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SNP linked to Gene ABCC8 (geneID:6833) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001287174.1minus strandNP_001274103.1reverseNT_009237.19GRCh38<- currently shown
XM_006718286.1minus strandXP_006718349.1reverseNT_009237.19GRCh38View snp on GeneModel
NM_000352.4minus strandNP_000343.2reverseNT_009237.19GRCh38View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38NT_009237.19NM_001287174.1NP_001274103.1reverseminus strand278, 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
173930044802 rs143557848 0.000 missenseAHis [H]21578
contig referenceGArg [R]21578
173930054801 rs147170162 0.000 missenseTCys [C]11578
contig referenceCArg [R]11578
173930094797 rs73419228 0.024byClusterbyFreqWith1000GenomeData0.0119 YessynonymousTPhe [F]31576
contig referenceCPhe [F]31576
173930124794 rs200402268 0.001With1000GenomeData0.0005 YessynonymousTSer [S]31575
contig referenceCSer [S]31575
173930174789 rs199736860 0.001With1000GenomeData0.0005 YesmissenseAThr [T]11574
contig referenceGAla [A]11574
173930234783 rs8192690 0.061byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0317 YesmissenseAIle [I]11572
contig referenceGVal [V]11572
173930294777 rs200934986 0.002 YesmissenseCHis [H]11570
contig referenceGAsp [D]11570
173930304776 rs192371917 0.001byClusterWith1000GenomeData0.0005 YessynonymousALys [K]31569
contig referenceGLys [K]31569
173930344772 rs374743072 N.D. YesmissenseAGln [Q]21568
contig referenceGArg [R]21568
173930454761 rs370175955 N.D. YessynonymousALys [K]31564
contig referenceGLys [K]31564
173930714735 rs374895381 N.D. YesmissenseGVal [V]11556
contig referenceAIle [I]11556
173930814725 rs145386421 0.001byClusterbyFreqWith1000GenomeData0.0005 YessynonymousALys [K]31552
contig referenceGLys [K]31552
173930844722 rs17846721 N.D. YessynonymousALeu [L]31551
contig referenceGLeu [L]31551
173930904716 rs367862706 N.D. YessynonymousTIle [I]31549
contig referenceCIle [I]31549
173931094697 rs72559713 N.D. YesmissenseCPro [P]21543
contig referenceTLeu [L]21543
173937134661 rs372236185 N.D. YesmissenseTIle [I]21531
contig referenceCThr [T]21531
173937174657 rs148808854 0.000 YesmissenseTCys [C]11530
contig referenceCArg [R]11530
173937424632 rs142272833 0.001byClusterbyFreqWith1000GenomeData0.0005 YesmissenseTAsn [N]31521
contig referenceGLys [K]31521
173942664614 rs372388771 N.D. YessynonymousAThr [T]31515
contig referenceGThr [T]31515
173942694611 rs113282901 0.005byClusterbyFreqWith1000GenomeData0.0023 YessynonymousAAla [A]31514
contig referenceCAla [A]31514
173942884592 rs376693586 N.D. YesmissenseTMet [M]21508
contig referenceCThr [T]21508
173942894591 rs80075294 N.D.byCluster YesmissenseGAla [A]11508
missenseTSer [S]11508
contig referenceAThr [T]11508
173943004580 rs369681363 N.D. YesmissenseALys [K]21504
contig referenceTMet [M]21504
173943154565 rs140599332 0.001byFreq YesmissenseGSer [S]21499
contig referenceCThr [T]21499
173943254555 rs377696470 N.D. YesmissenseAMet [M]11496
contig referenceGVal [V]11496
173943294551 rs374853931 N.D. YessynonymousTAla [A]31494
contig referenceCAla [A]31494
173943344546 rs386576631 N.D. missenseTTrp [W]11493
contig referenceCArg [R]11493
173943374543 rs72559714 N.D. YesmissenseAThr [T]11492
contig referenceGAla [A]11492
173943474533 rs374880588 N.D. YessynonymousALeu [L]31488
contig referenceGLeu [L]31488
