ClinVar Miner

List of variants reported as benign for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 738
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_001322934.2(NFKB2):c.1821A>G (p.Ala607=) rs4919634 0.99720
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_001322934.2(NFKB2):c.1269A>G (p.Pro423=) rs4919633 0.98899
NM_003998.4(NFKB1):c.1143T>C (p.Ala381=) rs1609993 0.94257
NM_203447.4(DOCK8):c.2605+30T>C rs10758420 0.93542
NM_001322934.2(NFKB2):c.662-11C>T rs4919632 0.92540
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_203447.4(DOCK8):c.5961+133A>G rs10121936 0.83292
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_013314.4(BLNK):c.48-52T>A rs2168732 0.81631
NM_203447.4(DOCK8):c.*701G>A rs3780338 0.81268
NM_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_006846.4(SPINK5):c.2313+48G>A rs9325074 0.79044
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_006060.6(IKZF1):c.161-8198A>G rs10899750 0.76615
NM_021803.4(IL21):c.234C>T (p.Cys78=) rs4833837 0.76501
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_001282933.2(ZNF341):c.2505T>C (p.Ala835=) rs2626551 0.74572
NM_006846.4(SPINK5):c.82-31A>G rs1423001 0.74351
NM_182972.3(IRF2BP2):c.232T>C (p.Ser78Pro) rs7545855 0.74265
NM_203447.4(DOCK8):c.5356-48C>T rs10974467 0.71940
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_203447.4(DOCK8):c.4627-85T>C rs1329377 0.68824
NM_203447.4(DOCK8):c.894+74_894+75insC rs3831138 0.67848
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_000626.4(CD79B):c.366T>C (p.Cys122=) rs2070776 0.64196
NM_203447.4(DOCK8):c.895-84G>C rs2296825 0.63039
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=) rs3750319 0.60629
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_013314.4(BLNK):c.361+71G>A rs11188669 0.58528
NM_203447.4(DOCK8):c.4241+22T>C rs10217719 0.57971
NM_203447.4(DOCK8):c.5223+65G>C rs10758598 0.57714
NM_012092.4(ICOS):c.587-26T>G rs10172036 0.57656
NM_003200.5(TCF3):c.72+42T>C rs1860661 0.56456
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_006846.4(SPINK5):c.2241-26T>C rs3764926 0.56233
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_203447.4(DOCK8):c.2206-48A>G rs7020921 0.53910
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_006846.4(SPINK5):c.882+45_882+46insT rs76839946 0.51324
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_003809.3(TNFSF12):c.600G>C (p.Ala200=) rs3803798 0.50487
NM_001364905.1(LRBA):c.8317-341T>C rs2290847 0.49343
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_139276.3(STAT3):c.*1671C>T rs1053004 0.48332
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_006846.4(SPINK5):c.882+20A>G rs11958432 0.45982
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1302+19G>A rs2303068 0.44163
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1093-26C>T rs2303061 0.44132
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
NM_203447.4(DOCK8):c.4154-68T>A rs2297081 0.43281
NM_001006658.3(CR2):c.1776G>A (p.Leu592=) rs1048971 0.42495
NM_052945.4(TNFRSF13C):c.*120T>C rs7290134 0.41881
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_203447.4(DOCK8):c.895-65T>G rs2296826 0.36072
NM_012452.3(TNFRSF13B):c.445+25A>C rs2274892 0.35819
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_005026.5(PIK3CD):c.2348-30C>T rs11589267 0.33011
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_000061.3(BTK):c.*192G>A rs1057403 0.32006
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30786
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_182972.3(IRF2BP2):c.828G>T (p.Ala276=) rs4636 0.30211
NM_012092.4(ICOS):c.*2A>C rs10183087 0.29378
