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dbSNP

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SNP linked to Gene (geneID:11200) 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): 16
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017028561.1minus strandXP_016884050.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028560.1minus strandXP_016884049.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529845.2minus strandXP_011528147.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529844.2minus strandXP_011528146.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529843.1minus strandXP_011528145.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529842.2minus strandXP_011528144.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529841.1minus strandXP_011528143.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529840.2minus strandXP_011528142.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011529839.2minus strandXP_011528141.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_006724116.2minus strandXP_006724179.2reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_006724114.3minus strandXP_006724177.2reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_145862.2minus strandNP_665861.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_007194.3minus strandNP_009125.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349956.1minus strandNP_001336885.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001257387.1minus strandNP_001244316.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001005735.1minus strandNP_001005735.1reverseNT_011520.13GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_937807.2825, 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
286879061695 rs773670297 0.000byFreq synonymousCAla [A]3541
synonymousGAla [A]3541
contig referenceTAla [A]3541
286879091692 rs1194893297 N.D. synonymousCAla [A]3540
contig referenceTAla [A]3540
286879151686 rs750337711 0.000 synonymousAVal [V]3538
contig referenceGVal [V]3538
286879161685 rs1415501996 N.D. missenseCAla [A]2538
contig referenceTVal [V]2538
286879201681 rs1175957439 N.D. missenseAThr [T]1537
contig referenceGAla [A]1537
286879361665 rs758555487 0.000byFreq synonymousAGlu [E]3531
contig referenceGGlu [E]3531
286879411660 rs1444665408 N.D. missenseAThr [T]1530
contig referenceGAla [A]1530
286879431658 rs751653049 0.000byFreq missenseAAsp [D]2529
contig referenceGGly [G]2529
286879521649 rs746341976 0.000 missenseGGly [G]2526
contig referenceAGlu [E]2526
286879541647 rs770307891 0.000 synonymousCGly [G]3525
contig referenceGGly [G]3525
286879551646 rs1212728170 N.D. missenseTVal [V]2525
contig referenceGGly [G]2525
286879561645 rs780512032 0.000 missenseAArg [R]1525
missenseCArg [R]1525
contig referenceGGly [G]1525
286879601641 rs748954413 0.000 synonymousGArg [R]3523
contig referenceTArg [R]3523
286879611640 rs948928965 N.D. missenseAHis [H]2523
missenseTLeu [L]2523
contig referenceGArg [R]2523
286879771624 rs753560465 0.000 missenseCArg [R]1518
missenseGGly [G]1518
contig referenceASer [S]1518
286879861615 rs1399879170 N.D. missenseAThr [T]1515
contig referenceCPro [P]1515
286891501599 rs1346924016 N.D. synonymousTPro [P]3509
contig referenceCPro [P]3509
286891541595 rs1338238773 N.D. missenseCPro [P]2508
contig referenceTLeu [L]2508
286891601589 rs1398732281 N.D. missenseTIle [I]2506
contig referenceCThr [T]2506
286891811568 rs761750423 N.D. missenseCPro [P]2499
contig referenceTLeu [L]2499
286891861563 rs762041905 0.000 synonymousCAsp [D]3497
contig referenceTAsp [D]3497
286891871562 rs549945536 0.000With1000GenomeData0.0002 missenseGGly [G]2497
contig referenceAAsp [D]2497
286891911558 rs756250205 0.000 nonsenseT1496