173943794501 rs72559715 N.D. YesmissenseAArg [R]11478
contig referenceGGly [G]11478
173943804500 rs145673861 0.000 YessynonymousTGly [G]31477
contig referenceCGly [G]31477
173943864494 rs368134766 N.D. YessynonymousGThr [T]31475
contig referenceAThr [T]31475
173951724480 rs72559716 N.D. YesmissenseAAsn [N]11471
contig referenceGAsp [D]11471
173951734479 rs369810811 N.D. YessynonymousTLeu [L]31470
contig referenceCLeu [L]31470
173952144438 rs72559717 N.D. YesmissenseAThr [T]11457
contig referenceGAla [A]11457
173952414411 rs374703754 N.D. YesmissenseGGly [G]11448
contig referenceASer [S]11448
173956784308 rs373478721 N.D. YessynonymousAPro [P]31413
contig referenceGPro [P]31413
173956904296 rs146584228 0.001byClusterWith1000GenomeData0.0005 YessynonymousTIle [I]31409
contig referenceCIle [I]31409
173958654254 rs370459854 N.D. YessynonymousAVal [V]31395
contig referenceGVal [V]31395
173958934226 rs72559718 N.D. YesmissenseTPhe [F]21386
contig referenceCSer [S]21386
173959284191 rs75218493 N.D. YessynonymousTIle [I]31374
contig referenceCIle [I]31374
173969304174 rs757110 0.408byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.2856 YesmissenseTSer [S]11369
contig referenceGAla [A]11369
173969304174 rs386611540 N.D. missenseAThr [T]11369
missenseCPro [P]11369
contig referenceGAla [A]11369
173969434161 rs150151029 0.000 YessynonymousTVal [V]31364
contig referenceCVal [V]31364
173969454159 rs138642224 0.002byClusterbyFreq YesmissenseAIle [I]11364
contig referenceGVal [V]11364
173969594145 rs377686759 N.D. YesmissenseTLeu [L]21359
contig referenceCPro [P]21359
173969764128 rs374602183 N.D. YessynonymousTTyr [Y]31353
contig referenceCTyr [Y]31353
173969844120 rs149331388 0.000 YesmissenseAMet [M]11351
contig referenceGVal [V]11351
173970274077 rs67767715 0.010byFreq YesmissenseCAsn [N]31336
contig referenceGLys [K]31336
173971974053 rs368419322 N.D. YessynonymousTLeu [L]31328
contig referenceCLeu [L]31328
173972004050 rs1129799 N.D. YessynonymousAGly [G]31327
contig referenceGGly [G]31327
173972054045 rs200563930 0.001byClusterWith1000GenomeData0.0005 YesmissenseALys [K]11326
contig referenceGGlu [E]11326
173972064044 rs138141427 0.004byClusterbyFreqWith1000GenomeData0.0018 YessynonymousTTyr [Y]31325
contig referenceCTyr [Y]31325
173972214029 rs137868047 0.000 YessynonymousTThr [T]31320
contig referenceCThr [T]31320
173972294021 rs111603608 0.500 YessynonymousTLeu [L]11318
contig referenceCLeu [L]11318
173972434007 rs372153432 N.D. YesmissenseAHis [H]21313
contig referenceGArg [R]21313
173972633987 rs372186045 N.D. YessynonymousGLeu [L]31306
contig referenceCLeu [L]31306
173972703980 rs374472430 N.D. YesmissenseCThr [T]21304
contig referenceTMet [M]21304
173972933957 rs147153615 0.000 YesmissenseTCys [C]31296
contig referenceGTrp [W]31296
173973043946 rs368710356 N.D. YesmissenseGAsp [D]11293
contig referenceTTyr [Y]11293
173976933927 rs377045545 N.D. YessynonymousTTyr [Y]31286
contig referenceCTyr [Y]31286
173976963924 rs56924677 0.500byClusterbyFreq YessynonymousTThr [T]31285
contig referenceCThr [T]31285
173977113909 rs377362378 N.D. YessynonymousAVal [V]31280
contig referenceGVal [V]31280
173977173903 rs140414060 0.001byFreq YessynonymousTGly [G]31278
contig referenceCGly [G]31278
173977323888 rs1799859 0.443byClusterbyFreqwithHapMapFreqWith1000GenomeData0.3306 YessynonymousAArg [R]31273
contig referenceGArg [R]31273
