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dbSNP

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SNP linked to Gene (geneID:4048) 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): 6
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011538349.2minus strandXP_011536651.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
XM_011538348.1minus strandXP_011536650.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
XM_005268871.1minus strandXP_005268928.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
NM_001256644.1minus strandNP_001243573.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
NM_001256643.1minus strandNP_001243572.1reverseNT_029419.13GRCh38.p7View snp on GeneModel
NM_000895.2minus strandNP_000886.1reverseNT_029419.13GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_001748703.1269, 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
960008312134 rs555938444 0.001byClusterbyFreqWith1000GenomeData0.0006 -
960009941973 rs747672626 0.000byFreq missenseAAsn [N]1611
missenseTTyr [Y]1611
contig referenceGAsp [D]1611
960010041963 rs772772254 0.000byFreq missenseGGlu [E]3607
contig referenceCAsp [D]3607
960010051962 rs749799076 0.000 missenseTVal [V]2607
contig referenceAAsp [D]2607
960010111956 rs771445978 0.000byFreq missenseAGlu [E]2605
contig referenceGGly [G]2605
960010141953 rs140220052 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCAla [A]2604
contig referenceTVal [V]2604
960010151952 rs199864596 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]1604
contig referenceGVal [V]1604
960010211946 rs767741827 0.000byFreq missenseCLeu [L]1602
missenseGVal [V]1602
contig referenceAMet [M]1602
960010241943 rs760949724 0.000 missenseAThr [T]1601
contig referenceGAla [A]1601
960010251942 rs764122372 0.000 synonymousGThr [T]3600
contig referenceTThr [T]3600
960010251941 rs867172414 N.D. AGAAsp [D]2600
960010261941 rs1803916 N.D. YesmissenseGSer [S]2600
contig referenceCThr [T]2600
960010301937 rs753936155 0.000byFreq missenseAMet [M]1599
missenseCLeu [L]1599
contig referenceGVal [V]1599
960010311936 rs766375049 0.000byFreq synonymousTPro [P]3598
contig referenceCPro [P]3598
960010521915 rs201891328 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGlu [E]3591
contig referenceGGlu [E]3591
960010611906 rs754759846 0.000 synonymousGThr [T]3588
contig referenceCThr [T]3588
960010651902 rs145220113 0.000byClusterbyFreq YesmissenseAGln [Q]2587
contig referenceGArg [R]2587
960010711896 rs752358414 0.000 missenseGGly [G]2585
contig referenceCAla [A]2585
960010721895 rs755759231 0.000byFreq missenseAThr [T]1585
contig referenceGAla [A]1585
960010741893 rs777197120 0.000 missenseTLeu [L]2584
contig referenceAGln [Q]2584
960010791888 rs200755127 0.002 YessynonymousCHis [H]3582
contig referenceTHis [H]3582
960010801887 rs748793205 0.000byFreq missenseGArg [R]2582
contig referenceAHis [H]2582
960010891878 rs771347255 0.000 missenseGGly [G]2579
contig referenceAAsp [D]2579
960010941873 rs779336106 0.000byFreq synonymousTAla [A]3577
contig referenceCAla [A]3577
960029721848 rs755743616 N.D. missenseAGln [Q]2569
contig referenceGArg [R]2569