contig referenceCGln [Q]1496
286891971552 rs754339938 0.000 missenseGGlu [E]1494
contig referenceALys [K]1494
286892121537 rs1420382294 N.D. nonsenseT1489
contig referenceGGlu [E]1489
286892131536 rs1439502759 N.D. missenseGGlu [E]3488
contig referenceTAsp [D]3488
286940391526 rs1199577809 N.D. nonsenseA2485
contig referenceGTrp [W]2485
286940411524 rs749156425 0.000byFreq synonymousAPro [P]3484
synonymousTPro [P]3484
contig referenceGPro [P]3484
286940551510 rs773600515 0.000 missenseAThr [T]1480
contig referenceGAla [A]1480
286940571508 rs1464731405 N.D. missenseCAla [A]2479
contig referenceAGlu [E]2479
286940631502 rs762488591 N.D.byCluster missenseTIle [I]2477
contig referenceCThr [T]2477
286940641501 rs760928861 0.000 missenseGAla [A]1477
contig referenceAThr [T]1477
286940741491 rs1280437455 N.D. synonymousTAla [A]3473
contig referenceAAla [A]3473
286940781487 rs1319009992 N.D. frame shift-Arg [R]2472
contig referenceALys [K]2472
286940841481 rs1483112470 N.D. missenseGGly [G]2470
contig referenceAAsp [D]2470
286940871478 rs763344790 0.000 missenseCAla [A]2469
contig referenceTVal [V]2469
286941021463 rs529571124 0.000With1000GenomeData0.0002 missenseGArg [R]2464
contig referenceALys [K]2464
286941091456 rs751228409 0.000 missenseGVal [V]1462
contig referenceCLeu [L]1462
286951271447 rs769729382 0.000 missenseCPro [P]1459
contig referenceGAla [A]1459
286951281446 rs776093527 0.000 synonymousGLys [K]3458
contig referenceALys [K]3458
286951371437 rs1287444894 N.D. synonymousGVal [V]3455
contig referenceCVal [V]3455
286951411433 rs1233346197 N.D. missenseGGly [G]2454
contig referenceAGlu [E]2454
286951451429 rs763395924 0.000byFreq missenseCPro [P]1453
contig referenceGAla [A]1453
286951481426 rs764449869 0.000 missenseCArg [R]1452
contig referenceTTrp [W]1452
286951501424 rs139088611 0.000byCluster YesmissenseCAla [A]2451
contig referenceTVal [V]2451
286951511423 rs548796284 0.000byFreqWith1000GenomeData0.0004 missenseAIle [I]1451
contig referenceGVal [V]1451
286951551419 rs1294969715 N.D. synonymousGPro [P]3449
contig referenceTPro [P]3449
286951601414 rs750012749 0.000 missenseGVal [V]1448
missenseTPhe [F]1448
contig referenceAIle [I]1448
286951631411 rs17881473 0.011 YesmissenseAIle [I]1447
contig referenceTPhe [F]1447
286951641410 rs17880867 0.015byClusterbyFreq YesmissenseALys [K]3446
contig referenceCAsn [N]3446
286951671406 rs1214213337 N.D. frame shiftA2445
contig reference-Tyr [Y]2445
286951681406 rs778246892 N.D. missenseGCys [C]2445
contig referenceATyr [Y]2445
286951741399 rs1257597864 N.D. (12bp) [ETNNR]1443
286951771397 rs779383555 0.000 missenseAAsn [N]2442
contig referenceGSer [S]2442
286951861388 rs1467664274 N.D. missenseGArg [R]2439
contig referenceAGln [Q]2439
286951961378 rs17882922 0.014byClusterbyFreq YesmissenseAMet [M]1436
contig referenceCLeu [L]1436
286952111362 rs771772104 0.000 frame shiftT3431
contig reference-Arg [R]3431
286952181356 rs781514295 0.000byFreq synonymousCSer [S]3428
contig referenceTSer [S]3428
286952201354 rs1182200321 N.D. missenseCPro [P]1428
contig referenceTSer [S]1428
286952251349 rs769933461 0.000byFreq missenseAHis [H]2426
contig referenceCPro [P]2426
286952271347 rs28601856 N.D.byCluster YessynonymousCPro [P]3425
contig referenceAPro [P]3425
286952291345 rs1423670346 N.D. missenseTSer [S]1425
contig referenceCPro [P]1425
286952301344 rs1257494163 N.D. synonymousCTyr [Y]3424
contig referenceTTyr [Y]3424
286952331341 rs749368980 0.000 synonymousTGly [G]3423
contig referenceGGly [G]3423
286952361338 rs1483964791 N.D. missenseGArg [R]3422
contig referenceTSer [S]3422
286957101331 rs578218280 0.001byFreqWith1000GenomeData0.0004 missenseATyr [Y]2420
contig referenceGCys [C]2420
