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dbSNP

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SNP linked to Gene (geneID:5580) 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): 7
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_006254.3plus strandNP_006245.2forwardNT_022517.19GRCh38.p7<- currently shown
XM_017006856.1plus strandXP_016862345.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_017006855.1plus strandXP_016862344.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_006713259.2plus strandXP_006713322.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
XM_006713257.3plus strandXP_006713320.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
NM_212539.1plus strandNP_997704.1forwardNT_022517.19GRCh38.p7View snp on GeneModel
NM_001316327.1plus strandNP_001303256.1forwardNT_022517.19GRCh38.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_022517.19NM_006254.3NP_006245.2forwardplus strand332, 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
53178427358 rs781958692 0.000 missenseTVal [V]22
contig referenceCAla [A]22
53178429360 rs76625562 N.D. missenseTSer [S]13
contig referenceCPro [P]13
53178434365 rs782095341 0.000 missenseGLeu [L]34
contig referenceCPhe [F]34
53178441372 rs527932132 0.000With1000GenomeData0.0002 missenseCLeu [L]17
contig referenceAIle [I]17
53178443374 rs373946656 0.000byClusterbyFreq synonymousTIle [I]37
contig referenceCIle [I]37
53178444375 rs368029897 0.000byCluster missenseAThr [T]18
contig referenceGAla [A]18
53178447378 rs782810196 0.000 missenseCLeu [L]19
contig referenceTPhe [F]19
53178450381 rs901852156 N.D. missenseTTyr [Y]110
contig referenceAAsn [N]110
53178457388 rs781788859 0.000byFreq missenseGCys [C]212
contig referenceATyr [Y]212
53178466397 rs369358922 0.000byClusterbyFreq missenseCAla [A]215
contig referenceGGly [G]215
53178467398 rs782716784 0.000 synonymousAGly [G]315
contig referenceCGly [G]315
53178479410 rs377115507 0.000byClusterbyFreq synonymousTAla [A]319
contig referenceCAla [A]319
53178480411 rs782488734 0.000 missenseALys [K]120
contig referenceGGlu [E]120
53178485416 rs369037399 0.000byClusterbyFreq synonymousTAsp [D]321
contig referenceCAsp [D]321
53178489420 rs782302325 0.000 missenseAThr [T]123
contig referenceGAla [A]123
53178490421 rs144572650 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseTVal [V]223
contig referenceCAla [A]223
53178491422 rs782592704 0.000 synonymousAAla [A]323
contig referenceGAla [A]323
53178494425 rs782209905 0.000byFreq missenseALys [K]324
contig referenceCAsn [N]324
53178509440 rs782362492 0.000byFreq synonymousTAla [A]329
contig referenceCAla [A]329
53178516447 rs781984752 0.000byFreq missenseGVal [V]132
contig referenceAMet [M]132
53178526457 rs782070830 N.D. missenseTVal [V]235
contig referenceCAla [A]235
53178527458 rs141615361 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAAla [A]335
contig referenceGAla [A]335
53178531462 rs782400893 0.000byFreq missenseGGly [G]137
contig referenceASer [S]137
53178536467 rs782036073 0.000byFreq synonymousGThr [T]338
contig referenceAThr [T]338
53179579471 rs771826283 N.D. missenseTCys [C]140
contig referenceCArg [R]140
53179580472 rs376358631 0.000byClusterbyFreq missenseAHis [H]240
contig referenceGArg [R]240
53179598490 rs79959723 N.D.byCluster missenseGArg [R]246
contig referenceAGln [Q]246
53179607499 rs1053431163 N.D. missenseTLeu [L]249
contig referenceCPro [P]249
53179608500 rs782493646 N.D. synonymousAPro [P]349
contig referenceGPro [P]349
53179616508 rs782360444 0.000 missenseGCys [C]252
contig referenceATyr [Y]252
53179620512 rs782643942 0.000 synonymousAPro [P]353
contig referenceTPro [P]353
53179631523 rs913175157 N.D. missenseTLeu [L]257
contig referenceCSer [S]257
53179632524 rs782264326 0.000 synonymousASer [S]357
contig referenceGSer [S]357
53179635527 rs55719519 0.000byClusterbyFreq synonymousAThr [T]358