NM_012092.4(ICOS):c.*964T>C rs4404254 0.29332
NM_012092.4(ICOS):c.*1407G>A rs1559931 0.29190
NM_181523.3(PIK3R1):c.428-21G>A rs171649 0.28654
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_139276.3(STAT3):c.*1325A>G rs3744483 0.26908
NM_139276.3(STAT3):c.*2147A>G rs1053023 0.26115
NM_139276.3(STAT3):c.*1853A>G rs1053005 0.25080
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=) rs3750320 0.24050
NM_020661.4(AICDA):c.*89A>C rs11046349 0.23977
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484 0.22663
NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg) rs2228044 0.21678
NM_203447.4(DOCK8):c.1423-100G>A rs12340920 0.21365
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.21105
NM_003809.3(TNFSF12):c.276C>A (p.Arg92=) rs62059804 0.20757
NM_003200.5(TCF3):c.145+133G>A rs2302419 0.18839
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) rs2290846 0.18590
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_001364905.1(LRBA):c.5550T>C (p.Val1850=) rs1129998 0.17226
NM_000061.3(BTK):c.776+78G>A rs2855259 0.16810
NM_006060.6(IKZF1):c.1002C>A (p.Pro334=) rs61731355 0.16192
NM_001006658.3(CR2):c.-71T>C rs3813946 0.15667
NM_012092.4(ICOS):c.*1773G>C rs4675379 0.14872
NM_006846.4(SPINK5):c.1693-32C>T rs2287769 0.14805
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) rs10972587 0.13521
NM_203447.4(DOCK8):c.6068+32G>C rs16909246 0.12477
NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) rs34562254 0.12363
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12249
NM_003809.3(TNFSF12):c.72C>T (p.Leu24=) rs77711855 0.11708
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_020661.4(AICDA):c.*309T>C rs12307097 0.11052
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile) rs73157031 0.10956
NM_001364905.1(LRBA):c.1347A>G (p.Ala449=) rs1201208 0.10667
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_203447.4(DOCK8):c.-69T>C rs62533313 0.09752
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) rs10491684 0.09400
NM_001006658.3(CR2):c.2328T>C (p.Ile776=) rs61735651 0.09124
NM_020661.4(AICDA):c.*1028C>T rs7304723 0.09017
NM_001006658.3(CR2):c.58+97G>A rs1876453 0.08516
NM_012092.4(ICOS):c.*1262A>G rs10932038 0.08229
NM_012092.4(ICOS):c.*859A>T rs10932036 0.08225
NM_012092.4(ICOS):c.*330G>A rs10932035 0.08223
NM_012092.4(ICOS):c.*1024C>T rs10932037 0.08219
NM_004356.4(CD81):c.597C>T (p.Ser199=) rs14077 0.07917
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07826
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) rs17618 0.07668
NM_203447.4(DOCK8):c.*112T>C rs10974618 0.07359
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3234+8del rs112565335 0.07045
NM_139276.3(STAT3):c.1049+452C>A rs17881320 0.06054
NM_001364905.1(LRBA):c.1015-9C>T rs765923836 0.06006
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_013314.4(BLNK):c.1096-11A>T rs74151283 0.05315
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NC_000014.9:g.105855041A>G rs10287 0.05231
NM_152866.3(MS4A1):c.216C>T (p.Ile72=) rs2070770 0.05151
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NC_000014.9:g.105855988G>C rs113762053 0.04825
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04254
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_020661.4(AICDA):c.*1297G>A rs140765460 0.03904
NM_005026.5(PIK3CD):c.678A>G (p.Thr226=) rs2230735 0.03898
NM_012092.4(ICOS):c.*33T>C rs73058105 0.03775
NM_013314.4(BLNK):c.48G>A (p.Arg16=) rs11540858 0.03732
NM_001322934.2(NFKB2):c.2094C>T (p.Asn698=) rs11574851 0.03687
NM_001250.6(CD40):c.*135C>G rs11569343 0.03655
NM_139276.3(STAT3):c.2144+20C>T rs8069115 0.03624
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122 0.03470
