousAVal [V]3297
contig referenceGVal [V]3297
1560075311075 rs749870825 0.000 missenseTIle [I]2299
contig referenceGArg [R]2299
1560075321076 rs769029685 0.000 synonymousGArg [R]3299
contig referenceAArg [R]3299
1560075371081 rs774791066 0.000 missenseATyr [Y]2301
contig referenceTPhe [F]2301
1560075401084 rs762018063 0.000 missenseTPhe [F]2302
contig referenceATyr [Y]2302
1560075411085 rs771789159 0.000 nonsenseA3302
contig referenceCTyr [Y]3302
1560075471091 rs138354717 0.001byClusterbyFreq synonymousTAsn [N]3304
contig referenceCAsn [N]3304
1560075481092 rs201085879 0.002byCluster missenseAMet [M]1305
missenseCLeu [L]1305
contig referenceGVal [V]1305
1560075521096 rs753396204 0.000 missenseTLeu [L]2306
contig referenceCPro [P]2306
1560075571101 rs759579800 0.000 missenseTSer [S]1308
contig referenceCPro [P]1308
1560075611105 rs765030133 0.000byFreq missenseAGlu [E]2309
contig referenceCAla [A]2309
1560075621106 rs752565372 0.000byFreq synonymousAAla [A]3309
synonymousTAla [A]3309
contig referenceGAla [A]3309
1560075751119 rs369068270 0.001byClusterbyFreq missenseTSer [S]1314
contig referenceCPro [P]1314
1560075761120 rs750681837 0.000byFreq missenseTLeu [L]2314
contig referenceCPro [P]2314
1560075781122 rs373025995 0.000byClusterbyFreq missenseTPhe [F]1315
contig referenceCLeu [L]1315
1560075831127 rs780165240 0.000byFreq nonsenseG3316
synonymousTTyr [Y]3316
contig referenceCTyr [Y]3316
1560075911135 rs769210981 0.000 missenseGArg [R]2319
contig referenceAHis [H]2319
1560076021146 rs779248461 0.000byFreq missenseCLeu [L]1323
contig referenceTPhe [F]1323
1560076051149 rs376058918 0.000byClusterbyFreq missenseGGlu [E]1324
contig referenceCGln [Q]1324
1560098331169 rs769779923 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousTHis [H]3330
contig referenceCHis [H]3330
1560098341170 rs142104921 0.074byClusterbyFreqWith1000GenomeData0.0385 missenseAArg [R]1331
contig referenceGGly [G]1331
1560098351171 rs377475319 0.000byClusterbyFreq missenseAGlu [E]2331
contig referenceGGly [G]2331
1560098371173 rs779716863 0.000 missenseAThr [T]1332
contig referenceGAla [A]1332
1560098391175 rs185762509 0.004byClusterbyFreqWith1000GenomeData0.0020 synonymousTAla [A]3332
contig referenceCAla [A]3332
1560098401176 rs768204373 0.000byFreq missenseASer [S]1333
contig referenceGGly [G]1333
1560098411177 rs201133561 0.004byClusterbyFreq missenseAAsp [D]2333
missenseTVal [V]2333
contig referenceGGly [G]2333
1560098461182 rs374423429 0.000byClusterbyFreq synonymousTLeu [L]1335
contig referenceCLeu [L]1335
1560098491185 rs772034930 0.000 synonymousCLeu [L]1336
contig referenceTLeu [L]1336
1560098511187 rs772899734 0.000 missenseTPhe [F]3336
contig referenceGLeu [L]3336
1560098611197 rs760455819 0.000 missenseASer [S]1340
contig referenceTCys [C]1340
1560098641200 rs769944744 0.000byFreq missenseAThr [T]1341
contig referenceGAla [A]1341
1560098731209 rs367560469 0.000byCluster missenseTSer [S]1344
contig referenceCPro [P]1344
1560098761212 rs763233043 0.000byFreq nonsenseT1345
contig referenceCGln [Q]1345