173977733847 rs374210402 N.D. YesmissenseAIle [I]11260
contig referenceCLeu [L]11260
173977743846 rs150679949 0.000 YessynonymousAVal [V]31259
contig referenceGVal [V]31259
173984113750 rs370636988 N.D. YessynonymousTLeu [L]31227
contig referenceCLeu [L]31227
173984303731 rs374298515 N.D. YesmissenseAGln [Q]21221
contig referenceGArg [R]21221
174026703710 rs367850779 N.D. YesmissenseAGln [Q]21214
contig referenceGArg [R]21214
174026713709 rs139964066 0.000byCluster YesmissenseTTrp [W]11214
contig referenceCArg [R]11214
174026993681 rs149861153 0.023byClusterbyFreqWith1000GenomeData0.0115 YessynonymousTAla [A]31204
contig referenceCAla [A]31204
174027083672 rs145874746 0.000 YessynonymousGSer [S]31201
contig referenceASer [S]31201
174027333647 rs139486832 0.001byClusterWith1000GenomeData0.0005 YesmissenseTVal [V]21193
contig referenceAAsp [D]21193
174045173621 rs144207158 0.001byClusterWith1000GenomeData0.0005 YessynonymousAAla [A]31184
contig referenceGAla [A]31184
174045323606 rs146574155 0.000 YessynonymousALys [K]31179
contig referenceGLys [K]31179
174045533585 rs142155036 0.000byCluster YessynonymousTIle [I]31172
contig referenceCIle [I]31172
174045543584 rs199626046 0.002 YesmissenseCThr [T]21172
contig referenceTIle [I]21172
174045593579 rs1048091 N.D. YessynonymousCLeu [L]31170
contig referenceGLeu [L]31170
174045773561 rs376769951 N.D. YessynonymousTLeu [L]31164
contig referenceCLeu [L]31164
174045833555 rs151203959 0.001byFreq YessynonymousTVal [V]31162
contig referenceGVal [V]31162
174046043534 rs368044193 N.D. YessynonymousGVal [V]31155
contig referenceCVal [V]31155
174046303508 rs372257088 N.D. YessynonymousTLeu [L]11147
contig referenceCLeu [L]11147
174046333505 rs56945577 N.D. YesmissenseTSer [S]11146
contig referenceAThr [T]11146
174046343504 rs371089976 N.D. YessynonymousTSer [S]31145
contig referenceCSer [S]31145
174046563482 rs201351976 N.D.byCluster YesmissenseTMet [M]21138
contig referenceCThr [T]21138
174055153447 rs375846829 N.D. YessynonymousCSer [S]31126
contig referenceTSer [S]31126
174055483414 rs186634115 0.001byClusterWith1000GenomeData0.0005 YessynonymousAThr [T]31115
contig referenceGThr [T]31115
174055633399 rs140311333 0.000 YessynonymousAArg [R]31110
contig referenceGArg [R]31110
174066443376 rs144348011 0.001byClusterWith1000GenomeData0.0005 synonymousAArg [R]11103
contig referenceCArg [R]11103
174066593361 rs150368331 0.000 missenseTCys [C]11098
contig referenceCArg [R]11098
174067013319 rs138204865 0.000 YesmissenseGAla [A]11084
contig referenceAThr [T]11084
174067233297 rs368587840 N.D. YessynonymousTVal [V]31076
contig referenceGVal [V]31076
174067483272 rs139524121 0.002byClusterbyFreqWith1000GenomeData0.0009 YesmissenseTMet [M]21068
contig referenceCThr [T]21068
174067833237 rs1799860 N.D. YessynonymousTCys [C]31056
contig referenceCCys [C]31056
174068943225 rs145811577 0.000 YessynonymousTLeu [L]31052
contig referenceCLeu [L]31052
174069333186 rs199723884 0.002With1000GenomeData0.0009 synonymousTSer [S]31039
contig referenceCSer [S]31039
174069383181 rs367974472 N.D. missenseAAsn [N]11038
contig referenceGAsp [D]11038
174069393180 rs201662945 0.001byClusterWith1000GenomeData0.0005 synonymousTThr [T]31037
contig referenceCThr [T]31037
174069453174 rs138722795 0.000 synonymousALys [K]31035
contig referenceGLys [K]31035