contig referenceGThr [T]358
53179638530 rs369306770 0.000byClusterbyFreq synonymousTPhe [F]359
contig referenceCPhe [F]359
53179641533 rs2230493 0.223byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData0.0819 synonymousCAsp [D]360
synonymousCAsp [D]360
synonymousCAsp [D]360
contig referenceTAsp [D]360
contig referenceTAsp [D]360
contig referenceTAsp [D]360
53179644536 rs145203229 0.000byClusterbyFreq synonymousTAla [A]361
contig referenceCAla [A]361
53179653545 rs373034483 0.000byCluster synonymousCTyr [Y]364
contig referenceTTyr [Y]364
53179662554 rs188610371 0.000byClusterWith1000GenomeData0.0002 synonymousTArg [R]367
contig referenceCArg [R]367
53179663555 rs781950537 0.000byFreq missenseAIle [I]168
contig referenceGVal [V]168
53179667559 rs112659981 N.D. missenseCThr [T]269
contig referenceTIle [I]269
53179672564 rs782095882 0.000 missenseGVal [V]171
contig referenceAIle [I]171
53179675567 rs151061939 0.004byClusterbyFreqWith1000GenomeData0.0036 missenseCLeu [L]172
contig referenceGVal [V]172
53179678570 rs782144950 0.000 synonymousTLeu [L]173
contig referenceCLeu [L]173
53179685577 rs782808010 0.000 missenseAGln [Q]275
contig referenceGArg [R]275
53179686578 rs781815061 0.000 synonymousCArg [R]375
contig referenceGArg [R]375
53179694586 rs782480211 0.000byFreq missenseGGly [G]278
contig referenceAGlu [E]278
53179695587 rs782767295 0.000 synonymousAGlu [E]378
contig referenceGGlu [E]378
53179701593 rs781855123 0.000byFreq synonymousGPro [P]380
contig referenceAPro [P]380
53179704596 rs782530190 0.000byFreq synonymousCVal [V]381
contig referenceGVal [V]381
53179716608 rs782661116 0.000 synonymousTThr [T]385
contig referenceCThr [T]385
53179717609 rs782298081 0.000byClusterbyFreq missenseAMet [M]186
contig referenceGVal [V]186
53179725617 rs782433548 0.000byFreq synonymousTVal [V]388
contig referenceGVal [V]388
53179727619 rs782581303 0.000byFreq missenseTLeu [L]289
contig referenceCSer [S]289
53179728620 rs782214291 0.000byCluster synonymousASer [S]389
contig referenceGSer [S]389
53179729621 rs1015113720 N.D. missenseAMet [M]190
contig referenceGVal [V]190
53179732624 rs79725471 N.D.byCluster missenseGVal [V]191
contig referenceCLeu [L]191
53179737629 rs782352450 0.000byFreq synonymousTAla [A]392
contig referenceCAla [A]392
53179738630 rs781980599 0.000 missenseALys [K]193
contig referenceGGlu [E]193
53179741633 rs963574725 N.D. missenseASer [S]194
contig referenceCArg [R]194
53179742634 rs782250947 0.000byCluster missenseAHis [H]294
contig referenceGArg [R]294
53179754646 rs782413622 0.000 missenseGSer [S]298
contig referenceAAsn [N]298
53179757649 rs782031827 0.000 missenseGSer [S]299
contig referenceAAsn [N]299
53179758650 rs561142814 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]399
contig referenceTAsn [N]399
53179761653 rs782734100 0.000byCluster synonymousAGly [G]3100
contig referenceCGly [G]3100
53179762654 rs781979810 0.000 missenseCGln [Q]1101
contig referenceALys [K]1101
53181239701 rs374573652 0.000byCluster missenseAIle [I]3116
contig referenceGMet [M]3116
53181251713 rs782114906 0.000 synonymousCTyr [Y]3120
contig referenceTTyr [Y]3120
53181252714 rs377558890 0.000byClusterbyFreq missenseCLeu [L]1121
contig referenceTPhe [F]1121
53181260722 rs781880894 0.000 synonymousAGlu [E]3123
contig referenceGGlu [E]3123
53181263725 rs148137939 0.000byClusterbyFreq synonymousTAsp [D]3124
contig referenceCAsp [D]3124
53181264726 rs370069134 0.000byClusterbyFreq missenseAMet [M]1125
contig referenceGVal [V]1125
53181265727 rs376476959 N.D.byCluster missenseCAla [A]2125
contig referenceTVal [V]2125
53181454740 rs1135095 N.D. synonymousAGln [Q]3129
contig referenceGGln [Q]3129
53181456742 rs79252610 0.000byClusterbyFreq missenseTPhe [F]2130
contig referenceCSer [S]2130
53181458744 rs782667867 0.000 missenseGVal [V]1131
contig referenceAMet [M]1131
53181461747 rs375221270 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1132