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_006060.6(IKZF1):c.161-8328C>A rs76112582 0.03410
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) rs12348944 0.03237
NM_139276.3(STAT3):c.*584T>G rs11079042 0.03176
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703 0.03034
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668 0.02942
NM_203447.4(DOCK8):c.5818-14C>T rs10124592 0.02927
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) rs7034926 0.02921
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_203447.4(DOCK8):c.*743C>T rs117155264 0.02684
NM_012092.4(ICOS):c.*1095A>G rs73991307 0.02660
NM_012092.4(ICOS):c.*855T>C rs73991306 0.02657
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=) rs76362154 0.02638
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=) rs3750318 0.02605
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154 0.02479
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_001364905.1(LRBA):c.7630+10G>C rs57901153 0.02351
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_020661.4(AICDA):c.*1694A>G rs75351379 0.02262
NM_005026.5(PIK3CD):c.1522-19T>C rs77571929 0.02260
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_012092.4(ICOS):c.*1249G>A rs73991308 0.02203
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser) rs148187914 0.02203
NM_001006658.3(CR2):c.1617C>T (p.Thr539=) rs34349246 0.02179
NM_005026.5(PIK3CD):c.1689+20T>C rs181919452 0.02153
NM_001250.6(CD40):c.403+20A>G rs11699100 0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
NM_001006658.3(CR2):c.2649T>C (p.Gly883=) rs1143665 0.02114
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_080911.3(UNG):c.759C>G (p.Leu253=) rs76391872 0.02053
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217 0.02030
NM_013314.4(BLNK):c.195C>T (p.Ser65=) rs12261820 0.01993
NM_139276.3(STAT3):c.*1517G>A rs75454844 0.01966
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420 0.01937
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_005026.5(PIK3CD):c.371-3C>T rs113176101 0.01792
NM_080911.3(UNG):c.*1013T>A rs3219275 0.01781
NM_001250.6(CD40):c.*316G>C rs11569344 0.01767
NM_005026.5(PIK3CD):c.931-9G>C rs28730669 0.01748
NM_003809.3(TNFSF12):c.642G>T (p.Gly214=) rs4968189 0.01736
NM_001364905.1(LRBA):c.1603-4G>T rs143754610 0.01729
NM_003809.3(TNFSF12):c.338-9A>G rs114577645 0.01655
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083 0.01589
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01523
NM_020661.4(AICDA):c.*1666G>T rs115523544 0.01479
NM_020661.4(AICDA):c.*1206C>T rs147762245 0.01472
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) rs35266233 0.01461
NM_019594.4(LRRC8A):c.2157+11C>T rs11999754 0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) rs16930757 0.01361
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_020661.4(AICDA):c.*718C>A rs74372815 0.01333
NM_001770.6(CD19):c.1486+18T>A rs150575329 0.01255
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768 0.01195
NM_001250.6(CD40):c.559+36G>C rs41282788 0.01183
NM_203447.4(DOCK8):c.528+13A>G rs116483820 0.01176
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_001364905.1(LRBA):c.8106G>C (p.Leu2702Phe) rs34662958 0.01130
NM_203447.4(DOCK8):c.2739C>T (p.Ser913=) rs116523732 0.01126
NM_203447.4(DOCK8):c.1679+18G>A rs75894443 0.01123
NM_203447.4(DOCK8):c.3234+16A>C rs77395345 0.01120
NM_001322934.2(NFKB2):c.1269= (p.Pro423=) rs4919633 0.01101
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) rs35662752 0.01091
NM_000074.3(CD40LG):c.684A>G (p.Val228=) rs11575983 0.01089
NM_203447.4(DOCK8):c.*867C>T rs12067 0.01074