960029731847 rs376007921 0.000byClusterbyFreq YesmissenseTTrp [W]1569
synonymousAArg [R]1569
contig referenceCArg [R]1569
960029731847 rs766934579 0.000byClusterbyFreq frame shift-Gly [G]1569
contig referenceCArg [R]1569
960029801840 rs756819873 0.000 missenseCAsn [N]3566
contig referenceGLys [K]3566
960029991821 rs778391269 0.000byFreq missenseGSer [S]2560
contig referenceCThr [T]2560
960030051815 rs746416867 0.000 missenseCThr [T]2558
contig referenceTMet [M]2558
960030131807 rs772547894 0.000 synonymousAAla [A]3555
contig referenceGAla [A]3555
960030141806 rs368572493 0.000byClusterbyFreq YesmissenseTVal [V]2555
contig referenceCAla [A]2555
960030161804 rs747363093 0.000byFreq missenseTPhe [F]3554
synonymousALeu [L]3554
contig referenceGLeu [L]3554
960030271793 rs776850878 0.000byClusterbyFreq missenseAThr [T]1551
contig referenceGAla [A]1551
960030281792 rs202063965 0.000byClusterbyFreq YessynonymousTAsp [D]3550
contig referenceCAsp [D]3550
960030311789 rs770062828 0.000 synonymousAGlu [E]3549
contig referenceGGlu [E]3549
960030331787 rs755245009 N.D. missenseALys [K]1549
contig referenceGGlu [E]1549
960030561764 rs773393917 0.000 missenseAGln [Q]2541
contig referenceGArg [R]2541
960038441749 rs747344992 0.000byFreq missenseAGln [Q]2536
contig referenceGArg [R]2536
960038481745 rs781567412 0.000 frame shift-Tyr [Y]1535
contig referenceAIle [I]1535
960038681725 rs755425616 0.000byFreq missenseGSer [S]2528
contig referenceAAsn [N]2528
960038731720 rs781403066 0.000byFreq synonymousTAsn [N]3526
contig referenceCAsn [N]3526
960038821711 rs748418908 0.000byFreq synonymousAGlu [E]3523
contig referenceGGlu [E]3523
960038881705 rs199862341 0.000byClusterbyFreq YesmissenseAIle [I]3521
contig referenceGMet [M]3521
960038921701 rs372873763 0.000byCluster YesmissenseAGln [Q]2520
contig referenceGArg [R]2520
960039081685 rs749340534 0.000 synonymousCLeu [L]1515
contig referenceTLeu [L]1515
960039161677 rs771917557 0.000byFreq missenseGArg [R]2512
contig referenceCPro [P]2512
960063181668 rs771110833 0.000 missenseGArg [R]2509
contig referenceAGln [Q]2509
960063231663 rs774265420 0.000 synonymousAThr [T]3507
contig referenceGThr [T]3507
960063241662 rs747019580 0.000 missenseALys [K]2507
contig referenceCThr [T]2507
960063301656 rs768432568 0.000 missenseTVal [V]2505
contig referenceCAla [A]2505
960063371649 rs776444818 0.000byFreq missenseAIle [I]1503
contig referenceTPhe [F]1503
960063461640 rs761534513 0.000 synonymousCLeu [L]1500
contig referenceTLeu [L]1500
960063491637 rs200830508 0.002 YesnonsenseT1499
contig referenceCGln [Q]1499
960063541632 rs769445561 0.000byFreq missenseGCys [C]2497
missenseTPhe [F]2497
contig referenceCSer [S]2497
960063571629 rs762586849 0.000 missenseATyr [Y]2496
contig referenceCSer [S]2496
960063781608 rs776678392 0.000byFreq missenseAAsp [D]2489
missenseTVal [V]2489
contig referenceCAla [A]2489
960063811605 rs751009934 0.000 missenseGSer [S]2488
contig referenceAAsn [N]2488
960063831603 rs760110329 0.000 missenseGLeu [L]3487
contig referenceCPhe [F]3487
960063891597 rs767870683 0.000 missenseALys [K]3485
contig referenceTAsn [N]3485