1560098781214 rs764333689 0.004byFreq synonymousAGln [Q]3345
contig referenceGGln [Q]3345
1560098851221 rs751673893 0.000byFreq missenseAMet [M]1348
contig referenceTLeu [L]1348
1560098961232 rs139866056 0.001byCluster missenseGTrp [W]3351
synonymousTCys [C]3351
contig referenceCCys [C]3351
1560098971233 rs370767665 0.000byClusterbyFreq missenseAIle [I]1352
contig referenceGVal [V]1352
1560099061242 rs756451413 0.000 missenseCPro [P]1355
contig referenceGAla [A]1355
1560099071243 rs780259444 0.000byFreq missenseAAsp [D]2355
contig referenceCAla [A]2355
1560099101246 rs753529526 0.000byFreq missenseTIle [I]2356
contig referenceCThr [T]2356
1560099121248 rs754622055 0.000 missenseTSer [S]1357
contig referenceGAla [A]1357
1560099131249 rs778454477 0.000 missenseAGlu [E]2357
contig referenceCAla [A]2357
1560099161252 rs747602154 0.000 missenseGArg [R]2358
contig referenceTLeu [L]2358
1560099171253 rs758276005 0.000byFreq synonymousALeu [L]3358
contig referenceGLeu [L]3358
1560099201256 rs777728993 0.000 synonymousTLeu [L]3359
contig referenceCLeu [L]3359
1560099231259 rs746807434 0.000byFreq synonymousCThr [T]3360
contig referenceTThr [T]3360
1560099281264 rs770796046 0.000byFreq missenseTVal [V]2362
contig referenceGGly [G]2362
1560099341270 rs375230853 0.000byClusterbyFreq missenseAGlu [E]2364
missenseTVal [V]2364
contig referenceCAla [A]2364
1560099351271 rs191503376 0.000byClusterWith1000GenomeData0.0002 synonymousAAla [A]3364
contig referenceGAla [A]3364
1560099361272 rs768939941 0.000byFreq missenseTCys [C]1365
contig referenceCArg [R]1365
1560099371273 rs147385831 0.010byClusterbyFreqWith1000GenomeData missenseAHis [H]2365
contig referenceGArg [R]2365
1560099431279 rs761911390 0.000 missenseCSer [S]2367
contig referenceGTrp [W]2367
1560099471283 rs767931784 0.000byFreq synonymousGLys [K]3368
contig referenceALys [K]3368
1560099551291 rs149441902 0.006byClusterbyFreqWith1000GenomeData0.0032 missenseAAsp [D]2371
missenseGGly [G]2371
contig referenceCAla [A]2371
1560099601296 rs766797448 0.000 missenseALys [K]1373
contig referenceGGlu [E]1373
1560099621298 rs754196110 0.000 synonymousAGlu [E]3373
contig referenceGGlu [E]3373
1560099681304 rs754627874 0.000 synonymousGGlu [E]3375
contig referenceAGlu [E]3375
1560099691305 rs764809633 0.000byFreq missenseALys [K]1376
missenseGGlu [E]1376
contig referenceCGln [Q]1376
1560099741310 rs146393382 0.017byClusterbyFreqWith1000GenomeData0.0088 synonymousAGlu [E]3377
contig referenceGGlu [E]3377
1560099771313 rs777129859 0.000byFreq synonymousAGly [G]3378
contig referenceCGly [G]3378
1560099781314 rs747029804 0.000byFreq missenseGAla [A]1379
missenseTSer [S]1379
contig referenceCPro [P]1379
1560099801316 rs781141724 0.000byFreq synonymousGPro [P]3379
contig referenceTPro [P]3379
1560099941330 rs745603153 0.000byFreq missenseTLeu [L]2384
contig referenceCPro [P]2384
1560099951331 rs368388626 0.000byClusterWith1000GenomeData0.0002 synonymousAPro [P]3384
contig referenceGPro [P]3384
1560100061342 rs774675655 0.000 missenseAAsn [N]2388
contig referenceGSer [S]2388