286957151326 rs774870353 0.000 missenseALeu [L]3418
contig referenceTPhe [F]3418
286957211318 rs760118917 0.000byFreq -1416
286957251316 rs748555394 0.000 missenseAAsp [D]2415
contig referenceTVal [V]2415
286957301311 rs867238570 N.D. synonymousGLeu [L]3413
contig referenceALeu [L]3413
286957311310 rs765664259 0.000byFreq frame shift-2413
contig referenceTLeu [L]2413
286957311310 rs1248967885 N.D. missenseCSer [S]2413
contig referenceTLeu [L]2413
286957371304 rs371418985 0.000byClusterbyFreq YesnonsenseA2411
contig referenceGTrp [W]2411
286957391302 rs773380144 0.000 synonymousTCys [C]3410
contig referenceCCys [C]3410
286957431298 rs761095543 0.000 missenseTVal [V]2409
contig referenceAAsp [D]2409
286957601281 rs1350419049 N.D. synonymousAGly [G]3403
contig referenceGGly [G]3403
286957611280 rs1435731482 N.D. missenseTVal [V]2403
contig referenceGGly [G]2403
286957631278 rs1402419782 N.D. synonymousCAla [A]3402
contig referenceTAla [A]3402
286957641277 rs1175088679 N.D. missenseTVal [V]2402
contig referenceCAla [A]2402
286957651276 rs758206293 0.000 missenseAThr [T]1402
contig referenceGAla [A]1402
286957661275 rs560781587 0.000byFreqWith1000GenomeData0.0004 synonymousCThr [T]3401
contig referenceTThr [T]3401
286957701271 rs1476312560 N.D. missenseCAla [A]2400
contig referenceGGly [G]2400
286957711269 rs1277192686 N.D. frame shiftTTrp [W]3400
contig reference-Gly [G]3400
286957711270 rs1342820782 N.D. missenseTTrp [W]1400
contig referenceGGly [G]1400
286957811260 rs753159426 0.000 frame shift-Phe [F]3397
contig referenceTVal [V]3397
286958021239 rs1314236188 N.D. synonymousAThr [T]3389
contig referenceCThr [T]3389
286958101231 rs771387164 0.000 missenseCPro [P]1387
missenseGAla [A]1387
contig referenceAThr [T]1387
286958221219 rs769439021 0.000 missenseGAla [A]1383
contig referenceAThr [T]1383
286958321209 rs1369563704 N.D. synonymousCSer [S]3379
contig referenceTSer [S]3379
286958521189 rs74751600 N.D.byCluster missenseGGlu [E]1373
contig referenceALys [K]1373
286958671174 rs755127902 0.000 missenseAAsn [N]1368
contig referenceGAsp [D]1368
286969071161 rs761681864 0.000byFreq synonymousCLeu [L]3363
contig referenceTLeu [L]3363
286969111157 rs767306337 0.000 missenseATyr [Y]2362
contig referenceGCys [C]2362
286969131155 rs572668197 0.000With1000GenomeData0.0002 synonymousTAsp [D]3361
contig referenceCAsp [D]3361
286969141154 rs1327661553 N.D. missenseGGly [G]2361
contig referenceAAsp [D]2361
286969201148 rs760449049 0.000byFreq missenseGGly [G]2359
contig referenceAGlu [E]2359
286969261142 rs765425451 0.000 missenseTPhe [F]2357
contig referenceCSer [S]2357
286969281140 rs1375690221 N.D. synonymousGSer [S]3356
contig referenceASer [S]3356
286969311137 rs938389349 N.D. synonymousALeu [L]3355
contig referenceGLeu [L]3355
286969341134 rs1427613188 N.D. missenseTPhe [F]3354
contig referenceALeu [L]3354
286969381130 rs758434121 0.000 missenseCAla [A]2353
contig referenceTVal [V]2353
286969411127 rs764181318 0.000 missenseGSer [S]2352
contig referenceAAsn [N]2352
286969421126 rs1361935182 N.D. missenseCHis [H]1352
contig referenceAAsn [N]1352
286969501118 rs1235802399 N.D. missenseGArg [R]2349
contig referenceALys [K]2349
286969611107 rs756520206 0.000 synonymousTHis [H]3345
contig referenceCHis [H]3345
286969641104 rs202051128 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGMet [M]3344
contig referenceAIle [I]3344
286969691099 rs141502354 0.000byCluster YesmissenseGVal [V]1343
contig referenceAIle [I]1343
286969741094 rs773846607 0.000byFreq missenseCThr [T]2341
missenseGSer [S]2341
contig referenceAAsn [N]2341
286969771091 rs747655283 0.000 missenseGGly [G]2340
contig referenceAGlu [E]2340
286969811087 rs371207635 0.000byCluster YesmissenseTTyr [Y]1339