960063951591 rs369785093 0.000byCluster YessynonymousCAsp [D]3483
contig referenceTAsp [D]3483
960063971589 rs532536692 N.D.byCluster missenseTTyr [Y]1483
contig referenceGAsp [D]1483
960064011585 rs45630739 0.014byClusterbyFreqWith1000GenomeData0.0174 YesmissenseTAsp [D]3481
contig referenceAGlu [E]3481
960064081578 rs778278275 0.000 missenseTVal [V]2479
contig referenceCAla [A]2479
960064091577 rs754154743 0.000byFreq missenseAThr [T]1479
contig referenceGAla [A]1479
960090951575 rs773942554 0.000 missenseGSer [S]2478
contig referenceCThr [T]2478
960090991570 rs879923931 N.D. frame shift-Cys [C]3476
contig referenceGATrp [W]3476
960091021568 rs758902617 0.000byFreq missenseCArg [R]1476
contig referenceTTrp [W]1476
960091071563 rs768151566 0.000 missenseGArg [R]2474
contig referenceAGln [Q]2474
960091131557 rs753324234 0.000 nonsenseA2472
contig referenceTLeu [L]2472
960091171553 rs182608358 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1471
contig referenceGAla [A]1471
960091281542 rs764603867 0.000 missenseGSer [S]2467
contig referenceAAsn [N]2467
960091381528 rs756977478 0.000byFreq frame shift-Ser [S]3463
contig referenceTATGAMet [M]3463
960091471523 rs754208172 0.000 missenseAAsn [N]1461
contig referenceTTyr [Y]1461
960131901519 rs41435448 N.D.byCluster YessynonymousTPro [P]3459
contig referenceCPro [P]3459
960131931516 rs764658937 0.000byFreq missenseCAsn [N]3458
contig referenceGLys [K]3458
960132051504 rs777061485 0.000 synonymousALeu [L]3454
contig referenceGLeu [L]3454
960132081501 rs762030162 0.000 synonymousCGly [G]3453
contig referenceAGly [G]3453
960132091500 rs371247528 0.000byCluster YesmissenseAGlu [E]2453
contig referenceGGly [G]2453
960132141495 rs750674682 0.000 synonymousCSer [S]3451
contig referenceTSer [S]3451
960132151494 rs758612594 0.000 missenseGCys [C]2451
contig referenceCSer [S]2451
960132171492 rs2228061 0.006byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0100 YesnonsenseG3450
synonymousTTyr [Y]3450
contig referenceCTyr [Y]3450
960132201489 rs751588315 0.000 synonymousGLeu [L]3449
contig referenceCLeu [L]3449
960132281481 rs756074360 0.000 missenseCPro [P]1447
contig referenceGAla [A]1447
960132411468 rs777619441 0.000byFreq synonymousGGln [Q]3442
contig referenceAGln [Q]3442
960132451464 rs749121418 0.000 missenseGSer [S]2441
contig referenceAAsn [N]2441
960132461463 rs757058294 0.000 missenseCHis [H]1441
contig referenceAAsn [N]1441
960137581442 rs768343858 0.000 missenseGGlu [E]1434
contig referenceALys [K]1434
960137651435 rs780725914 0.000 synonymousGSer [S]3431
contig referenceCSer [S]3431
960137811419 rs748655518 0.000byFreq missenseGArg [R]2426
contig referenceALys [K]2426
960137891411 rs770289272 0.000byFreq missenseGGlu [E]3423
contig referenceTAsp [D]3423
960137941406 rs199968715 0.000byCluster YesmissenseGAla [A]1422
contig referenceAThr [T]1422
960138001400 rs763238840 0.000 missenseGVal [V]1420
contig referenceAIle [I]1420
960138091391 rs771156817 0.000 missenseCHis [H]1417
contig referenceTTyr [Y]1417
960138171383 rs143080064 0.000byClusterbyFreq YesmissenseCThr [T]2414
contig referenceALys [K]2414