174069513168 rs200693100 0.001With1000GenomeData0.0005 synonymousALeu [L]31033
contig referenceGLeu [L]31033
174069633156 rs376413488 N.D. synonymousAIle [I]31029
contig referenceCIle [I]31029
174069873132 rs372504462 N.D. synonymousALeu [L]31021
contig referenceCLeu [L]31021
174070073112 rs72559719 N.D. missenseAMet [M]11015
contig referenceCLeu [L]11015
174070093110 rs67706538 0.005byFreq nonsenseA21014
contig referenceTLeu [L]21014
174070113108 rs17846762 0.003byClusterwithHapMapFreqWith1000GenomeData0.0014 synonymousASer [S]31013
contig referenceGSer [S]31013
174070113108 rs386544763 N.D. synonymousASer [S]31013
contig referenceGSer [S]31013
174070123107 rs72559720 N.D. missenseGTrp [W]21013
contig referenceCSer [S]21013
174070323087 rs149279510 0.000 synonymousTSer [S]31006
contig referenceCSer [S]31006
174070493070 rs144329652 0.000 missenseAThr [T]11001
contig referenceGAla [A]11001
174070503069 rs192863214 0.002byClusterWith1000GenomeData0.0009 synonymousTCys [C]31000
contig referenceCCys [C]31000
174070733046 rs148342166 0.000 missenseAThr [T]1993
contig referenceGAla [A]1993
174070753044 rs201499958 N.D.byCluster missenseAHis [H]2992
missenseCPro [P]2992
contig referenceGArg [R]2992
174070773042 rs369865194 N.D. synonymousAGln [Q]3991
contig referenceGGln [Q]3991
174070923027 rs58820146 0.005byClusterbyFreqWith1000GenomeData0.0028 synonymousASer [S]3986
contig referenceGSer [S]3986
174071222997 rs370703902 N.D. synonymousCAla [A]3976
contig referenceAAla [A]3976
174074072936 rs72559721 N.D. missenseTPhe [F]2956
contig referenceCSer [S]2956
174074112932 rs200877883 0.001With1000GenomeData0.0005 synonymousTLeu [L]1955
contig referenceCLeu [L]1955
174084392842 rs372968932 N.D. missenseCGln [Q]1925
contig referenceGGlu [E]1925
174105192760 rs201609520 0.002 YessynonymousTAsp [D]3897
contig referenceCAsp [D]3897
174106002679 rs111967655 0.002byClusterbyFreq YessynonymousTAla [A]3870
contig referenceCAla [A]3870
174126782613 rs144200345 0.000 YessynonymousTAsn [N]3848
contig referenceCAsn [N]3848
174126842607 rs73423037 0.015byClusterbyFreqWith1000GenomeData0.0078 YessynonymousTHis [H]3846
contig referenceCHis [H]3846
174127052586 rs184329953 0.001byClusterWith1000GenomeData0.0005 YessynonymousTVal [V]3839
contig referenceGVal [V]3839
174127162575 rs72559722 N.D. YesnonsenseT1836
contig referenceCArg [R]1836
174127222569 rs140068774 0.000 YesmissenseTCys [C]1834
contig referenceCArg [R]1834
174127372554 rs1805036 0.186byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1038 YessynonymousTLeu [L]1829
contig referenceCLeu [L]1829
174127372554 rs386545685 N.D. missenseAMet [M]1829
missenseGVal [V]1829
contig referenceCLeu [L]1829
174133952543 rs375172221 N.D. YesmissenseAGln [Q]2825
contig referenceGArg [R]2825
174134162522 rs111228378 0.500 YesmissenseGGly [G]2818
contig referenceAAsp [D]2818
174134212517 rs149628344 0.001byClusterWith1000GenomeData0.0005 YessynonymousCHis [H]3816
contig referenceTHis [H]3816
174134352503 rs146916682 0.001byClusterWith1000GenomeData0.0005 YesmissenseAAsn [N]1812
contig referenceGAsp [D]1812
174134472491 rs202189540 0.001byClusterWith1000GenomeData0.0005 YesmissenseALys [K]1808
contig referenceCGln [Q]1808
174134622476 rs369426518 N.D. YesmissenseALys [K]1803
contig referenceGGlu [E]1803
174134662472 rs148863748 0.000 YessynonymousAVal [V]3801
contig referenceCVal [V]3801
174134702468 rs377742560 N.D. YesmissenseCThr [T]2800