1560100121348 rs139815305 0.012byClusterbyFreqWith1000GenomeData0.0060 missenseTVal [V]2390
contig referenceAGlu [E]2390
1560100131349 rs372310092 0.000byClusterbyFreq synonymousAGlu [E]3390
contig referenceGGlu [E]3390
1560100141350 rs773150888 0.000 missenseAAsn [N]1391
contig referenceGAsp [D]1391
1560100171353 rs143124772 0.001byCluster missenseAMet [M]1392
contig referenceGVal [V]1392
1560100181354 rs146700454 0.002byClusterbyFreqWith1000GenomeData0.0008 missenseCAla [A]2392
contig referenceTVal [V]2392
1560100311367 rs200163032 0.002byCluster synonymousCGly [G]3396
synonymousTGly [G]3396
contig referenceGGly [G]3396
1560100341370 rs759842159 0.000 synonymousCCys [C]3397
contig referenceTCys [C]3397
1560100351371 rs764897491 0.000byFreq missenseGAla [A]1398
contig referenceAThr [T]1398
1560100361372 rs752430594 0.000byFreq missenseTMet [M]2398
contig referenceCThr [T]2398
1560100371373 rs757977708 0.000byFreq synonymousAThr [T]3398
contig referenceGThr [T]3398
1560100381374 rs201193490 0.002byCluster nonsenseT1399
missenseCGln [Q]1399
contig referenceGGlu [E]1399
1560100441380 rs757276119 0.000 missenseGGly [G]1401
contig referenceAArg [R]1401
1560100541390 rs764674618 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseGArg [R]2404
missenseTMet [M]2404
contig referenceCThr [T]2404
1560100551391 rs756014316 0.000byFreq synonymousAThr [T]3404
synonymousCThr [T]3404
contig referenceGThr [T]3404
1560100651401 rs748460240 0.000byFreq synonymousTLeu [L]1408
contig referenceCLeu [L]1408
1560100661402 rs772179110 0.000 missenseCPro [P]2408
contig referenceTLeu [L]2408
1560100701406 rs777911679 0.000 synonymousGPro [P]3409
contig referenceAPro [P]3409
1560100731409 rs747001583 0.000 synonymousAGln [Q]3410
contig referenceGGln [Q]3410
1560100821418 rs771447124 0.000 nonsenseA3413
contig referenceGTrp [W]3413
1560100841420 rs777080052 0.000byFreq missenseAAsp [D]2414
contig referenceCAla [A]2414
1560100861422 rs760001597 0.000 missenseTSer [S]1415
contig referenceCPro [P]1415
1560100891425 rs767239571 0.000 frame shiftTIle [I]1416
contig reference-Thr [T]1416
1560100901426 rs750268605 N.D. frame shiftTVal [V]2417
contig reference-Ser [S]2417
1560100901426 rs770206321 N.D. missenseTMet [M]2416
contig referenceCThr [T]2416
1560100911427 rs775717769 0.000byFreq synonymousAThr [T]3416
contig referenceGThr [T]3416
1560100921428 rs760493160 N.D. frame shiftGCCys [C]1417
contig reference-Ser [S]1417
1560100921428 rs762675069 N.D. missenseCPro [P]1417
contig referenceTSer [S]1417
1560100961432 rs766427932 0.000byFreq frame shift-His [H]2418
contig referenceTGLeu [L]2418
1560100991435 rs753876854 0.000byFreq frame shift-Ile [I]2419
contig referenceCThr [T]2419
1560101001436 rs763598277 0.000byFreq synonymousCThr [T]3419
contig referenceTThr [T]3419
1560101041440 rs751104346 0.000byFreq missenseTSer [S]1421
contig referenceCPro [P]1421
1560101051441 rs368880201 0.001byClusterbyFreq missenseTLeu [L]2421
contig referenceCPro [P]2421
1560101061442 rs148422562 0.002byClusterbyFreq synonymousAPro [P]3421
synonymousCPro [P]3421