contig referenceCHis [H]1339
286998391079 rs1300388084 N.D. missenseCPro [P]2336
contig referenceAGln [Q]2336
286998491069 rs1352758126 N.D. synonymousCLeu [L]1333
contig referenceTLeu [L]1333
286998501068 rs1053994833 N.D. synonymousTLeu [L]3332
contig referenceCLeu [L]3332
286998571061 rs894075046 N.D. missenseGArg [R]2330
contig referenceAGln [Q]2330
286998581060 rs768973809 0.000 missenseGGlu [E]1330
contig referenceCGln [Q]1330
286998611057 rs866542645 N.D. missenseCHis [H]1329
contig referenceTTyr [Y]1329
286998721046 rs767656411 0.000byFreq missenseTMet [M]2325
contig referenceALys [K]2325
286998801038 rs1286531890 N.D. synonymousCAla [A]3322
contig referenceTAla [A]3322
286998841034 rs374395284 0.000byCluster YesmissenseCAla [A]2321
contig referenceAGlu [E]2321
286998861032 rs1237880782 N.D. missenseTAsn [N]3320
contig referenceALys [K]3320
286998891029 rs1310156280 N.D. synonymousALeu [L]3319
contig referenceGLeu [L]3319
286998901028 rs766794072 0.000 missenseCPro [P]2319
contig referenceTLeu [L]2319
286998941024 rs749153163 0.000 frame shift-Ala [A]1318
contig referenceCArg [R]1318
286999081010 rs1039682955 N.D. missenseCAla [A]2313
contig referenceTVal [V]2313
286999091009 rs752302543 0.000byFreq missenseAMet [M]1313
contig referenceGVal [V]1313
286999111007 rs1157311218 N.D. missenseCThr [T]2312
contig referenceALys [K]2312
286999131005 rs757921503 0.000byFreq synonymousTAsp [D]3311
contig referenceCAsp [D]3311
28699919999 rs746952353 0.000 synonymousCLeu [L]3309
contig referenceGLeu [L]3309
28699922987 rs1404529877 N.D. frame shift-Asp [D]3305
contig reference(10bp)Glu [E]3305
28699934984 rs1156943614 N.D. missenseAIle [I]3304
contig referenceGMet [M]3304
28703505980 rs1233699096 N.D. missenseCSer [S]2303
contig referenceTLeu [L]2303
28703508977 rs1480964932 N.D. missenseGGly [G]2302
contig referenceAGlu [E]2302
28703514971 rs1467276809 N.D. missenseGGly [G]2300
contig referenceTVal [V]2300
28703515970 rs1171168822 N.D. missenseAIle [I]1300
contig referenceGVal [V]1300
28703516965 rs1390889028 N.D. frame shift-Cys [C]2298
contig referenceATATTTyr [Y]2298
28703526957 rs771860071 0.000byFreq -3295
28703526959 rs777397542 0.000 missenseGGly [G]2296
missenseTVal [V]2296
contig referenceAAsp [D]2296
28703529956 rs751136808 0.000 missenseCAla [A]2295
contig referenceAGlu [E]2295
28703530955 rs1345979642 N.D. missenseCGln [Q]1295
contig referenceGGlu [E]1295
28703535950 rs932236548 N.D. missenseGGly [G]2293
contig referenceAAsp [D]2293
28703537948 rs772683219 0.000 frame shift-Leu [L]3292
contig referenceTPhe [F]3292
28703544941 rs1422634212 N.D. frame shift-Thr [T]2290
contig referenceAAsn [N]2290
28703548936 rs1280976864 N.D. frame shiftT3289
contig reference-Lys [K]3289
28703551934 rs1341939689 N.D. missenseGVal [V]1288
contig referenceAIle [I]1288
28703554931 rs1394069156 N.D. missenseCGln [Q]1287
contig referenceALys [K]1287
28703557928 rs986132746 N.D. missenseGVal [V]1286
contig referenceAIle [I]1286
28703558927 rs756692505 0.000 missenseGMet [M]3285
contig referenceCIle [I]3285
28703565920 rs781222802 0.000 missenseAHis [H]2283
contig referenceCPro [P]2283
28710006918 rs987815892 N.D. synonymousCHis [H]3282
contig referenceTHis [H]3282
28710008916 rs774068238 0.000 missenseTTyr [Y]1282
contig referenceCHis [H]1282
28710013911 rs1490781911 N.D. missenseGArg [R]2280
contig referenceTLeu [L]2280
28710015909 rs761306535 0.000 synonymousALys [K]3279
contig referenceGLys [K]3279
28710023901 rs767199070 0.000 synonymousCLeu [L]1277
contig referenceTLeu [L]1277
28710029895 rs769430546 0.000 frame shift-Lys [K]1275
contig referenceGGlu [E]1275
28710030893 rs776078377 0.000 frame shiftTArg [R]2275