contig referenceTMet [M]2800
174145132458 rs142620721 0.000byCluster YesmissenseTTrp [W]1797
contig referenceCArg [R]1797
174145982373 rs199541853 0.001With1000GenomeData0.0005 YessynonymousTPro [P]3768
contig referenceCPro [P]3768
174146002371 rs374477094 N.D. YesmissenseTSer [S]1768
contig referenceCPro [P]1768
174153182346 rs1801261 0.034byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0174 YessynonymousTThr [T]3759
contig referenceCThr [T]3759
174169322322 rs142315209 0.000 YessynonymousTPro [P]3751
contig referenceCPro [P]3751
174169502304 rs200708414 0.001byClusterWith1000GenomeData0.0005 YesmissenseAArg [R]3745
synonymousTSer [S]3745
contig referenceCSer [S]3745
174270622278 rs376206979 N.D. YesmissenseAIle [I]1737
contig referenceGVal [V]1737
174270652275 rs191697443 0.001byClusterWith1000GenomeData0.0005 YesmissenseTSer [S]1736
contig referenceGAla [A]1736
174270942246 rs145747227 0.000byCluster YesmissenseTVal [V]2726
contig referenceCAla [A]2726
174270952245 rs138687850 0.002byClusterbyFreqWith1000GenomeData0.0009 YesmissenseAThr [T]1726
contig referenceGAla [A]1726
174270962244 rs140109097 0.001byClusterWith1000GenomeData0.0005 YessynonymousTAla [A]3725
contig referenceCAla [A]3725
174271082232 rs201724038 0.002 YessynonymousASer [S]3721
contig referenceGSer [S]3721
174271192221 rs200286058 0.003 YesmissenseASer [S]1718
contig referenceGGly [G]1718
174271492191 rs201240787 0.002 YessynonymousTLeu [L]1708
contig referenceCLeu [L]1708
174278792173 rs199732808 N.D. YesmissenseTCys [C]1702
contig referenceCArg [R]1702
174278812170 rs72559724 N.D. Yesframe shiftTSer [S]1702
contig reference-Arg [R]1702
174279232129 rs150316347 0.001byClusterWith1000GenomeData0.0005 missenseTMet [M]2687
contig referenceCThr [T]2687
174279412111 rs137984699 0.000 missenseCThr [T]2681
contig referenceTIle [I]2681
174283052093 rs367780278 N.D. missenseTVal [V]2675
contig referenceAAsp [D]2675
174283072091 rs371724951 N.D. synonymousCAla [A]3674
contig referenceTAla [A]3674
174283282070 rs201425938 0.002 synonymousGVal [V]3667
contig referenceCVal [V]3667
174283322066 rs200670709 N.D.With1000GenomeData missenseGArg [R]2666
contig referenceTLeu [L]2666
174283362062 rs199784172 0.001With1000GenomeData0.0005 missenseTCys [C]1665
contig referenceASer [S]1665
174283562042 rs149400972 0.000 missenseAAsp [D]2658
contig referenceGGly [G]2658
174283622036 rs368018083 N.D. missenseCSer [S]2656
contig referenceGCys [C]2656
174283712027 rs146378237 0.000 missenseAGln [Q]2653
contig referenceGArg [R]2653
174283722026 rs372230762 N.D. missenseTTrp [W]1653
contig referenceCArg [R]1653
174283822016 rs1799858 0.268byClusterbyFreqWith1000GenomeData0.1593 missenseCAsn [N]3649
missenseTAsn [N]3649
synonymousALys [K]3649
contig referenceGLys [K]3649
174283872011 rs373175144 N.D. missenseTCys [C]1648
contig referenceCArg [R]1648
174283962002 rs376602764 N.D. missenseAIle [I]1645
contig referenceGVal [V]1645
174284031995 rs75376282 0.005byClusterbyFreqWith1000GenomeData0.0028 synonymousGPro [P]3642
contig referenceCPro [P]3642
174285681989 rs146156937 0.002byClusterbyFreq synonymousAAla [A]3640
contig referenceGAla [A]3640
174285691988 rs369049969 N.D. missenseTVal [V]2640
contig referenceCAla [A]2640
174285801977 rs372567722 N.D. missenseAArg [R]3636
contig referenceCSer [S]3636
174285971960 rs72559725 N.D. frame shift-Leu [L]1631