contig referenceCArg [R]1132
53181462748 rs200939049 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2132
contig referenceGArg [R]2132
53181472758 rs200462015 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsp [D]3135
contig referenceCAsp [D]3135
53181480766 rs782626105 0.000byFreq missenseGArg [R]2138
contig referenceALys [K]2138
53181484770 rs56208295 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTPhe [F]3139
contig referenceCPhe [F]3139
53181489775 rs782258819 0.000byFreq missenseTMet [M]2141
contig referenceCThr [T]2141
53181490776 rs782399164 0.000 synonymousAThr [T]3141
contig referenceGThr [T]3141
53181502788 rs782029128 0.000byFreq synonymousTArg [R]3145
contig referenceCArg [R]3145
53181513799 rs74793932 0.500 missenseGArg [R]2149
contig referenceALys [K]2149
53181515801 rs782177797 0.000 missenseGGlu [E]1150
contig referenceCGln [Q]1150
53181525811 rs370103982 0.000 missenseCThr [T]2153
contig referenceTIle [I]2153
53181540826 rs914087563 N.D. missenseGSer [S]2158
contig referenceAAsn [N]2158
53181547833 rs371324177 0.000 synonymousAGlu [E]3160
contig referenceGGlu [E]3160
53181553839 rs552199774 0.000byFreqWith1000GenomeData0.0002 synonymousTIle [I]3162
contig referenceCIle [I]3162
53181559845 rs187146419 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAThr [T]3164
contig referenceCThr [T]3164
53181560846 rs748035088 N.D. missenseCLeu [L]1165
contig referenceTPhe [F]1165
53181589875 rs782117554 0.000 synonymousCVal [V]3174
contig referenceGVal [V]3174
53181727919 rs782555227 0.000 missenseATyr [Y]2189
contig referenceGCys [C]2189
53181728920 rs150667829 0.000byCluster synonymousTCys [C]3189
contig referenceCCys [C]3189
53181732924 rs576747810 0.000byCluster nonsenseT1191
contig referenceCGln [Q]1191
53183128932 rs781809625 0.000byFreq synonymousTAsn [N]3193
contig referenceCAsn [N]3193
53183129933 rs782475090 0.000byFreq missenseAThr [T]1194
contig referenceGAla [A]1194
53183133937 rs977894332 N.D. missenseTVal [V]2195
contig referenceCAla [A]2195
53183146950 rs74558112 0.000byClusterbyFreq synonymousGLys [K]3199
contig referenceALys [K]3199
53183152956 rs75794462 0.004byClusterbyFreqWith1000GenomeData0.0006 synonymousTIle [I]3201
contig referenceCIle [I]3201
53183153957 rs149165175 0.000byClusterbyFreq missenseAAsn [N]1202
contig referenceGAsp [D]1202
53183164968 rs782677594 0.000 synonymousTIle [I]3205
contig referenceCIle [I]3205
53183165969 rs957946153 N.D. missenseASer [S]1206
contig referenceGGly [G]1206
53183174978 rs782179344 0.000byFreq missenseGAla [A]1209
contig referenceAThr [T]1209
53183179983 rs151199013 0.000byCluster synonymousTGly [G]3210
contig referenceCGly [G]3210
53183182986 rs372745352 0.000byClusterbyFreq synonymousTThr [T]3211
contig referenceCThr [T]3211
53183183987 rs375512516 0.000byClusterbyFreq missenseAThr [T]1212
contig referenceGAla [A]1212
53183184988 rs782237403 0.000byFreq missenseTVal [V]2212
contig referenceCAla [A]2212
53183185989 rs200410934 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAAla [A]3212
synonymousCAla [A]3212
contig referenceGAla [A]3212
53183193997 rs782006683 0.000 missenseAAsn [N]2215
contig referenceGSer [S]2215
53183195999 rs782269447 0.000 missenseTTrp [W]1216
contig referenceCArg [R]1216
531831961000 rs782428011 0.000 missenseAGln [Q]2216
contig referenceGArg [R]2216
531834571016 rs137874318 0.000byClusterbyFreq synonymousAGln [Q]3221
contig referenceGGln [Q]3221
531834641023 rs782139721 0.000 missenseGGly [G]1224
contig referenceCArg [R]1224
531834711030 rs782800469 0.000 missenseGSer [S]2226
contig referenceAAsn [N]2226
531834721031 rs78938657 0.000byCluster synonymousTAsn [N]3226
contig referenceCAsn [N]3226
531834751034 rs572878484 0.000byFreqWith1000GenomeData0.0002 synonymousTIle [I]3227
contig referenceCIle [I]3227
531834761035 rs782588098 0.000 missenseAAsn [N]1228
contig referenceGAsp [D]1228