960138191381 rs759750228 0.000 synonymousAGlu [E]3413
contig referenceGGlu [E]3413
960138251375 rs148235264 0.000byClusterbyFreq YessynonymousCTyr [Y]3411
contig referenceTTyr [Y]3411
960138301370 rs752772181 0.000 missenseTSer [S]1410
contig referenceGAla [A]1410
960138351365 rs761686774 0.000 nonsenseA2408
contig referenceTLeu [L]2408
960138371363 rs765153042 0.000 missenseGLeu [L]3407
contig referenceCPhe [F]3407
960138521348 rs750254223 0.000 synonymousAGlu [E]3402
contig referenceGGlu [E]3402
960148571344 rs372000339 0.000byCluster YesmissenseAGln [Q]2401
contig referenceCPro [P]2401
960148721329 rs112588072 0.500 YesmissenseGArg [R]2396
contig referenceAGln [Q]2396
960148731328 rs756424950 0.000 frame shift-Asn [N]1396
contig referenceCGln [Q]1396
960148731328 rs775435761 0.000 missenseALys [K]1396
contig referenceCGln [Q]1396
960148791322 rs760749003 0.000byFreq missenseGVal [V]1394
contig referenceCLeu [L]1394
960148801321 rs17403903 0.000 YessynonymousTTyr [Y]3393
contig referenceCTyr [Y]3393
960149081293 rs750448669 0.000byFreq missenseGCys [C]2384
contig referenceATyr [Y]2384
960149091292 rs762948665 0.000 missenseCHis [H]1384
contig referenceTTyr [Y]1384
960149171284 rs766330028 0.000 missenseTLeu [L]2381
contig referenceCSer [S]2381
960149271274 rs751354551 0.000 missenseTSer [S]1378
contig referenceGAla [A]1378
960149351266 rs374610737 0.000byCluster YesmissenseAHis [H]2375
contig referenceCPro [P]2375
960149411260 rs868009051 N.D. missenseCThr [T]2373
contig referenceTIle [I]2373
960149541247 rs767133733 0.000 missenseTTyr [Y]1369
contig referenceGAsp [D]1369
960149631238 rs752164484 0.000byFreq missenseGVal [V]1366
contig referenceCLeu [L]1366
960149651236 rs755710060 0.000byFreq missenseCThr [T]2365
missenseTIle [I]2365
contig referenceALys [K]2365
960149851216 rs147001898 0.004byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAGly [G]3358
contig referenceGGly [G]3358
960155831201 rs763615655 0.000 synonymousASer [S]3353
contig referenceGSer [S]3353
960155841200 rs753304100 0.000byFreq missenseGTrp [W]2353
missenseTLeu [L]2353
contig referenceCSer [S]2353
960156031181 rs779332002 0.000 missenseCArg [R]1347
contig referenceTTrp [W]1347
960156101174 rs746345560 0.000 synonymousALeu [L]3344
contig referenceGLeu [L]3344
960156371147 rs758861924 0.000 synonymousCGly [G]3335
contig referenceTGly [G]3335
960156391142 rs746470134 0.000byClusterbyFreq frame shift-Val [V]1334
contig referenceTTTGPhe [F]1334
960156431141 rs780246997 0.000 missenseTPhe [F]3333
contig referenceGLeu [L]3333
960156441140 rs375869173 0.000byClusterbyFreq YesmissenseCSer [S]2333
contig referenceTLeu [L]2333
960156451139 rs768954566 0.000 synonymousCLeu [L]1333
contig referenceTLeu [L]1333
960156471137 rs776885277 0.000byFreq missenseAGln [Q]2332
contig referenceGArg [R]2332
960156511133 rs138184255 0.000byClusterbyFreq YesmissenseAArg [R]1331
contig referenceGGly [G]1331
960156521132 rs369690251 0.000byClusterbyFreq YessynonymousTCys [C]3330
contig referenceCCys [C]3330
960156601124 rs200021597 0.000byClusterbyFreq YesmissenseAAsn [N]1328
contig referenceCHis [H]1328
960156621122 rs759388190 0.000 missenseAHis [H]2327