contig referenceCPro [P]1631
174286021955 rs375862506 N.D. missenseTLeu [L]2629
contig referenceCPro [P]2629
174286101947 rs373130710 N.D. synonymousGPro [P]3626
contig referenceCPro [P]3626
174286141943 rs148709148 0.001byClusterbyFreqWith1000GenomeData0.0005 missenseTVal [V]2625
contig referenceCAla [A]2625
174286301927 rs58241708 0.005byClusterbyFreqWith1000GenomeData0.0028 missenseTCys [C]1620
contig referenceCArg [R]1620
174286581899 rs150839950 0.000 synonymousGLeu [L]3610
contig referenceALeu [L]3610
174286691888 rs377405677 N.D. missenseAMet [M]1607
contig referenceGVal [V]1607
174286701887 rs202207978 N.D.byCluster synonymousTSer [S]3606
contig referenceCSer [S]3606
174308311869 rs371181016 N.D. synonymousTThr [T]3600
contig referenceCThr [T]3600
174308391861 rs139328569 0.000 nonsenseT1598
contig referenceCArg [R]1598
174308581842 rs72559726 N.D. missenseGLeu [L]3591
contig referenceCPhe [F]3591
174309081792 rs149930713 0.001byClusterbyFreq missenseAMet [M]1575
contig referenceGVal [V]1575
174309161784 rs374538778 N.D. missenseTLeu [L]2572
contig referenceCSer [S]2572
174309231777 rs201123779 0.002 missenseAAsn [N]1570
contig referenceGAsp [D]1570
174309241776 rs147623093 0.004byClusterbyFreqWith1000GenomeData0.0018 synonymousTAla [A]3569
contig referenceCAla [A]3569
174309451755 rs1799857 0.473byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3848 missenseAGln [Q]3562
missenseGGln [Q]3562
synonymousTHis [H]3562
contig referenceCHis [H]3562
174309531747 rs4148619 0.009byClusterbyFreqWith1000GenomeData0.0046 missenseCLeu [L]1560
missenseCLeu [L]1560
missenseTLeu [L]1560
missenseTLeu [L]1560
contig referenceGVal [V]1560
contig referenceGVal [V]1560
174322131731 rs368782953 N.D. synonymousGAla [A]3554
contig referenceTAla [A]3554
174427301689 rs199822807 N.D. synonymousTThr [T]3540
contig referenceCThr [T]3540
174427381681 rs374817078 N.D. missenseGVal [V]1538
contig referenceAIle [I]1538
174427621657 rs377449772 N.D. missenseTLeu [L]1530
contig referenceAMet [M]1530
174427731646 rs144481621 0.000 missenseAHis [H]2526
contig referenceGArg [R]2526
174427861633 rs374624209 N.D. missenseAMet [M]1522
contig referenceGVal [V]1522
174427881631 rs368114790 N.D. missenseAGln [Q]2521
contig referenceGArg [R]2521
174428271592 rs72559727 N.D. missenseCPro [P]2508
contig referenceTLeu [L]2508
174428371582 rs200977997 0.002 missenseTCys [C]1505
contig referenceGGly [G]1505
174428381581 rs148811815 0.000 synonymousTArg [R]3504
contig referenceCArg [R]3504
174428391580 rs143451249 0.000 missenseAHis [H]2504
contig referenceGArg [R]2504
174428401579 rs201815564 0.001With1000GenomeData0.0005 missenseTCys [C]1504
contig referenceCArg [R]1504
174428491570 rs372307320 N.D. missenseALys [K]1501
contig referenceGGlu [E]1501
174428641555 rs150956385 0.000 synonymousTLeu [L]1496
contig referenceCLeu [L]1496
174431801534 rs374289323 N.D. synonymousTLeu [L]1489
contig referenceCLeu [L]1489
174431881526 rs376080397 N.D.byCluster missenseAGln [Q]2486
contig referenceGArg [R]2486
174432111503 rs200303681 0.001With1000GenomeData0.0005 synonymousTAla [A]3478
contig referenceCAla [A]3478
174432491465 rs369296651 N.D. missenseAIle [I]1466
contig referenceGVal [V]1466
174432561458 rs373626245 N.D. synonymousGGly [G]3463
contig referenceAGly [G]3463
174432601454 rs202183744 0.001With1000GenomeData0.0005 missenseCThr [T]2462