contig reference-Glu [E]2275
28710034890 rs755666375 0.000 missenseCAla [A]2273
contig referenceAGlu [E]2273
28710034889 rs1474786480 N.D. frame shift-Asn [N]1273
contig referenceGAGlu [E]1273
28710038886 rs1426981647 N.D. missenseGAla [A]1272
contig referenceAThr [T]1272
28710050874 rs766462610 0.000 missenseTPhe [F]1268
contig referenceCLeu [L]1268
28711910863 rs765216307 0.000 missenseTVal [V]2264
contig referenceCAla [A]2264
28711911862 rs752493299 0.000 missenseAThr [T]1264
missenseTSer [S]1264
contig referenceGAla [A]1264
28711927846 rs781308692 0.000 synonymousCIle [I]3258
contig referenceTIle [I]3258
28711936837 rs750596640 0.000 synonymousALys [K]3255
contig referenceGLys [K]3255
28711941832 rs1395878179 N.D. missenseGGly [G]1254
contig referenceAArg [R]1254
28711947826 rs780042868 0.000byFreq missenseGGly [G]1252
contig referenceASer [S]1252
28711948825 rs1422471902 N.D. synonymousTIle [I]3251
contig referenceCIle [I]3251
28711954819 rs749366698 0.000byFreq missenseCAsn [N]3249
missenseTAsn [N]3249
contig referenceGLys [K]3249
28711959814 rs779457035 0.000 missenseGVal [V]1248
contig referenceAIle [I]1248
28711962809 rs571741738 N.D. -2246
28711965808 rs748504161 0.013byClusterbyFreq missenseAIle [I]1246
missenseCLeu [L]1246
missenseTLeu [L]1246
contig referenceGVal [V]1246
28711966807 rs773017534 0.001byFreq missenseTAsn [N]3245
contig referenceALys [K]3245
28711969804 rs760343903 0.000byFreq synonymousALys [K]3244
contig referenceGLys [K]3244
28711972801 rs770565516 0.000byFreq nonsenseA3243
synonymousCCys [C]3243
contig referenceTCys [C]3243
28711974798 rs1392940377 N.D. frame shift-3243
contig referenceATCys [C]3243
28711975798 rs150150389 0.000byCluster YessynonymousGThr [T]3242
contig referenceAThr [T]3242
28711976797 rs765136136 0.000 missenseTIle [I]2242
contig referenceCThr [T]2242
28711977796 rs752647314 0.000 missenseGAla [A]1242
contig referenceAThr [T]1242
28711978795 rs1023861689 N.D. missenseCAsn [N]3241
contig referenceALys [K]3241
28711981792 rs762686006 0.000 synonymousAArg [R]3240
contig referenceGArg [R]3240
28711982791 rs1323633806 N.D. missenseTMet [M]2240
contig referenceGArg [R]2240
28711985788 rs763892124 0.000 missenseGGly [G]2239
missenseTVal [V]2239
contig referenceAGlu [E]2239
28711992781 rs1179425981 N.D. missenseAThr [T]1237
contig referenceGAla [A]1237
28711993780 rs1359839685 N.D. synonymousCLeu [L]3236
contig referenceGLeu [L]3236
28711995777 rs761930314 0.000byFreq GTAAAG [VK]3235
28711998775 rs780245843 0.000 nonsenseT1235
contig referenceALys [K]1235
28712004769 rs753972711 0.000 missenseALys [K]1233
contig referenceGGlu [E]1233
28712005768 rs755057592 0.000 synonymousCGly [G]3232
contig referenceAGly [G]3232
28719396754 rs745475247 0.000 missenseGGly [G]1228
contig referenceASer [S]1228
28719401749 rs1296957097 N.D. missenseCPro [P]2226
contig referenceTLeu [L]2226
28719405745 rs1342011335 N.D. frame shift-Leu [L]1225
contig referenceAThr [T]1225
28719410740 rs769193111 0.000 nonsenseG2223
contig referenceCSer [S]2223
28719413737 rs775134484 0.000 missenseCThr [T]2222
contig referenceTMet [M]2222
28719416734 rs113947614 0.500 YesmissenseCThr [T]2221
contig referenceTIle [I]2221
28719421729 rs1222043566 N.D. missenseCAsp [D]3219
contig referenceAGlu [E]3219
28719424726 rs907621837 N.D. missenseGGlu [E]3218
contig referenceTAsp [D]3218
28719425725 rs961959952 N.D. missenseGGly [G]2218
contig referenceAAsp [D]2218
28719428722 rs1486909310 N.D. missenseTIle [I]2217
contig referenceGArg [R]2217
28719433717 rs761630560 0.000 synonymousGAla [A]3215
contig referenceAAla [A]3215
28719439706 rs1418870415 N.D. -1212
28719446701 rs756131136 0.000 frame shift-Phe [F]2210
contig referenceCAGTSer [S]2210