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_203447.4(DOCK8):c.3441C>T (p.Phe1147=) rs34621129 0.01036
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279 0.01026
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_203447.4(DOCK8):c.*757T>G rs116697485 0.00922
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00917
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) rs16930745 0.00880
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_000626.4(CD79B):c.312C>T (p.Leu104=) rs116625909 0.00851
NM_203447.4(DOCK8):c.2971-14A>G rs140114637 0.00841
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile) rs34678304 0.00820
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=) rs140468930 0.00813
NM_139276.3(STAT3):c.*1931A>G rs138326799 0.00808
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_001006658.3(CR2):c.635-20A>T rs17045039 0.00789
NM_001006658.3(CR2):c.445+17A>G rs145095346 0.00786
NM_012092.4(ICOS):c.40C>T (p.Arg14Cys) rs77411896 0.00783
NM_001250.5(CD40):c.-41C>T rs11569301 0.00774
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) rs41275930 0.00741
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_052945.4(TNFRSF13C):c.192C>T (p.Gly64=) rs529563231 0.00721
NM_139276.3(STAT3):c.711C>T (p.Asp237=) rs17882069 0.00712
NM_203447.4(DOCK8):c.*845T>C rs10157 0.00683
NM_181523.3(PIK3R1):c.1118+11G>A rs140892282 0.00661
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=) rs75946243 0.00643
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val) rs35612775 0.00642
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_080911.3(UNG):c.291C>T (p.Ser97=) rs3219210 0.00624
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_139276.3(STAT3):c.*669C>T rs138998960 0.00592
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_001364905.1(LRBA):c.8088G>A (p.Ala2696=) rs78563281 0.00553
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val) rs1064419 0.00538
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_001006658.3(CR2):c.1622G>T (p.Ser541Ile) rs144075435 0.00520
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) rs140431229 0.00514
NM_005026.5(PIK3CD):c.1002C>T (p.Asn334=) rs28730670 0.00506
NM_139276.3(STAT3):c.*582A>T rs115090026 0.00503
NM_001364905.1(LRBA):c.3825+15T>G rs74366731 0.00494
NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=) rs75761402 0.00493
NM_203447.4(DOCK8):c.5187A>G (p.Val1729=) rs111535933 0.00493
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671 0.00483
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_005026.5(PIK3CD):c.708G>A (p.Pro236=) rs145697393 0.00469
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_001364905.1(LRBA):c.1689C>A (p.Pro563=) rs115894255 0.00443
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936 0.00433
NM_203447.4(DOCK8):c.*258T>C rs145094924 0.00421
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_001322934.2(NFKB2):c.1212G>T (p.Gly404=) rs55847683 0.00399
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_139276.3(STAT3):c.*1383G>C rs183293865 0.00366
NM_001322934.2(NFKB2):c.1869G>A (p.Gly623=) rs138786808 0.00361
NM_001364905.1(LRBA):c.3331G>T (p.Val1111Leu) rs35250375 0.00360
NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=) rs28730672 0.00360
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_001006658.3(CR2):c.2240+19A>G rs140933861 0.00357
NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=) rs116828023 0.00357
NM_052945.4(TNFRSF13C):c.282C>T (p.Val94=) rs190252814 0.00351
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674 0.00337
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_000074.3(CD40LG):c.81A>G (p.Leu27=) rs36063307 0.00313