contig referenceGPro [P]3421
1560101131449 rs756107393 0.000byFreq missenseGAla [A]1424
contig referenceCPro [P]1424
1560101201456 rs779966213 0.000byFreq nonsenseG2426
contig referenceCSer [S]2426
1560101221458 rs753509304 0.000 missenseALys [K]1427
contig referenceGGlu [E]1427
1560101241460 rs754853520 0.000 frame shift-Ala [A]3428
contig referenceGGly [G]3428
1560101301466 rs758657924 0.000 missenseGArg [R]3429
contig referenceCSer [S]3429
1560101331469 rs771643360 N.D.byCluster AGCSer [S]3438
AGCAGC [SS]3438
1560101331469 rs777806169 N.D. synonymousAArg [R]3430
contig referenceGArg [R]3430
1560101341470 rs746244923 N.D. -1436
1560101341470 rs747119563 0.000 missenseGGly [G]1431
contig referenceASer [S]1431
1560101341470 rs754099000 0.133byClusterbyFreqWith1000GenomeData0.0719 -1438
1560101341470 rs757499975 N.D. -1437
1560101391475 rs771036073 0.000byFreq missenseGArg [R]3432
contig referenceCSer [S]3432
1560101531489 rs781223342 0.000byFreq missenseAAsn [N]2437
contig referenceGSer [S]2437
1560101541490 rs150992174 0.002byClusterbyFreqWith1000GenomeData0.0012 synonymousTSer [S]3437
contig referenceCSer [S]3437
1560101561492 rs140822242 0.020byClusterbyFreq missenseAAsn [N]2438
contig referenceGSer [S]2438
1560101561492 rs770077349 N.D. frame shiftGCArg [R]2438
CAAAsn [N]2442
contig reference-Ser [S]2438
1560101561492 rs796673727 N.D. frame shift-Lys [K]2438
contig referenceGCSer [S]2438
1560101571493 rs749850597 N.D. -3442
1560101571493 rs780269555 N.D. -3441
1560101591495 rs200413398 0.244byClusterbyFreqWith1000GenomeData0.1420 missenseGSer [S]2439
contig referenceAAsn [N]2439
1560101621498 rs150178903 0.187byClusterbyFreqWith1000GenomeData0.1044 missenseGSer [S]2440
contig referenceAAsn [N]2440
1560101651501 rs763181492 0.000byFreq missenseGSer [S]2441
contig referenceAAsn [N]2441
1560101701506 rs768389041 0.000 missenseCHis [H]1443
contig referenceTTyr [Y]1443
1560101741510 rs773917568 0.000 missenseCSer [S]2444
contig referenceGCys [C]2444
1560101891525 rs761536180 0.000 missenseTPhe [F]2449
contig referenceATyr [Y]2449
1560101911527 rs767194530 0.000byFreq missenseTTrp [W]1450
contig referenceGGly [G]1450
1560101921528 rs772844907 0.000byFreq missenseTVal [V]2450
contig referenceGGly [G]2450
1560102031539 rs760692586 0.000 missenseTPhe [F]1454
contig referenceCLeu [L]1454
1560102141550 rs766168873 0.000 synonymousGLeu [L]3457
contig referenceCLeu [L]3457
1560102341570 rs753687545 0.000 missenseATyr [Y]2464
contig referenceCSer [S]2464
1560102391575 rs754685883 0.000 missenseTSer [S]1466
contig referenceCPro [P]1466
1560102671603 rs765046860 0.000 missenseGCys [C]2475
contig referenceCSer [S]2475
1560103061642 rs751823844 0.000byFreq missenseTVal [V]2488
contig referenceCAla [A]2488
1560103461682 rs757471020 0.000 missenseAGln [Q]3501
contig referenceTHis [H]3501
1560103901726 rs781258053 0.002byFreq missenseGGly [G]2516
contig referenceCAla [A]2516
1560103921728 rs745893762 0.000 missenseTTrp [W]1517
contig referenceCArg [R]1517

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