531834811040 rs781816076 0.000 missenseAIle [I]3229
contig referenceGMet [M]3229
531834841043 rs55865871 0.000byClusterbyFreq synonymousAPro [P]3230
synonymousTPro [P]3230
contig referenceGPro [P]3230
531834871046 rs982499152 N.D. synonymousTHis [H]3231
contig referenceCHis [H]3231
531834891048 rs782261953 0.000byFreq missenseAHis [H]2232
contig referenceGArg [R]2232
531834951054 rs140841846 0.000byClusterbyFreq missenseGArg [R]2234
contig referenceALys [K]2234
531834971056 rs782573482 0.000 missenseAIle [I]1235
contig referenceGVal [V]1235
531835091068 rs369236318 0.000byClusterbyFreqWith1000GenomeData missenseGVal [V]1239
contig referenceAMet [M]1239
531835231082 rs782340381 0.000 synonymousTPhe [F]3243
contig referenceCPhe [F]3243
531835351094 rs55709737 0.005byClusterbyFreqWith1000GenomeData0.0078 synonymousTCys [C]3247
contig referenceCCys [C]3247
531835361095 rs144320413 0.000byClusterbyFreq missenseASer [S]1248
contig referenceGGly [G]1248
531835381097 rs147545646 0.000 synonymousTGly [G]3248
contig referenceCGly [G]3248
531835411100 rs782399989 0.000 synonymousTSer [S]3249
contig referenceCSer [S]3249
531835561115 rs782024075 0.000 synonymousALeu [L]3254
contig referenceGLeu [L]3254
531835621121 rs782171765 0.000 synonymousALys [K]3256
contig referenceGLys [K]3256
531835701129 rs1056031955 N.D. missenseCSer [S]2259
contig referenceTLeu [L]2259
531835721131 rs916124567 N.D. missenseCGln [Q]1260
contig referenceALys [K]1260
531848791146 rs373245386 0.000byCluster missenseASer [S]1265
contig referenceGGly [G]1265
531849031170 rs781826732 0.000byFreq synonymousAArg [R]1273
contig referenceCArg [R]1273
531849041171 rs377512214 0.000byClusterbyFreq missenseAGln [Q]2273
contig referenceGArg [R]2273
531849261193 rs145324216 0.000byCluster synonymousTCys [C]3280
contig referenceCCys [C]3280
531849301197 rs781877260 0.000 missenseGVal [V]1282
contig referenceAIle [I]1282
531849321199 rs372028715 N.D. synonymousAIle [I]3282
contig referenceCIle [I]3282
531849501217 rs782535622 0.000 synonymousCAla [A]3288
contig referenceTAla [A]3288
531849561223 rs370808161 0.000byCluster synonymousAAla [A]3290
contig referenceCAla [A]3290
531849591226 rs782180691 0.000 missenseTPhe [F]3291
contig referenceGLeu [L]3291
531849661233 rs782446907 0.000 missenseTPhe [F]1294
contig referenceGVal [V]1294
531849681235 rs782595191 0.000 synonymousAVal [V]3294
contig referenceCVal [V]3294
531849701237 rs782223934 0.000 missenseTIle [I]2295
contig referenceCThr [T]2295
531849711238 rs782373708 0.000 synonymousGThr [T]3295
contig referenceCThr [T]3295
531856051243 rs782243565 0.000byFreq missenseALys [K]2297
contig referenceGArg [R]2297
531856091247 rs782394276 0.000 synonymousTAla [A]3298
contig referenceCAla [A]3298
531856131251 rs782027610 0.000byClusterbyFreq missenseTTrp [W]1300
contig referenceCArg [R]1300
531856141252 rs143488209 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2300
contig referenceGArg [R]2300
531856261264 rs782317678 0.000 missenseTLeu [L]2304
contig referenceCSer [S]2304
531856271265 rs529176751 0.004byClusterbyFreqWith1000GenomeData0.0034 synonymousGSer [S]3304
contig referenceASer [S]3304
531856301268 rs201862364 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTAla [A]3305
contig referenceCAla [A]3305
531856321270 rs782756777 0.000 missenseTPhe [F]2306
contig referenceCSer [S]2306
531856431281 rs773144753 N.D. missenseTPhe [F]1310
contig referenceGVal [V]1310
531856541292 rs368866073 N.D. synonymousCTyr [Y]3313
contig referenceTTyr [Y]3313
531856601298 rs781846856 0.000byFreq synonymousCGly [G]3315
contig referenceTGly [G]3315
531856631301 rs138049008 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTPhe [F]3316
contig referenceCPhe [F]3316
531856641302 rs55929201 0.000byClusterbyFreq missenseALys [K]1317
contig referenceGGlu [E]1317
531856751313 rs143202454 0.000byClusterWith1000GenomeData0.0004 synonymousTThr [T]3320
