NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)
|
rs4930388
|
0.98751
|
NM_006946.4(SPTBN2):c.657-47G>A
|
rs615536
|
0.89277
|
NM_006946.4(SPTBN2):c.2816+23A>G
|
rs532439
|
0.72382
|
NM_006946.4(SPTBN2):c.5950-282G>A
|
rs508996
|
0.66926
|
NM_006946.4(SPTBN2):c.6035-67A>G
|
rs2276138
|
0.42368
|
NM_006946.4(SPTBN2):c.5565+59G>A
|
rs12804382
|
0.41858
|
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)
|
rs506028
|
0.15920
|
NM_006946.4(SPTBN2):c.3573+228A>T
|
rs79496339
|
0.11320
|
NM_006946.4(SPTBN2):c.5565+79A>G
|
rs76228630
|
0.11246
|
NM_006946.4(SPTBN2):c.772+311A>C
|
rs77125470
|
0.10548
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=)
|
rs639938
|
0.06187
|
NM_006946.4(SPTBN2):c.1074-240G>A
|
rs645307
|
0.04847
|
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=)
|
rs623022
|
0.04821
|
NM_006946.4(SPTBN2):c.3776+62C>T
|
rs116754495
|
0.03439
|
NM_006946.4(SPTBN2):c.6897-89T>C
|
rs78894466
|
0.02184
|
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His)
|
rs35532855
|
0.01604
|
NM_006946.4(SPTBN2):c.2473= (p.Ser825=)
|
rs4930388
|
0.01249
|
NM_006946.4(SPTBN2):c.885+5T>C
|
rs114331192
|
0.01156
|
NM_006946.4(SPTBN2):c.234G>A (p.Val78=)
|
rs78309877
|
0.01155
|
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=)
|
rs34275473
|
0.01154
|
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)
|
rs61741217
|
0.00966
|
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)
|
rs34117933
|
0.00956
|
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)
|
rs114788199
|
0.00819
|
NM_006946.4(SPTBN2):c.4985+11C>T
|
rs11227572
|
0.00707
|
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00560
|
NM_006946.4(SPTBN2):c.6723-14C>T
|
rs186232313
|
0.00525
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00477
|
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=)
|
rs150696057
|
0.00458
|
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys)
|
rs115062978
|
0.00441
|
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys)
|
rs36054877
|
0.00433
|
NM_006946.4(SPTBN2):c.157+16G>A
|
rs188230336
|
0.00404
|
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=)
|
rs74909073
|
0.00352
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)
|
rs145249947
|
0.00245
|
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=)
|
rs150080880
|
0.00239
|
NM_006946.4(SPTBN2):c.1221C>T (p.His407=)
|
rs143596433
|
0.00212
|
NM_006946.4(SPTBN2):c.6896+11G>A
|
rs141969559
|
0.00203
|
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)
|
rs144939155
|
0.00173
|
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=)
|
rs35463342
|
0.00168
|
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)
|
rs35370566
|
0.00168
|
NM_006946.4(SPTBN2):c.3111C>T (p.Asn1037=)
|
rs149124496
|
0.00145
|
NM_006946.4(SPTBN2):c.5566-20T>G
|
rs367743617
|
0.00145
|
NM_006946.4(SPTBN2):c.1654-13G>A
|
rs200980512
|
0.00134
|
NM_006946.4(SPTBN2):c.1807+13C>T
|
rs151122248
|
0.00132
|
NM_006946.4(SPTBN2):c.6375-16C>G
|
rs376626638
|
0.00112
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00102
|
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152
|
0.00100
|
NM_006946.4(SPTBN2):c.4985+12G>A
|
rs199692345
|
0.00098
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
NM_006946.4(SPTBN2):c.2631G>C (p.Gly877=)
|
rs77593272
|
0.00087
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=)
|
rs143948660
|
0.00081
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
NM_006946.4(SPTBN2):c.590A>G (p.Asn197Ser)
|
rs148154681
|
0.00057