contig referenceGArg [R]2327
960156631121 rs201124482 0.000byClusterbyFreq YesmissenseTCys [C]1327
contig referenceCArg [R]1327
960156661118 rs754992133 0.000 frame shift-Asn [N]1326
contig referenceGGlu [E]1326
960156751109 rs775126584 0.000 missenseTLeu [L]1323
contig referenceGVal [V]1323
960156771107 rs760406837 0.000 missenseGSer [S]2322
contig referenceCThr [T]2322
960170541079 rs761421716 0.000 missenseAAsn [N]1313
contig referenceGAsp [D]1313
960170771056 rs377393502 0.000 YesmissenseGSer [S]2305
contig referenceAAsn [N]2305
960170791054 rs764772242 0.000byFreq synonymousTGly [G]3304
contig referenceGGly [G]3304
960175571018 rs762314510 0.000byFreq synonymousCAsn [N]3292
contig referenceTAsn [N]3292
960175741001 rs765903532 0.000byFreq missenseAAsn [N]1287
contig referenceGAsp [D]1287
960175751000 rs374639706 N.D. YessynonymousAGly [G]3286
contig referenceCGly [G]3286
96017580995 rs774789309 0.000 missenseTSer [S]1285
contig referenceGAla [A]1285
96018771986 rs776010569 0.000 missenseGAla [A]1282
contig referenceAThr [T]1282
96018773984 rs761002339 0.000byFreq missenseTLeu [L]2281
contig referenceCPro [P]2281
96018776981 rs764512504 0.000 missenseGSer [S]2280
contig referenceCThr [T]2280
96018800957 rs754046037 0.000 missenseCAla [A]2272
contig referenceAGlu [E]2272
96018802955 rs757476667 0.000 missenseAIle [I]3271
contig referenceGMet [M]3271
96018811946 rs149942316 0.004byClusterbyFreqWith1000GenomeData0.0070 YessynonymousCTyr [Y]3268
contig referenceTTyr [Y]3268
96018813944 rs750458309 0.000 missenseGAsp [D]1268
contig referenceTTyr [Y]1268
96018816941 rs754918186 0.000 missenseTSer [S]1267
contig referenceCPro [P]1267
96018817940 rs781053501 0.000 missenseALeu [L]3266
contig referenceCPhe [F]3266
96018821936 rs528598350 0.000With1000GenomeData0.0002 missenseATyr [Y]2265
missenseGCys [C]2265
contig referenceCSer [S]2265
96018822935 rs755932049 0.000 missenseCPro [P]1265
contig referenceTSer [S]1265
96018837920 rs777594065 0.000 synonymousCLeu [L]1260
contig referenceTLeu [L]1260
96018838919 rs201690842 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGLeu [L]3259
contig referenceALeu [L]3259
96018841916 rs770568978 0.000byFreq synonymousTAsp [D]3258
contig referenceCAsp [D]3258
96018845912 rs774029361 0.000 missenseGCys [C]2257
contig referenceATyr [Y]2257
96018851906 rs745316925 0.000 missenseTVal [V]2255
contig referenceGGly [G]2255
96018862895 rs181715691 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]3251
synonymousCPro [P]3251
contig referenceGPro [P]3251
96018863894 rs761212184 0.000byFreq missenseTLeu [L]2251
contig referenceCPro [P]2251
96018885872 rs147242667 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseGVal [V]1244
contig referenceAIle [I]1244
96018890867 rs777002332 0.000 missenseGArg [R]2242
contig referenceTLeu [L]2242
96018894863 rs761968859 0.000 missenseGVal [V]1241
contig referenceAMet [M]1241
96018896861 rs765372848 0.000byFreq missenseGCys [C]2240
contig referenceCSer [S]2240
96018899858 rs368472597 0.000 YesmissenseTVal [V]2239
contig referenceAGlu [E]2239
96018901856 rs750519066 0.000byFreq synonymousAThr [T]3238