contig referenceCThr [T]3320
531856761314 rs372047510 0.000byClusterbyFreq missenseAArg [R]1321
contig referenceGGly [G]1321
531856951333 rs900655326 N.D. missenseCThr [T]2327
contig referenceTMet [M]2327
531859271339 rs781987717 0.000byFreq missenseGGly [G]2329
contig referenceAAsp [D]2329
531859281340 rs373073065 0.000 missenseAGlu [E]3329
contig referenceCAsp [D]3329
531859301342 rs782129463 0.000 missenseGSer [S]2330
contig referenceAAsn [N]2330
531859321344 rs140359417 0.000byClusterbyFreq missenseGGly [G]1331
contig referenceASer [S]1331
531859361348 rs377377410 0.000byCluster missenseAGlu [E]2332
contig referenceGGly [G]2332
531859371349 rs782040901 0.000 synonymousCGly [G]3332
contig referenceGGly [G]3332
531859421354 rs34297342 N.D.byCluster missenseGCys [C]2334
contig referenceATyr [Y]2334
531859431355 rs546426559 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3334
contig referenceCTyr [Y]3334
531859441356 rs564822118 0.000With1000GenomeData0.0002 missenseASer [S]1335
contig referenceGGly [G]1335
531859501362 rs781828807 0.000 missenseTPhe [F]1337
contig referenceAIle [I]1337
531859671379 rs199752526 0.002 synonymousTSer [S]3342
contig referenceCSer [S]3342
531859731385 rs782483971 0.000 missenseGTrp [W]3344
contig referenceCCys [C]3344
531859751387 rs782756704 0.000 missenseGSer [S]2345
contig referenceAAsn [N]2345
531859801392 rs781863768 0.000 missenseGAsp [D]1347
contig referenceAAsn [N]1347
531859841396 rs33911937 0.002byClusterbyFreq YesmissenseGSer [S]2348
contig referenceAAsn [N]2348
531859851397 rs59688439 N.D. YesmissenseALys [K]3348
contig referenceCAsn [N]3348
531859881400 rs782673512 0.000 synonymousTPhe [F]3349
contig referenceCPhe [F]3349
531859891401 rs782177317 0.000 missenseGVal [V]1350
contig referenceAIle [I]1350
531859921404 rs782444193 0.000 missenseGVal [V]1351
contig referenceTPhe [F]1351
531860011413 rs782601434 0.000byFreq missenseAIle [I]1354
contig referenceGVal [V]1354
531860211433 rs782247216 0.000byFreq synonymousTPhe [F]3360
contig referenceCPhe [F]3360
531860221434 rs369078144 0.000byCluster YesmissenseAArg [R]1361
contig referenceGGly [G]1361
531861821455 rs538452225 0.000With1000GenomeData0.0002 missenseGVal [V]1368
contig referenceCLeu [L]1368
531861971470 rs782345985 0.000 missenseCGln [Q]1373
contig referenceGGlu [E]1373
531861991472 rs2230494 0.399byClusterbyFreqwithHapMapFreqWith1000GenomeData0.2821 YessynonymousAGlu [E]3373
contig referenceGGlu [E]3373
531862031476 rs1003630344 N.D. missenseGVal [V]1375
contig referenceTPhe [F]1375
531862041477 rs1056998 N.D. YesmissenseCSer [S]2375
contig referenceTPhe [F]2375
531862261499 rs782234345 0.000 synonymousALys [K]3382
contig referenceGLys [K]3382
531862361509 rs374287889 0.000 YessynonymousTLeu [L]1386
contig referenceCLeu [L]1386
531862411514 rs782384878 0.000byFreq synonymousAIle [I]3387
synonymousTIle [I]3387
contig referenceCIle [I]3387
531862421515 rs782161141 0.000 missenseAAsn [N]1388
contig referenceGAsp [D]1388
531862441517 rs782310822 0.000byFreq synonymousTAsp [D]3388
contig referenceCAsp [D]3388
531862471520 rs781931484 0.000byFreq synonymousTAsp [D]3389
contig referenceCAsp [D]3389
531862501523 rs560375784 0.000byClusterbyFreq synonymousTAsp [D]3390
contig referenceCAsp [D]3390
531862561529 rs782735766 0.000 synonymousAGlu [E]3392
contig referenceGGlu [E]3392
531862641537 rs1010140622 N.D. missenseCThr [T]2395
contig referenceTMet [M]2395
531862751548 rs782236812 N.D. missenseTTrp [W]1399
contig referenceCArg [R]1399
531862761549 rs781872957 0.000 missenseAGln [Q]2399
contig referenceGArg [R]2399
531862801553 rs1020644002 N.D. synonymousAVal [V]3400
contig referenceGVal [V]3400
531862861559 rs74485893 N.D. YessynonymousGThr [T]3402
contig referenceAThr [T]3402
531862911564 rs782150167 0.000 missenseGGly [G]2404
contig referenceCAla [A]2404
531862921565 rs200149825 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAla [A]3404