|
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)
|
rs141683210
|
0.00056
|
NM_006946.4(SPTBN2):c.5139C>T (p.Arg1713=)
|
rs146602750
|
0.00056
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=)
|
rs146526805
|
0.00053
|
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=)
|
rs141277535
|
0.00051
|
NM_006946.4(SPTBN2):c.2678+12A>C
|
rs577075100
|
0.00051
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00036
|
NM_006946.4(SPTBN2):c.1764G>A (p.Arg588=)
|
rs116534626
|
0.00036
|
NM_006946.4(SPTBN2):c.2319C>T (p.Pro773=)
|
rs149067190
|
0.00036
|
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser)
|
rs139077453
|
0.00035
|
NM_006946.4(SPTBN2):c.6562G>A (p.Gly2188Ser)
|
rs200876976
|
0.00031
|
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=)
|
rs146007976
|
0.00024
|
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)
|
rs376219874
|
0.00021
|
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln)
|
rs749281906
|
0.00020
|
NM_006946.4(SPTBN2):c.3516C>T (p.His1172=)
|
rs149829140
|
0.00019
|
NM_006946.4(SPTBN2):c.1676T>C (p.Leu559Pro)
|
rs780084962
|
0.00018
|
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=)
|
rs145112518
|
0.00018
|
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=)
|
rs143537378
|
0.00016
|
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=)
|
rs201752194
|
0.00016
|
NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp)
|
rs556784868
|
0.00016
|
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=)
|
rs140748364
|
0.00016
|
NM_006946.4(SPTBN2):c.6813C>T (p.His2271=)
|
rs545082298
|
0.00016
|
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=)
|
rs201821131
|
0.00016
|
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys)
|
rs141021167
|
0.00014
|
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=)
|
rs142480868
|
0.00014
|
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=)
|
rs145930414
|
0.00014
|
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=)
|
rs377439463
|
0.00012
|
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=)
|
rs572061488
|
0.00012
|
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=)
|
rs142489577
|
0.00012
|
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=)
|
rs199624385
|
0.00012
|
NM_006946.4(SPTBN2):c.2844C>T (p.Asp948=)
|
rs753959566
|
0.00011
|
NM_006946.4(SPTBN2):c.4632C>T (p.Ile1544=)
|
rs139176086
|
0.00011
|
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser)
|
rs375849761
|
0.00011
|
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=)
|
rs150837212
|
0.00009
|
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=)
|
rs368022952
|
0.00009
|
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=)
|
rs141552965
|
0.00009
|
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=)
|
rs777698637
|
0.00008
|
NM_006946.4(SPTBN2):c.2574C>T (p.Leu858=)
|
rs559959631
|
0.00007
|
NM_006946.4(SPTBN2):c.1782C>T (p.Ala594=)
|
rs377312636
|
0.00006
|
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln)
|
rs758312194
|
0.00006
|
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=)
|
rs768135548
|
0.00006
|
NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=)
|
rs773474294
|
0.00006
|
NM_006946.4(SPTBN2):c.6826G>A (p.Val2276Ile)
|
rs368541668
|
0.00006
|
NM_006946.4(SPTBN2):c.1245C>A (p.Thr415=)
|
rs146719338
|
0.00005
|
NM_006946.4(SPTBN2):c.3832C>T (p.Arg1278Trp)
|
rs373743022
|
0.00005
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
NM_006946.4(SPTBN2):c.6386G>A (p.Arg2129Gln)
|
rs777143650