contig referenceTIle [I]2462
174432611453 rs117874766 N.D.byClusterbyFreqWith1000GenomeData missenseGVal [V]1462
contig referenceAIle [I]1462
174432791435 rs200257654 0.002 missenseGVal [V]1456
contig referenceCLeu [L]1456
174433021412 rs200528170 0.001With1000GenomeData0.0005 missenseTVal [V]2448
contig referenceGGly [G]2448
174485671350 rs112488640 0.500 synonymousAGln [Q]3427
contig referenceGGln [Q]3427
174485791338 rs370169777 N.D. synonymousTIle [I]3423
contig referenceCIle [I]3423
174485961321 rs67254669 0.004byClusterbyFreqWith1000GenomeData0.0018 missenseCArg [R]1418
contig referenceTCys [C]1418
174486321285 rs72559728 N.D. missenseGAsp [D]1406
contig referenceAAsn [N]1406
174486361281 rs138386829 0.000 synonymousTThr [T]3404
contig referenceCThr [T]3404
174486591258 rs199763382 0.001With1000GenomeData0.0005 missenseCHis [H]1397
contig referenceAAsn [N]1397
174486701247 rs377104807 N.D. missenseGSer [S]2393
contig referenceCThr [T]2393
174531371227 rs60824529 0.024byClusterbyFreqWith1000GenomeData0.0124 synonymousTAsn [N]3386
contig referenceCAsn [N]3386
174532281136 rs59852838 0.029byCluster missenseGCys [C]2356
contig referenceATyr [Y]2356
174532311133 rs368655419 N.D. missenseTVal [V]2355
contig referenceCAla [A]2355
174532321132 rs145136257 0.001byClusterbyFreq missenseAThr [T]1355
contig referenceGAla [A]1355
174532721092 rs199592045 0.002 synonymousTLeu [L]3341
contig referenceCLeu [L]3341
174605091059 rs45522932 N.D. synonymousAGlu [E]3330
contig referenceGGlu [E]3330
174605541014 rs138521721 0.005byClusterbyFreqWith1000GenomeData0.0028 synonymousTAla [A]3315
contig referenceCAla [A]3315
174605651003 rs72559729 N.D. missenseAMet [M]1312
contig referenceCLeu [L]1312
17460573995 rs149347593 0.001byFreq missenseGGly [G]2309
contig referenceCAla [A]2309
17460605963 rs375094504 N.D. synonymousAArg [R]3298
contig referenceCArg [R]3298
17460607961 rs144705160 0.000 missenseTCys [C]1298
contig referenceCArg [R]1298
17460609959 rs371802112 N.D. missenseTMet [M]2297
contig referenceGArg [R]2297
17460616952 rs142651082 0.001byClusterWith1000GenomeData0.0005 missenseAIle [I]1295
contig referenceTPhe [F]1295
17460628940 rs199865744 0.005With1000GenomeData0.0028 missenseTPhe [F]1291
contig referenceCLeu [L]1291
17460645923 rs199616008 N.D.byCluster missenseAGln [Q]2285
contig referenceGArg [R]2285
17460675893 rs185040406 0.001byClusterWith1000GenomeData0.0005 missenseAGln [Q]2275
contig referenceGArg [R]2275
17460676892 rs201907204 0.001With1000GenomeData0.0005 missenseTTrp [W]1275
contig referenceCArg [R]1275
17461587887 rs200497718 0.001With1000GenomeData0.0005 missenseGArg [R]2273
contig referenceAGln [Q]2273
17461599875 rs372930264 N.D. missenseGGly [G]2269
contig referenceCAla [A]2269
17461601873 rs187271585 0.001byClusterWith1000GenomeData0.0005 synonymousAGlu [E]3268
contig referenceGGlu [E]3268
17461637837 rs1048093 N.D.byClusterwithHapMapFreq synonymousTAla [A]3256
contig referenceCAla [A]3256
17461638836 rs1048094 N.D.byCluster missenseTVal [V]2256
contig referenceCAla [A]2256
17461662812 rs376005080 N.D. missenseAGln [Q]2248
contig referenceGArg [R]2248
17461663811 rs72559730 0.000byCluster nonsenseT1248
contig referenceCArg [R]1248
17461682792 rs147276708 0.000 synonymousTHis [H]3241
contig referenceCHis [H]3241
17461716758 rs140476117 0.000byCluster missenseGCys [C]2230