contig referenceCAla [A]3404
531862931566 rs150331740 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAThr [T]1405
contig referenceGAla [A]1405
531862941567 rs782458396 0.000byFreq missenseTVal [V]2405
contig referenceCAla [A]2405
531863021575 rs782607698 0.000 missenseAThr [T]1408
contig referenceCPro [P]1408
531863081581 rs34502209 0.000byCluster YesmissenseGVal [V]1410
missenseTPhe [F]1410
contig referenceCLeu [L]1410
531863241597 rs35181307 0.000byClusterbyFreq YesmissenseATyr [Y]2415
contig referenceGCys [C]2415
531866121622 rs781864780 0.000 synonymousALeu [L]3423
contig referenceGLeu [L]3423
531866201630 rs372295257 0.000 YesmissenseAGlu [E]2426
contig referenceTVal [V]2426
531866271637 rs781945047 N.D. missenseTAsp [D]3428
contig referenceGGlu [E]3428
531866311641 rs782521690 0.000 missenseTPhe [F]1430
contig referenceCLeu [L]1430
531866361646 rs377107086 0.000byClusterbyFreq YessynonymousTAsn [N]3431
contig referenceCAsn [N]3431
531866391649 rs781784839 0.000 synonymousCGly [G]3432
contig referenceGGly [G]3432
531866421652 rs200890839 0.002byClusterbyFreqWith1000GenomeData0.0014 YessynonymousAGly [G]3433
contig referenceGGly [G]3433
531866441654 rs781824115 0.000 frame shift-Ala [A]2434
contig referenceAAsp [D]2434
531866451655 rs782596735 0.000 missenseAGlu [E]3434
contig referenceCAsp [D]3434
531866721682 rs1018675596 N.D. synonymousGGly [G]3443
contig referenceCGly [G]3443
531866731683 rs372673092 0.000byClusterbyFreq YesmissenseTCys [C]1444
contig referenceCArg [R]1444
531866741684 rs782504487 0.000 missenseAHis [H]2444
contig referenceGArg [R]2444
531866841694 rs782659087 0.000byFreq synonymousTLeu [L]3447
contig referenceCLeu [L]3447
531866851695 rs141979341 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsn [N]1448
contig referenceTTyr [Y]1448
531866891699 rs782310444 0.000byFreq missenseAHis [H]2449
missenseCPro [P]2449
contig referenceGArg [R]2449
531866951705 rs782219896 0.000byFreq missenseTMet [M]2451
contig referenceCThr [T]2451
531873491715 rs41295962 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTAla [A]3454
contig referenceCAla [A]3454
531873501716 rs782660507 0.000 missenseAThr [T]1455
contig referenceGAla [A]1455
531873511717 rs782288849 0.000byFreq missenseGGly [G]2455
contig referenceCAla [A]2455
531873611727 rs782302678 0.000 missenseAIle [I]3458
contig referenceGMet [M]3458
531873621728 rs781934889 0.000 missenseCArg [R]1459
contig referenceTCys [C]1459
531873671733 rs782077845 0.000 synonymousGGly [G]3460
contig referenceAGly [G]3460
531873971763 rs201154167 0.002 YessynonymousCIle [I]3470
contig referenceTIle [I]3470
531874001766 rs782354642 0.000 synonymousTTyr [Y]3471
contig referenceCTyr [Y]3471
531887441793 rs782332004 0.000 synonymousTLeu [L]3480
contig referenceGLeu [L]3480
531887451794 rs2306574 0.377byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.2865 YessynonymousTLeu [L]1481
contig referenceCLeu [L]1481
531887481797 rs782099545 0.000 missenseAAsn [N]1482
contig referenceGAsp [D]1482
531887511800 rs35891605 0.002byClusterbyFreq YesmissenseTTrp [W]1483
contig referenceCArg [R]1483
531887521801 rs879255393 N.D.byCluster Uncertain significancemissenseAGln [Q]2483
contig referenceGArg [R]2483
531887741823 rs781875657 0.000byFreq synonymousTAla [A]3490
contig referenceCAla [A]3490
531887831832 rs990776956 N.D. synonymousTGly [G]3493
contig referenceGGly [G]3493
531887931842 rs782153279 0.000 missenseALys [K]1497
contig referenceGGlu [E]1497
531887941843 rs782805306 0.000 missenseTVal [V]2497
contig referenceAGlu [E]2497
531887951844 rs781785325 0.000byFreq missenseTAsp [D]3497
contig referenceGGlu [E]3497
531888041853 rs149751382 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTPhe [F]3500
contig referenceCPhe [F]3500
531888051854 rs782726901 0.000 missenseTTrp [W]1501
contig referenceGGly [G]1501