contig referenceTThr [T]3238
96019197824 rs868746544 N.D. missenseTLeu [L]1228
contig referenceGVal [V]1228
96021117748 rs781753718 0.000 synonymousCLeu [L]3202
contig referenceGLeu [L]3202
96021131734 rs748600408 0.000byFreq missenseGVal [V]1198
contig referenceAIle [I]1198
96021133732 rs770188006 0.000 missenseGArg [R]2197
contig referenceCPro [P]2197
96021134731 rs773546858 0.000 missenseTSer [S]1197
contig referenceCPro [P]1197
96022147727 rs749589569 0.000 synonymousGLys [K]3195
contig referenceALys [K]3195
96022153721 rs771156857 0.000 synonymousTIle [I]3193
contig referenceCIle [I]3193
96022160714 rs774700907 0.000byFreq missenseGArg [R]2191
contig referenceALys [K]2191
96022164710 rs746045055 0.000 missenseCHis [H]1190
contig referenceTTyr [Y]1190
96022173701 rs772243016 0.000 synonymousCArg [R]1187
contig referenceAArg [R]1187
96022180694 rs775382689 0.000 synonymousTAsp [D]3184
contig referenceCAsp [D]3184
96022187687 rs761869394 0.000byFreq missenseTLeu [L]2182
contig referenceCPro [P]2182
96022188686 rs377060348 0.000byCluster YesmissenseTSer [S]1182
contig referenceCPro [P]1182
96022208666 rs773152015 0.000byFreq missenseAHis [H]2175
contig referenceGArg [R]2175
96022212662 rs762895575 0.000byFreq missenseGVal [V]1174
contig referenceAIle [I]1174
96022225649 rs766086121 0.000 synonymousGAla [A]3169
contig referenceAAla [A]3169
96022226648 rs374064006 0.000 YesmissenseAGlu [E]2169
contig referenceCAla [A]2169
96022241633 rs138750397 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGArg [R]2164
contig referenceCPro [P]2164
96022241633 rs754440475 0.000byClusterbyFreq frame shift-Leu [L]2164
contig referenceCPro [P]2164
96024487614 rs576678224 0.000byFreqWith1000GenomeData0.0004 missenseTSer [S]1158
contig referenceAThr [T]1158
96024488613 rs768841726 0.000 synonymousCTyr [Y]3157
contig referenceTTyr [Y]3157
96024497604 rs773346932 0.000 synonymousGLys [K]3154
contig referenceALys [K]3154
96024503596 rs781190402 0.000 -1152
96024509592 rs762956640 0.000 synonymousGThr [T]3150
contig referenceTThr [T]3150
96024511586 rs747974837 0.000 frame shift-His [H]3148
contig referenceGGACAGln [Q]3148
96024516585 rs770812124 0.000 missenseGArg [R]2148
contig referenceAGln [Q]2148
96024531570 rs773972676 0.000 missenseTVal [V]2143
contig referenceCAla [A]2143
96024533568 rs759264840 0.000byFreq missenseCSer [S]3142
contig referenceAArg [R]3142
96024542559 rs181046425 0.000byClusterWith1000GenomeData0.0002 YesmissenseGMet [M]3139
contig referenceCIle [I]3139
96027454543 rs550798263 0.000With1000GenomeData0.0002 missenseAAsn [N]2134
contig referenceGSer [S]2134
96027461536 rs149364918 0.000byClusterbyFreq YesmissenseAIle [I]1132
contig referenceCLeu [L]1132
96027464533 rs45630737 0.000 YesmissenseCHis [H]1131
contig referenceTTyr [Y]1131
96027473524 rs750925645 0.000 missenseCGln [Q]1128
contig referenceGGlu [E]1128
96027484513 rs758752506 0.000byFreq missenseGSer [S]2124
contig referenceCThr [T]2124
96027492505 rs144738499 0.000byClusterbyFreq YessynonymousCPro [P]3121
contig referenceTPro [P]3121
96027495502 rs751881784 0.000 synonymousGThr [T]3120