28719448702 rs981239453 N.D. synonymousCSer [S]3210
contig referenceASer [S]3210
28719449701 rs767253467 0.000byFreq missenseTLeu [L]2210
contig referenceCSer [S]2210
28719451699 rs1165394017 N.D. synonymousAGln [Q]3209
contig referenceGGln [Q]3209
28719454694 rs1385692387 N.D. -1208
28719456694 rs773955899 0.000byClusterbyFreq frame shift-Ile [I]1208
contig referenceGAsp [D]1208
28719459691 rs776728729 0.000 missenseTTyr [Y]1207
contig referenceGAsp [D]1207
28719461688 rs1346554630 N.D. frame shift-Arg [R]1206
contig referenceGTVal [V]1206
28719464686 rs759734429 0.000 missenseTIle [I]2205
contig referenceCThr [T]2205
28719466684 rs752876192 0.000 synonymousTLeu [L]3204
contig referenceGLeu [L]3204
28719474676 rs758529351 0.000 missenseCLeu [L]1202
contig referenceTPhe [F]1202
28719481669 rs1250779080 N.D. frame shift-Leu [L]3199
contig referenceTPhe [F]3199
28724981660 rs750858710 0.000 synonymousCAsn [N]3196
contig referenceTAsn [N]3196
28724987654 rs761126328 0.000byFreq synonymousTSer [S]3194
contig referenceCSer [S]3194
28724991650 rs766599514 0.000byFreq missenseCPro [P]2193
contig referenceTLeu [L]2193
28724991649 rs775167943 0.000 frame shift-Lys [K]1193
contig referenceCTLeu [L]1193
28724992649 rs201716357 0.000byClusterWith1000GenomeData0.0002 YessynonymousTLeu [L]1193
contig referenceCLeu [L]1193
28724994647 rs899211928 N.D. nonsenseA2192
missenseTLeu [L]2192
contig referenceCSer [S]2192
28724999642 rs754689169 0.000byFreq synonymousTAla [A]3190
contig referenceAAla [A]3190
28725001640 rs764852525 0.000 missenseAThr [T]1190
contig referenceGAla [A]1190
28725003638 rs1456708574 N.D. missenseCThr [T]2189
contig referenceTIle [I]2189
28725006635 rs757812205 0.000 missenseGGly [G]2188
contig referenceAGlu [E]2188
28725011630 rs1226489823 N.D. synonymousCAsn [N]3186
contig referenceTAsn [N]3186
28725018623 rs1444410452 N.D. missenseGSer [S]2184
contig referenceAAsn [N]2184
28725024617 rs372168051 0.000byCluster YesmissenseAHis [H]2182
missenseGArg [R]2182
contig referenceCPro [P]2182
28725035606 rs554465930 0.000byFreqWith1000GenomeData0.0002 synonymousCGly [G]3178
synonymousGGly [G]3178
contig referenceAGly [G]3178
28725037604 rs1457055483 N.D. missenseAArg [R]1178
contig referenceGGly [G]1178
28725040601 rs796389290 N.D.byCluster nonsenseT1177
contig referenceALys [K]1177
28725059582 rs1157102702 N.D. synonymousGVal [V]3170
contig referenceAVal [V]3170
28725071570 rs759868962 0.000 synonymousCAsn [N]3166
contig referenceTAsn [N]3166
28725080561 rs764907556 0.000 synonymousTHis [H]3163
contig referenceCHis [H]3163
28725081560 rs752304641 0.000 missenseGArg [R]2163
contig referenceAHis [H]2163
28725091550 rs1225437533 N.D. frame shift-1160
contig referenceAIle [I]1160
28725100541 rs748262921 0.000 missenseGVal [V]1157
contig referenceAIle [I]1157
28725103538 rs1346200065 N.D. frame shift-Thr [T]1156
contig referenceTTyr [Y]1156
28725106535 rs1175278074 N.D. missenseCPro [P]1155
contig referenceTSer [S]1155
28725107534 rs564924749 0.000byFreqWith1000GenomeData0.0004 missenseGLys [K]3154
contig referenceCAsn [N]3154
28725109532 rs1320819223 N.D. missenseGAsp [D]1154
contig referenceAAsn [N]1154
28725113528 rs773234759 0.000 synonymousCPro [P]3152
contig referenceTPro [P]3152
28725114527 rs1359910629 N.D. missenseAHis [H]2152
contig referenceCPro [P]2152
28725117524 rs1413319082 N.D. missenseAAsp [D]2151
contig referenceGGly [G]2151
28725119522 rs771386331 0.000 synonymousAVal [V]3150
contig referenceGVal [V]3150
28725243516 rs1298109942 N.D. synonymousAArg [R]3148
contig referenceGArg [R]3148
28725244515 rs142966756 0.000 YesmissenseTMet [M]2148
contig referenceGArg [R]2148
28725251508 rs781678896 0.000byFreq missenseCLeu [L]1146