531888151864 rs781836069 0.000 missenseAGln [Q]2504
contig referenceGArg [R]2504
531888311880 rs782493008 0.000 synonymousTCys [C]3509
contig referenceCCys [C]3509
531888321881 rs606231296 N.D. PathogenicmissenseASer [S]1510
contig referenceGGly [G]1510
531888391888 rs782657576 0.000 missenseTLeu [L]2512
contig referenceCPro [P]2512
531888431892 rs782273678 0.000 synonymousTAsp [D]3513
contig referenceCAsp [D]3513
531888491898 rs782440941 0.000byFreq synonymousAIle [I]3515
synonymousTIle [I]3515
contig referenceCIle [I]3515
531888511900 rs34971355 N.D. Yesframe shift-Leu [L]2517
contig referenceCPro [P]2517
531888551904 rs148833677 0.000byCluster YessynonymousCPro [P]3517
contig referenceTPro [P]3517
531890691919 rs782355344 0.000 synonymousTGly [G]3522
contig referenceCGly [G]3522
531890701920 rs781978248 0.000 synonymousTLeu [L]1523
contig referenceCLeu [L]1523
531891051955 rs79490732 0.000byCluster YessynonymousTPhe [F]3534
contig referenceCPhe [F]3534
531891091959 rs782794412 0.000 missenseAIle [I]1536
contig referenceGVal [V]1536
531891171967 rs782032884 0.000 synonymousCLeu [L]3538
contig referenceGLeu [L]3538
531891201970 rs375360762 0.000byClusterbyFreq YessynonymousTTyr [Y]3539
contig referenceCTyr [Y]3539
531891291979 rs782746660 0.000 synonymousTLeu [L]3542
contig referenceCLeu [L]3542
531891301980 rs781840522 0.000 missenseGVal [V]1543
contig referenceAIle [I]1543
531891381988 rs782122153 0.000 synonymousAGln [Q]3545
contig referenceGGln [Q]3545
531891441994 rs782783185 0.000byFreq synonymousGPro [P]3547
contig referenceCPro [P]3547
531891491999 rs781894186 0.000 missenseGArg [R]2549
contig referenceAHis [H]2549
531891562006 rs782559465 0.000 synonymousCAsp [D]3551
contig referenceTAsp [D]3551
531891712021 rs782567850 0.000 synonymousGLeu [L]3556
contig referenceCLeu [L]3556
531891742024 rs147601598 0.000byClusterbyFreq YessynonymousTPhe [F]3557
contig referenceCPhe [F]3557
531891842034 rs782131199 N.D. missenseASer [S]1561
contig referenceCArg [R]1561
531891852035 rs782458851 0.000byFreq missenseAHis [H]2561
contig referenceGArg [R]2561
531891892039 rs575489885 0.000byFreqWith1000GenomeData0.0004 synonymousAVal [V]3562
contig referenceGVal [V]3562
531891942044 rs146289210 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTMet [M]2564
contig referenceCThr [T]2564
531891952045 rs564128768 0.000byFreqWith1000GenomeData0.0002 synonymousAThr [T]3564
contig referenceGThr [T]3564
531892082058 rs141992569 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTCys [C]1569
contig referenceCArg [R]1569
531892092059 rs138712106 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAHis [H]2569
contig referenceGArg [R]2569
531892192069 rs781952551 0.000 synonymousTThr [T]3572
contig referenceCThr [T]3572
531892262076 rs782099975 0.000 missenseCPro [P]1575
contig referenceTSer [S]1575
531892292079 rs782371398 0.000byFreq missenseGGlu [E]1576
contig referenceALys [K]1576
531892302080 rs782006621 0.000byFreq missenseGArg [R]2576
contig referenceALys [K]2576
531892322082 rs782155110 0.000 missenseAAsn [N]1577
contig referenceGAsp [D]1577
531898732097 rs781964037 0.000byFreq missenseTPhe [F]1582
contig referenceCLeu [L]1582
531898812105 rs782104099 0.000 synonymousGGlu [E]3584
contig referenceAGlu [E]3584
531898992123 rs77870723 N.D. YessynonymousAArg [R]3590
contig referenceGArg [R]3590
531899052129 rs554301583 0.000With1000GenomeData0.0002 synonymousCGly [G]3592
contig referenceAGly [G]3592
531899102134 rs146302697 0.000byClusterbyFreq YesmissenseTIle [I]2594
contig referenceCThr [T]2594
531899112135 rs1075865 0.067byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0980 YessynonymousGThr [T]3594
contig referenceCThr [T]3594
531899202144 rs782819653 0.000byFreq synonymousAIle [I]3597
contig referenceCIle [I]3597
531899262150 rs781873887 N.D. missenseGMet [M]3599
contig referenceCIle [I]3599
531899312155 rs781792221 0.000 missenseGArg [R]2601