NM_013314.4(BLNK):c.270G>A (p.Glu90=) rs17111469 0.00302
NM_203447.4(DOCK8):c.1356G>A (p.Leu452=) rs113175936 0.00301
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) rs146289269 0.00296
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val) rs138173151 0.00282
NM_001322934.2(NFKB2):c.1821= (p.Ala607=) rs4919634 0.00280
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_203447.4(DOCK8):c.1516+16C>G rs141986056 0.00266
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser) rs45577437 0.00260
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_005026.5(PIK3CD):c.2235C>T (p.Cys745=) rs138742347 0.00252
NM_139276.3(STAT3):c.*211A>C rs41289087 0.00248
NM_000626.4(CD79B):c.118+12C>T rs150429226 0.00242
NM_001364905.1(LRBA):c.3859A>G (p.Ile1287Val) rs118037378 0.00242
NM_020661.4(AICDA):c.428-18C>T rs201393772 0.00235
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_001364905.1(LRBA):c.5031T>C (p.Asn1677=) rs114738831 0.00197
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00195
NM_001364905.1(LRBA):c.217-9C>T rs1163872504 0.00190
NM_203447.4(DOCK8):c.15G>A (p.Pro5=) rs148276394 0.00188
NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=) rs150550923 0.00185
NM_020070.4(IGLL1):c.393T>C (p.Ala131=) rs1064424 0.00182
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr) rs144903484 0.00175
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_020661.4(AICDA):c.369C>T (p.Pro123=) rs199980715 0.00171
NM_001006658.3(CR2):c.2352T>C (p.Ile784=) rs142319454 0.00170
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001364905.1(LRBA):c.8460C>T (p.Tyr2820=) rs76608264 0.00170
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_001364905.1(LRBA):c.2472C>T (p.Thr824=) rs149235577 0.00163
NM_001006658.3(CR2):c.1225+11C>T rs199538918 0.00153
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001322934.2(NFKB2):c.1826G>A (p.Arg609Gln) rs200092317 0.00151
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) rs146817483 0.00145
NM_203447.4(DOCK8):c.332+9T>G rs113744378 0.00145
NM_203447.4(DOCK8):c.640C>T (p.Leu214=) rs150446322 0.00143
NM_003809.3(TNFSF12):c.597G>A (p.Ala199=) rs143039184 0.00141
NM_003809.3(TNFSF12):c.609C>T (p.Leu203=) rs140608168 0.00140
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_005026.5(PIK3CD):c.1863C>T (p.Tyr621=) rs151235777 0.00139
NM_001364905.1(LRBA):c.6046+1886T>C rs72959815 0.00138
NM_020070.4(IGLL1):c.207-9T>A rs201800585 0.00137
NM_012452.3(TNFRSF13B):c.618C>T (p.Ala206=) rs147846226 0.00133
NM_203447.4(DOCK8):c.3234+8T>C rs112290938 0.00132
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001322934.2(NFKB2):c.2224-15C>T rs142623210 0.00125
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927 0.00125
NM_013314.4(BLNK):c.132T>A (p.Pro44=) rs147203646 0.00125
NM_001364905.1(LRBA):c.4323G>T (p.Arg1441=) rs145003932 0.00124
NM_203447.4(DOCK8):c.5781C>T (p.Tyr1927=) rs138225192 0.00122
NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=) rs141494621 0.00121
NM_005026.5(PIK3CD):c.1470+13C>T rs553468301 0.00120
NM_139276.3(STAT3):c.*730G>A rs555637030 0.00120
NM_001364905.1(LRBA):c.5754+15T>C rs112952572 0.00118
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826 0.00117
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_203447.4(DOCK8):c.3813A>G (p.Lys1271=) rs75411647 0.00115
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_052945.4(TNFRSF13C):c.367+18G>A rs200206184 0.00114
NM_005026.5(PIK3CD):c.3093G>C (p.Val1031=) rs149090253 0.00113
NM_001364905.1(LRBA):c.52G>A (p.Gly18Arg) rs150755521 0.00110
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) rs140134223 0.00105