contig referenceAIle [I]1146
28725252507 rs746314542 0.000 synonymousTArg [R]3145
contig referenceGArg [R]3145
28725268491 rs768234137 0.000 missenseAAsn [N]2140
contig referenceGSer [S]2140
28725268491 rs1447453758 N.D. frame shift-Thr [T]2140
contig referenceGSer [S]2140
28725270489 rs200917541 0.002byCluster YesnonsenseA3139
synonymousTTyr [Y]3139
contig referenceCTyr [Y]3139
28725279480 rs911826883 N.D. nonsenseA3136
contig referenceCTyr [Y]3136
28725286473 rs1404473412 N.D. missenseTVal [V]2134
contig referenceAAsp [D]2134
28725289470 rs1346472987 N.D. missenseALys [K]2133
contig referenceCThr [T]2133
28725292467 rs750393263 0.000 missenseTIle [I]2132
contig referenceGArg [R]2132
28725296463 rs1275395933 N.D. missenseGGlu [E]1131
contig referenceALys [K]1131
28725298461 rs150677496 0.000byCluster YesmissenseAGln [Q]2130
contig referenceTLeu [L]2130
28725300459 rs560046142 N.D.byCluster synonymousALeu [L]3129
contig referenceGLeu [L]3129
28725303456 rs766409666 0.000byFreq synonymousGPro [P]3128
contig referenceAPro [P]3128
28725306453 rs199929178 0.000byClusterWith1000GenomeData0.0002 YessynonymousGGlu [E]3127
contig referenceAGlu [E]3127
28725311448 rs1192210146 N.D. missenseAAsn [N]1126
contig referenceGAsp [D]1126
28725321438 rs1331351515 N.D. missenseCAsp [D]3122
contig referenceAGlu [E]3122
28725324435 rs1209379774 N.D. synonymousCCys [C]3121
contig referenceTCys [C]3121
28725325434 rs777887044 0.000 missenseTPhe [F]2121
contig referenceGCys [C]2121
28725326433 rs1356801901 N.D. missenseASer [S]1121
contig referenceTCys [C]1121
28725331428 rs373648967 0.000byCluster YesmissenseGArg [R]2119
contig referenceALys [K]2119
28725339420 rs1394601881 N.D. synonymousAGly [G]3116
contig referenceGGly [G]3116
28725345414 rs756949505 N.D. nonsenseA3114
missenseTCys [C]3114
contig referenceGTrp [W]3114
28725348411 rs905674348 N.D. nonsenseG3113
contig referenceCTyr [Y]3113
28725349410 rs770343235 0.000 missenseGCys [C]2113
contig referenceATyr [Y]2113
28725363396 rs1385799739 N.D. synonymousCCys [C]3108
contig referenceTCys [C]3108
28734403391 rs775320614 0.000byFreq missenseALys [K]1107
contig referenceGGlu [E]1107
28734409385 rs1010061908 N.D. missenseCHis [H]1105
contig referenceAAsn [N]1105
28734422372 rs1456691189 N.D. missenseTHis [H]3100
contig referenceGGln [Q]3100
28734427367 rs537051622 0.000byFreqWith1000GenomeData0.0002 missenseTPhe [F]199
contig referenceCLeu [L]199
28734430364 rs1300016035 N.D. missenseAThr [T]198
contig referenceGAla [A]198
28734438356 rs750596499 0.000byFreq missenseAGln [Q]295
missenseCPro [P]295
contig referenceGArg [R]295
28734446348 rs1478388236 N.D. synonymousGPro [P]392
contig referenceCPro [P]392
28734450344 rs748559775 0.000 missenseAAsp [D]291
missenseTVal [V]291
contig referenceCAla [A]291
28734453341 rs758792132 0.000byFreq missenseTLeu [L]290
contig referenceCPro [P]290
28734454340 rs777588170 0.000 missenseTSer [S]190
contig referenceCPro [P]190
28734464330 rs1201436179 N.D. missenseTAsp [D]386
contig referenceGGlu [E]386
28734466328 rs551930027 0.000With1000GenomeData0.0002 missenseCGln [Q]186
contig referenceGGlu [E]186
28734467327 rs1418971926 N.D. synonymousCPro [P]385
contig referenceTPro [P]385
28734469325 rs1366081066 N.D. missenseTSer [S]185
contig referenceCPro [P]185
28734473321 rs776271158 0.000 synonymousGGln [Q]383
contig referenceAGln [Q]383
28734484310 rs745355600 0.000 missenseTSer [S]180
contig referenceCPro [P]180
28734497297 rs1217608176 N.D. synonymousGPro [P]375
contig referenceTPro [P]375
28734499291 rs766416564 0.000 frame shift-374
contig referenceTATTCIle [I]374
28734507287 rs769819013 0.000byFreq missenseCSer [S]272
missenseGCys [C]272
contig referenceATyr [Y]272