contig referenceATyr [Y]2230
17461731743 rs386513206 N.D. missenseCPro [P]2225
contig referenceTLeu [L]2225
17461758716 rs199702708 N.D.byCluster missenseAHis [H]2216
contig referenceGArg [R]2216
17461776698 rs188669612 N.D. missenseAGln [Q]2210
missenseCPro [P]2210
contig referenceTLeu [L]2210
17461795679 rs376754856 N.D. missenseAMet [M]1204
contig referenceGVal [V]1204
17463465621 rs151211613 0.000 synonymousTLeu [L]3184
contig referenceCLeu [L]3184
17463476610 rs368894930 N.D. missenseTLeu [L]1181
contig referenceAMet [M]1181
17463513573 rs139224499 0.000 synonymousTArg [R]3168
contig referenceCArg [R]3168
17463518568 rs1048096 N.D. missenseGVal [V]1167
contig referenceCLeu [L]1167
17463522564 rs369136858 N.D. synonymousASer [S]3165
contig referenceGSer [S]3165
17463531555 rs149872185 0.001byClusterWith1000GenomeData0.0005 synonymousTIle [I]3162
contig referenceCIle [I]3162
17463548538 rs1048098 N.D.byClusterwithHapMapFreq missenseCLeu [L]1157
contig referenceTPhe [F]1157
17463594492 rs116132921 0.020byClusterbyFreqWith1000GenomeData0.0101 synonymousAVal [V]3141
synonymousCVal [V]3141
synonymousTVal [V]3141
contig referenceGVal [V]3141
17463603483 rs372766371 N.D. synonymousTAla [A]3138
contig referenceCAla [A]3138
17470110472 rs368450282 N.D. missenseGVal [V]1135
contig referenceCLeu [L]1135
17470120462 rs372524091 N.D. synonymousTAsn [N]3131
contig referenceCAsn [N]3131
17470121461 rs76030764 0.001byClusterWith1000GenomeData0.0005 missenseGSer [S]2131
contig referenceAAsn [N]2131
17470138444 rs60637558 0.006byCluster missenseGGln [Q]3125
contig referenceCHis [H]3125
17470159423 rs137873871 0.007byClusterbyFreqWith1000GenomeData0.0037 synonymousTVal [V]3118
contig referenceCVal [V]3118
17470161421 rs144641450 0.000 missenseAIle [I]1118
contig referenceGVal [V]1118
17470167415 rs72559731 N.D. missenseCPro [P]1116
contig referenceGAla [A]1116
17470170412 rs146695489 0.000 missenseGVal [V]1115
contig referenceAMet [M]1115
17470183399 rs8192695 0.103byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0546 synonymousTAla [A]3110
contig referenceCAla [A]3110
17470183399 rs386616301 N.D. synonymousTAla [A]3110
contig referenceCAla [A]3110
17470203379 rs10400391 N.D.withHapMapFreq missenseGVal [V]1104
contig referenceCLeu [L]1104
17470215367 rs200687571 0.001With1000GenomeData0.0005 missenseALys [K]1100
contig referenceGGlu [E]1100
17474946299 rs72559732 N.D. missenseGArg [R]277
contig referenceTLeu [L]277
17474947298 rs72559733 N.D. missenseGVal [V]177
contig referenceCLeu [L]177
17474955290 rs72559734 N.D. missenseAGln [Q]274
contig referenceGArg [R]274
17474956289 rs201682634 0.001With1000GenomeData0.0005 missenseTTrp [W]174
contig referenceCArg [R]174
17474969276 rs1048099 0.494byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.4440 synonymousAPro [P]369
synonymousCPro [P]369
synonymousGPro [P]369
contig referenceTPro [P]369
17476651195 rs369059273 N.D. synonymousTIle [I]342
contig referenceCIle [I]342
17476672174 rs199925058 0.002byCluster synonymousAPro [P]335
contig referenceGPro [P]335
17476675171 rs189746511 0.001byClusterWith1000GenomeData0.0005 synonymousAVal [V]334
contig referenceGVal [V]334
17476687159 rs377209579 N.D. synonymousAAla [A]330
contig referenceGAla [A]330
17476715131 rs200670692 N.D. missenseAAsp [D]221
contig referenceTVal [V]221

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