NM_001364905.1(LRBA):c.2258+11C>T rs200986195 0.00102
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_001364905.1(LRBA):c.5241T>C (p.Asn1747=) rs72719631 0.00099
NM_001006658.3(CR2):c.2844G>A (p.Glu948=) rs61754518 0.00098
NM_203447.4(DOCK8):c.5818-16T>C rs202115648 0.00098
NM_020661.4(AICDA):c.*1089C>T rs141460280 0.00097
NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=) rs144748889 0.00096
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
NM_139276.3(STAT3):c.225G>A (p.Ser75=) rs146184566 0.00089
NM_203447.4(DOCK8):c.3841-11C>T rs372829200 0.00089
NM_001364905.1(LRBA):c.204T>C (p.Thr68=) rs143383047 0.00085
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=) rs115808092 0.00085
NM_203447.4(DOCK8):c.4588C>G (p.Leu1530Val) rs536373496 0.00084
NM_001322934.2(NFKB2):c.1608C>A (p.Ile536=) rs34916280 0.00083
NM_005026.5(PIK3CD):c.1812-17G>A rs201032317 0.00083
NM_181523.3(PIK3R1):c.1426-20T>G rs201254436 0.00083
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_052945.4(TNFRSF13C):c.368-15C>A rs372331667 0.00073
NM_203447.4(DOCK8):c.333-13T>A rs371504395 0.00072
NM_203447.4(DOCK8):c.1422+17C>T rs200839477 0.00071
NM_003809.3(TNFSF12):c.160-19G>A rs137994694 0.00069
NM_001006658.3(CR2):c.1978+7A>T rs201274951 0.00068
NM_181523.3(PIK3R1):c.334+12T>C rs189754791 0.00068
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) rs76276364 0.00068
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_001364905.1(LRBA):c.2469G>A (p.Ala823=) rs144453185 0.00064
NM_005026.5(PIK3CD):c.371-5C>T rs149617980 0.00064
NM_012092.4(ICOS):c.375A>G (p.Gly125=) rs768500706 0.00064
NM_203447.4(DOCK8):c.8C>G (p.Thr3Ser) rs199739266 0.00060
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029 0.00057
NM_203447.4(DOCK8):c.4887-16C>T rs200781199 0.00056
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=) rs143849749 0.00055
NM_139276.3(STAT3):c.2281T>C (p.Leu761=) rs142236792 0.00054
NM_005026.5(PIK3CD):c.3114G>A (p.Val1038=) rs138398486 0.00053
NM_001322934.2(NFKB2):c.1296C>T (p.Cys432=) rs192635220 0.00052
NM_139276.3(STAT3):c.*402G>A rs186798539 0.00050
NM_005026.5(PIK3CD):c.1021-20C>G rs199911701 0.00046
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.5355+6C>T rs188141951 0.00046
NM_005026.5(PIK3CD):c.825C>G (p.Thr275=) rs149175819 0.00043
NM_005026.5(PIK3CD):c.1047C>T (p.His349=) rs148357976 0.00039
NM_005026.5(PIK3CD):c.2427-7T>G rs369339827 0.00038
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_013314.4(BLNK):c.1096-16A>T rs80026049 0.00035
NM_001322934.2(NFKB2):c.2224-10G>A rs550812736 0.00034
NM_139276.3(STAT3):c.*1316A>G rs552123985 0.00033
NM_001364905.1(LRBA):c.3684T>C (p.Cys1228=) rs201219993 0.00032
NM_001006658.3(CR2):c.1494-17C>T rs150388945 0.00031
NM_001364905.1(LRBA):c.5581-12T>C rs192470940 0.00031
NM_001364905.1(LRBA):c.8403G>C (p.Lys2801Asn) rs200809013 0.00031
NM_001364905.1(LRBA):c.7016G>T (p.Ser2339Ile) rs183574413 0.00030
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_001006658.3(CR2):c.1395A>G (p.Gln465=) rs188078143 0.00029
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=) rs779365266 0.00027
NM_001322934.2(NFKB2):c.1117+7G>T rs188346889 0.00026
NM_012452.3(TNFRSF13B):c.570G>A (p.Gly190=) rs199810075 0.00026
NM_080911.3(UNG):c.622+10C>T rs201555956 0.00026
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086 0.00024
NM_001006658.3(CR2):c.200C>G (p.Thr67Ser) rs45573035 0.00024
NM_001006658.3(CR2):c.2445A>G (p.Gly815=) rs141282665 0.00024
NM_001364905.1(LRBA):c.4911C>T (p.Ile1637=) rs565094363 0.00024
NM_203447.4(DOCK8):c.5818-13G>A rs368826292 0.00024