contig referenceTThr [T]3120
96027498499 rs763515039 N.D. synonymousTLeu [L]3119
contig referenceCLeu [L]3119
96027507489 rs777500749 0.000 frame shiftTPro [P]2117
contig reference-Gln [Q]2117
96027513484 rs11556465 0.000 YessynonymousCSer [S]3114
synonymousGSer [S]3114
contig referenceTSer [S]3114
96027513482 rs749055405 0.000byFreq -1114
96027523474 rs781456508 0.000 missenseTLeu [L]2111
contig referenceCPro [P]2111
96027526471 rs748109891 0.000byFreq missenseTPhe [F]2110
contig referenceCSer [S]2110
96027528469 rs757233463 0.000byFreq synonymousGThr [T]3109
synonymousTThr [T]3109
contig referenceCThr [T]3109
96027530467 rs745815395 0.000byFreq missenseTSer [S]1109
contig referenceAThr [T]1109
96027535462 rs771902623 0.000 missenseCSer [S]2107
contig referenceTPhe [F]2107
96027547450 rs775215639 0.000 missenseCThr [T]2103
contig referenceTIle [I]2103
96027554443 rs746694703 0.000byFreq missenseGVal [V]1101
contig referenceAIle [I]1101
96029056431 rs755259751 0.000 missenseGGlu [E]197
contig referenceALys [K]197
96029063424 rs767791143 0.000byFreq synonymousCAla [A]394
contig referenceTAla [A]394
96029065422 rs143721623 0.009byClusterbyFreqWith1000GenomeData0.0018 YesmissenseAThr [T]194
contig referenceGAla [A]194
96029066421 rs144424811 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTIle [I]393
contig referenceCIle [I]393
96029069418 rs146132369 0.000byCluster YessynonymousCPro [P]392
contig referenceTPro [P]392
96029072415 rs745812841 0.000 synonymousGLeu [L]391
contig referenceTLeu [L]391
96029081406 rs758291108 0.000 missenseCAsp [D]388
contig referenceAGlu [E]388
96029085402 rs140174999 0.000byClusterbyFreq YesmissenseGArg [R]287
contig referenceTMet [M]287
96029086401 rs530290388 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]187
contig referenceAMet [M]187
96029090397 rs111742986 0.000byFreqWith1000GenomeData0.0002 YessynonymousASer [S]385
synonymousCSer [S]385
contig referenceGSer [S]385
96029091396 rs747801691 0.000 missenseTLeu [L]285
contig referenceCSer [S]285
96029099388 rs769233993 0.000 synonymousTTyr [Y]382
contig referenceCTyr [Y]382
96029108379 rs376744191 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGArg [R]379
contig referenceAArg [R]379
96029118369 rs763589276 0.000 missenseGArg [R]276
contig referenceTLeu [L]276
96029120367 rs148100914 0.002byClusterbyFreqWith1000GenomeData0.0042 YessynonymousCAla [A]375
contig referenceTAla [A]375
96029123364 rs774873791 0.000byFreq synonymousCTyr [Y]374
contig referenceTTyr [Y]374
96029125362 rs77004192 0.000byFreq YesmissenseCHis [H]174
contig referenceTTyr [Y]174
96029126361 rs369137509 0.000byCluster YessynonymousGLys [K]373
contig referenceALys [K]373
96029135352 rs552907398 0.000With1000GenomeData0.0002 synonymousGGln [Q]370
contig referenceAGln [Q]370
96029141346 rs570818879 0.000With1000GenomeData0.0002 synonymousCAsn [N]368
contig referenceTAsn [N]368
96029142345 rs764110970 0.000byFreq missenseGSer [S]268
contig referenceAAsn [N]268
96029151336 rs753888840 0.000 missenseCAla [A]265
contig referenceTVal [V]265
96029152335 rs186566026 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAIle [I]165