28734515279 rs762760523 0.000 missenseCHis [H]369
contig referenceGGln [Q]369
28734521273 rs111292981 0.500 synonymousTSer [S]367
contig referenceCSer [S]367
28734527267 rs1411341011 N.D. synonymousGThr [T]365
contig referenceAThr [T]365
28734529265 rs1308200351 N.D. missenseGAla [A]165
contig referenceAThr [T]165
28734533261 rs761028062 0.000 synonymousGLeu [L]363
contig referenceALeu [L]363
28734541253 rs766499735 0.000 missenseGGly [G]161
contig referenceASer [S]161
28734545249 rs750143255 N.D. synonymousGThr [T]359
contig referenceAThr [T]359
28734552238 rs1390780522 N.D. frame shift-Trp [W]156
contig referenceAGCTCSer [S]156
28734555239 rs1255827598 N.D. missenseCThr [T]256
contig referenceGSer [S]256
28734558236 rs765799649 0.000 missenseTPhe [F]255
contig referenceCSer [S]255
28734564230 rs753204096 0.000byFreq missenseGCys [C]253
contig referenceCSer [S]253
28734567227 rs778214603 0.000 missenseTPhe [F]252
contig referenceCSer [S]252
28734570224 rs753968550 0.000 frame shift-Arg [R]251
contig referenceAGln [Q]251
28734572222 rs967317594 N.D. synonymousTSer [S]350
contig referenceCSer [S]350
28734577217 rs756991701 0.000byFreq missenseCPro [P]149
contig referenceTSer [S]149
28734579215 rs780686266 0.000byFreq missenseCThr [T]248
contig referenceAAsn [N]248
28734588206 rs558321010 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]245
contig referenceCThr [T]245
28734590204 rs199715101 0.000byClusterbyFreq synonymousTSer [S]344
contig referenceCSer [S]344
28734595199 rs749158713 0.000byFreq missenseGAla [A]143
contig referenceAThr [T]143
28734597195 rs1294840272 N.D. -342
28734597197 rs1483975421 N.D. missenseGCys [C]242
contig referenceCSer [S]242
28734599195 rs768578726 0.000 synonymousTSer [S]341
contig referenceCSer [S]341
28734610184 rs774192195 0.000 missenseGVal [V]138
contig referenceAIle [I]138
28734614179 rs762863407 0.000 (21bp) [cds-indel]237
28734622172 rs1231012263 N.D. nonsenseT134
contig referenceCGln [Q]134
28734629165 rs1197659709 N.D. synonymousTSer [S]331
contig referenceCSer [S]331
28734633161 rs112032663 0.500 missenseAAsp [D]230
contig referenceGGly [G]230
28734635159 rs951525447 N.D. synonymousGGln [Q]329
contig referenceAGln [Q]329
28734643151 rs376736188 0.000 missenseGGlu [E]127
contig referenceCGln [Q]127
28734645148 rs764156722 0.000 frame shiftAAsn [N]126
contig reference-Thr [T]126
28734650144 rs759679862 N.D. synonymousTSer [S]324
contig referenceCSer [S]324
28734651131 rs751454041 0.000 frame shift-Pro [P]220
contig reference(13bp)Gln [Q]220
28734662132 rs375507194 0.000byClusterbyFreq missenseTHis [H]320
contig referenceGGln [Q]320
28734663131 rs753257724 0.000byFreq missenseGArg [R]220
contig referenceAGln [Q]220
28734669125 rs151218932 0.000byClusterWith1000GenomeData missenseATyr [Y]218
contig referenceGCys [C]218
28734674120 rs958282985 N.D. synonymousCSer [S]316
contig referenceTSer [S]316
28734676118 rs1426424086 N.D. missenseCArg [R]116
contig referenceASer [S]116
28734687107 rs1166395498 N.D. missenseGCys [C]212
contig referenceCSer [S]212
28734691103 rs1349961118 N.D. missenseALys [K]111
contig referenceCGln [Q]111
28734692102 rs1330700030 N.D. synonymousAGln [Q]310
contig referenceGGln [Q]310
2873469698 rs1456931393 N.D. missenseGGly [G]29
contig referenceCAla [A]29
2873469896 rs780920036 0.000 missenseTAsp [D]38
synonymousAGlu [E]38
contig referenceGGlu [E]38
2873470286 rs757016287 0.000 frame shift-Leu [L]25
contig reference(7bp)Ser [S]25
2873470787 rs145183886 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]35
contig referenceGSer [S]35
2873471084 rs1213043094 N.D. missenseTAsp [D]34
contig referenceGGlu [E]34
2873471777 rs1417811260 N.D. missenseTPhe [F]22
contig referenceCSer [S]22