|
0.00005
|
NM_006946.4(SPTBN2):c.4448G>A (p.Arg1483His)
|
rs371470159
|
0.00004
|
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met)
|
rs200189497
|
0.00004
|
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp)
|
rs761960627
|
0.00004
|
NM_006946.4(SPTBN2):c.7052G>A (p.Arg2351Gln)
|
rs367554726
|
0.00004
|
NM_006946.4(SPTBN2):c.2817-8G>T
|
rs142540439
|
0.00003
|
NM_006946.4(SPTBN2):c.3318A>G (p.Gln1106=)
|
rs576040719
|
0.00003
|
NM_006946.4(SPTBN2):c.4920C>T (p.Tyr1640=)
|
rs562923443
|
0.00003
|
NM_006946.4(SPTBN2):c.6796G>A (p.Ala2266Thr)
|
rs138457770
|
0.00003
|
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)
|
rs764447133
|
0.00002
|
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=)
|
rs747355437
|
0.00002
|
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys)
|
rs771402351
|
0.00001
|
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=)
|
rs779091056
|
0.00001
|
NM_006946.4(SPTBN2):c.3873G>A (p.Lys1291=)
|
rs759645170
|
0.00001
|
NM_006946.4(SPTBN2):c.4098C>T (p.Asp1366=)
|
rs368795514
|
0.00001
|
NM_006946.4(SPTBN2):c.4279-8G>A
|
rs369614446
|
0.00001
|
NM_006946.4(SPTBN2):c.6502-9C>T
|
rs545190212
|
0.00001
|
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=)
|
rs372297351
|
0.00001
|
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=)
|
rs1456985458
|
0.00001
|
GRCh37/hg19 11q13.2(chr11:66456590-66475184)x1
|
|
|
GRCh37/hg19 11q13.2(chr11:66457639-66475184)x1
|
|
|
GRCh37/hg19 11q13.2(chr11:66468173-66475184)x1
|
|
|
NM_006946.4(SPTBN2):c.1073+188del
|
rs55908905
|
|
NM_006946.4(SPTBN2):c.1074-176AAAAT[2]
|
rs112826691
|
|
NM_006946.4(SPTBN2):c.1202G>A (p.Arg401Gln)
|
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1351-7G>T
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1455C>T (p.Asp485=)
|
|
|
NM_006946.4(SPTBN2):c.1740C>T (p.Ile580=)
|
|
|
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)
|
rs776570497
|
|
NM_006946.4(SPTBN2):c.1896G>A (p.Ala632=)
|
|
|
NM_006946.4(SPTBN2):c.1907G>A (p.Arg636Gln)
|
|
|
NM_006946.4(SPTBN2):c.2134C>T (p.His712Tyr)
|
|
|
NM_006946.4(SPTBN2):c.2334C>T (p.Asp778=)
|
|
|
NM_006946.4(SPTBN2):c.2678+50G>T
|
rs3741359
|
|
NM_006946.4(SPTBN2):c.2745C>T (p.Ala915=)
|
|
|
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln)
|
rs147327184
|
|
NM_006946.4(SPTBN2):c.2831G>A (p.Arg944Gln)
|
|
|
NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=)
|
rs141552726
|
|
NM_006946.4(SPTBN2):c.309+36T>C
|
rs12805133
|
|
NM_006946.4(SPTBN2):c.3558C>T (p.Gly1186=)
|
|
|
NM_006946.4(SPTBN2):c.4535G>A (p.Ser1512Asn)
|
|
|
NM_006946.4(SPTBN2):c.4566C>T (p.Ser1522=)
|
rs149464236
|
|
NM_006946.4(SPTBN2):c.4667C>T (p.Ala1556Val)
|
|
|
NM_006946.4(SPTBN2):c.4923G>A (p.Ala1641=)
|
|
|
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=)
|
rs371267330
|
|
NM_006946.4(SPTBN2):c.5191-192_5191-189del
|
rs111691419
|
|
NM_006946.4(SPTBN2):c.5276A>G (p.Asn1759Ser)
|
|
|
NM_006946.4(SPTBN2):c.5305C>A (p.Arg1769=)
|
rs146455382
|
|
NM_006946.4(SPTBN2):c.5475G>A (p.Pro1825=)
|
rs34806527
|
|
NM_006946.4(SPTBN2):c.5950-103GAAA[3]
|
rs140939152
|
|
NM_006946.4(SPTBN2):c.6115G>A (p.Ala2039Thr)
|
|
|
NM_006946.4(SPTBN2):c.6123G>A (p.Leu2041=)
|
|
|
NM_006946.4(SPTBN2):c.6492C>T (p.Pro2164=)
|
|
|
NM_006946.4(SPTBN2):c.6527A>G (p.Asn2176Ser)
|
|
|
NM_006946.4(SPTBN2):c.6627G>A (p.Pro2209=)
|
|
|
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=)
|
rs750664912
|
|
NM_006946.4(SPTBN2):c.879T>C (p.Ile293=)
|
|
|
NM_006946.4(SPTBN2):c.914G>A (p.Arg305His)
|
|
|