contig referenceCPro [P]2601
531899402164 rs782452542 0.000 missenseGArg [R]2604
contig referenceALys [K]2604
531899452169 rs782747089 0.000 missenseGVal [V]1606
contig referenceAIle [I]1606
531899552179 rs781857969 0.000 missenseAAsn [N]2609
contig referenceCThr [T]2609
531899582182 rs782525579 0.000 missenseCPro [P]2610
contig referenceTLeu [L]2610
531899692193 rs606231297 0.000byCluster PathogenicmissenseTTrp [W]1614
contig referenceCArg [R]1614
531899702194 rs782284458 0.000byFreq missenseAGln [Q]2614
contig referenceGArg [R]2614
531899732197 rs74838104 0.000byClusterbyFreq YesmissenseTMet [M]2615
contig referenceGArg [R]2615
531899862210 rs900495 0.032byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0595 YessynonymousCPro [P]3619
contig referenceTPro [P]3619
531899912215 rs34738769 N.D. Yesframe shift-Ser [S]2621
contig referenceGArg [R]2621
531899992223 rs79000840 N.D. YesmissenseAMet [M]1624
contig referenceGVal [V]1624
531900002224 rs782223641 0.000 missenseCAla [A]2624
contig referenceTVal [V]2624
531921162234 rs199634315 0.000byCluster YessynonymousTPro [P]3627
contig referenceCPro [P]3627
531921192237 rs782253844 0.000 missenseTSer [S]3628
contig referenceAArg [R]3628
531921252243 rs539145524 0.000With1000GenomeData0.0002 synonymousTTyr [Y]3630
contig referenceCTyr [Y]3630
531921402258 rs782526924 0.000 missenseCHis [H]3635
contig referenceGGln [Q]3635
531921522270 rs782670259 0.000byFreq synonymousTAsn [N]3639
contig referenceCAsn [N]3639
531921612279 rs56338517 0.019byClusterbyFreqWith1000GenomeData0.0325 YessynonymousAAla [A]3642
contig referenceGAla [A]3642
531921622280 rs778015441 0.000byClusterbyFreq missenseTCys [C]1643
contig referenceCArg [R]1643
531921632281 rs369041593 0.000byClusterbyFreq YesmissenseAHis [H]2643
contig referenceGArg [R]2643
531921672285 rs782209507 0.000 synonymousTLeu [L]3644
contig referenceCLeu [L]3644
531921692287 rs142844487 N.D.byCluster YesmissenseTPhe [F]2645
contig referenceCSer [S]2645
531921702288 rs782373917 0.000byFreq synonymousTSer [S]3645
contig referenceCSer [S]3645
531921762294 rs781997779 0.000byFreq synonymousTSer [S]3647
contig referenceCSer [S]3647
531921822300 rs782148014 0.000byFreq missenseTAsn [N]3649
contig referenceGLys [K]3649
531921892307 rs974024636 N.D. missenseGVal [V]1652
contig referenceAIle [I]1652
531921912309 rs147565728 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTIle [I]3652
contig referenceCIle [I]3652
531921922310 rs781914241 0.000byFreq missenseAAsn [N]1653
contig referenceGAsp [D]1653
531921942312 rs969739377 N.D. missenseAGlu [E]3653
contig referenceCAsp [D]3653
531922052323 rs747189999 N.D. missenseGArg [R]2657
contig referenceAGln [Q]2657
531922112329 rs782059592 0.000byFreq missenseTVal [V]2659
contig referenceCAla [A]2659
531922152333 rs2230497 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTPhe [F]3660
contig referenceCPhe [F]3660
531922162334 rs149202171 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1661
contig referenceGAla [A]1661
531922282346 rs782124352 0.000 missenseAIle [I]1665
contig referenceTPhe [F]1665
531922362354 rs782784858 0.000 synonymousTAsn [N]3667
contig referenceCAsn [N]3667
531922372355 rs148364495 0.000byCluster YesmissenseTSer [S]1668
contig referenceCPro [P]1668
531922382356 rs782557014 0.000 missenseAHis [H]2668
contig referenceCPro [P]2668
531922412359 rs782571548 0.000 missenseGArg [R]2669
contig referenceALys [K]2669
531922452363 rs781808423 0.000byFreq synonymousTPhe [F]3670
contig referenceCPhe [F]3670
531922462364 rs782481552 0.000byFreq missenseALys [K]1671
contig referenceGGlu [E]1671
531922502368 rs782624317 0.000 missenseCPro [P]2672
contig referenceAHis [H]2672
531922582376 rs782256859 0.000 nonsenseT1675
contig referenceGGlu [E]1675
531922632381 rs782403404 0.000 synonymousCAsp [D]3676
contig referenceTAsp [D]3676

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