contig referenceGVal [V]165
96029153334 rs771195682 0.000 frame shift-365
contig referenceAVal [V]365
96029168319 rs758344643 0.000byFreq missenseGGlu [E]359
contig referenceCAsp [D]359
96029176311 rs373421916 0.000byClusterbyFreq YesmissenseTSer [S]157
contig referenceAThr [T]157
96035363299 rs754046807 0.000 synonymousTLeu [L]153
contig referenceCLeu [L]153
96035364298 rs761943580 0.000 synonymousTSer [S]352
contig referenceCSer [S]352
96035368294 rs765266426 0.000 missenseCPro [P]251
contig referenceGArg [R]251
96035374288 rs751544922 0.000byFreq missenseGSer [S]249
contig referenceAAsn [N]249
96035393269 rs754858883 0.000 missenseCLeu [L]143
contig referenceGVal [V]143
96035397265 rs780882827 0.000 synonymousTLeu [L]341
contig referenceCLeu [L]341
96035398264 rs752473570 0.000byFreq missenseAHis [H]241
contig referenceTLeu [L]241
96035399263 rs796421652 N.D.byCluster missenseTPhe [F]141
contig referenceCLeu [L]141
96035405257 rs755739419 0.000 missenseCPro [P]139
contig referenceGAla [A]139
96035411251 rs777544689 0.000byClusterbyFreq missenseTTrp [W]137
contig referenceGGly [G]137
96035412250 rs748944321 0.000 synonymousTThr [T]336
contig referenceCThr [T]336
96035413249 rs770606531 0.000byFreq missenseGSer [S]236
contig referenceCThr [T]236
96035423239 rs778545869 0.000 missenseTTrp [W]133
contig referenceCArg [R]133
96035433229 rs746405693 0.000 missenseGGlu [E]329
contig referenceCAsp [D]329
96035436226 rs146423147 0.003byClusterbyFreqWith1000GenomeData0.0020 YessynonymousTVal [V]328
contig referenceCVal [V]328
96035439223 rs374916166 0.000byCluster YessynonymousTSer [S]327
contig referenceCSer [S]327
96035447215 rs538837004 0.000With1000GenomeData0.0002 missenseGGly [G]125
contig referenceCArg [R]125
96035448214 rs2228060 0.027byClusterbyFreqWith1000GenomeData0.0403 YessynonymousCLeu [L]324
synonymousCLeu [L]324
synonymousCLeu [L]324
synonymousTLeu [L]324
synonymousTLeu [L]324
synonymousTLeu [L]324
contig referenceGLeu [L]324
contig referenceGLeu [L]324
contig referenceGLeu [L]324
96035454208 rs149683156 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTLeu [L]322
contig referenceGLeu [L]322
96035457205 rs761996838 0.000 synonymousTHis [H]321
contig referenceCHis [H]321
96035472190 rs765321462 0.000byFreq synonymousAVal [V]316
contig referenceCVal [V]316
96035480182 rs750464533 0.000 missenseCPro [P]114
contig referenceGAla [A]114
96035485177 rs759400036 0.000 missenseTPhe [F]212
contig referenceCSer [S]212
96035493169 rs767434311 0.000byFreq synonymousTSer [S]39
contig referenceGSer [S]39
96035498164 rs752567344 0.000 missenseCArg [R]18
contig referenceTCys [C]18
96035499163 rs756004935 0.000 synonymousGThr [T]37
contig referenceCThr [T]37
96035501161 rs776079499 0.000 frame shift-Pro [P]17
contig referenceAThr [T]17
96035504158 rs763767484 0.000 missenseCHis [H]16
contig referenceGAsp [D]16
96035509153 rs79510571 0.001byClusterbyFreqWith1000GenomeData0.0008 YesmissenseCThr [T]24
contig referenceTIle [I]24
96035517145 rs756923091 0.000 missenseAIle [I]31
contig referenceGMet [M]31

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