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_001322934.2(NFKB2):c.1953C>G (p.Thr651=) rs372873787 0.00022
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu) rs191118242 0.00022
NM_001364905.1(LRBA):c.315G>A (p.Thr105=) rs755713891 0.00020
NM_139276.3(STAT3):c.1011C>T (p.Leu337=) rs200623682 0.00020
NM_181523.3(PIK3R1):c.634+6T>C rs199530427 0.00020
NM_001364905.1(LRBA):c.2067+11A>G rs185860143 0.00019
NM_203447.4(DOCK8):c.4241+12G>A rs371073556 0.00019
NM_000626.4(CD79B):c.550-17T>C rs199521114 0.00018
NM_001006658.3(CR2):c.375C>T (p.Asn125=) rs138096192 0.00018
NM_000074.3(CD40LG):c.708G>A (p.Ser236=) rs146620753 0.00016
NM_001006658.3(CR2):c.58+13G>A rs373721952 0.00016
NM_001322934.2(NFKB2):c.978C>T (p.Tyr326=) rs2295587 0.00016
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) rs17847317 0.00015
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973 0.00014
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_080911.3(UNG):c.528G>A (p.Pro176=) rs373915335 0.00014
NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu) rs140604473 0.00014
NM_020070.4(IGLL1):c.492G>A (p.Thr164=) rs148071349 0.00013
NM_139276.3(STAT3):c.1143C>G (p.Ser381=) rs143571879 0.00013
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000626.4(CD79B):c.550-8G>A rs202115514 0.00012
NM_001364905.1(LRBA):c.3273A>G (p.Ser1091=) rs572733441 0.00012
NM_003809.3(TNFSF12):c.429T>G (p.Pro143=) rs770924960 0.00012
NM_005026.5(PIK3CD):c.2865-19C>T rs371194095 0.00012
NM_012092.4(ICOS):c.591G>A (p.Val197=) rs55655222 0.00012
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102 0.00011
NM_005026.5(PIK3CD):c.1470+16G>A rs573337389 0.00011
NM_012452.3(TNFRSF13B):c.126T>C (p.Pro42=) rs377551435 0.00011
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=) rs538021528 0.00011
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) rs767319189 0.00010
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) rs375387574 0.00010
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) rs374246579 0.00010
NM_001322934.2(NFKB2):c.1539C>T (p.His513=) rs533142885 0.00010
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_203447.4(DOCK8):c.5491-7T>A rs184867151 0.00010
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462 0.00009
NM_001322934.2(NFKB2):c.503-16T>C rs201456641 0.00009
NM_005026.5(PIK3CD):c.2998-15G>A rs200233248 0.00009
NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=) rs149908718 0.00009
NM_000074.3(CD40LG):c.594C>T (p.Pro198=) rs370353192 0.00008
NM_001006658.3(CR2):c.2241-6C>T rs200614122 0.00008
NM_001322934.2(NFKB2):c.2475C>T (p.Gly825=) rs200482499 0.00008
NM_001364905.1(LRBA):c.4350C>T (p.Val1450=) rs750711532 0.00008
NM_139276.3(STAT3):c.405C>T (p.Ala135=) rs201846078 0.00008
NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=) rs190710687 0.00007
NM_005026.5(PIK3CD):c.342C>T (p.Asn114=) rs201273776 0.00007
NM_000074.3(CD40LG):c.39G>A (p.Ala13=) rs779460863 0.00006
NM_001006658.3(CR2):c.1008T>C (p.Ser336=) rs201228014 0.00006
NM_001322934.2(NFKB2):c.1969-17G>A rs375150780 0.00006
NM_001322934.2(NFKB2):c.503-17A>G rs201960564 0.00006
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00006
NM_139276.3(STAT3):c.2295C>T (p.Cys765=) rs145244024 0.00006
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) rs376582437 0.00005
NM_000074.3(CD40LG):c.741G>C (p.Val247=) rs764969326 0.00005
NM_001364905.1(LRBA):c.7041+14T>G rs201154634 0.00005
NM_003809.3(TNFSF12):c.204G>A (p.Pro68=) rs751381442 0.00005
NM_005026.5(PIK3CD):c.1824G>A (p.Leu608=) rs778839252 0.00005
NM_005026.5(PIK3CD):c.600+13G>A rs768012867 0.00005
NM_013314.4(BLNK):c.744C>T (p.Ala248=) rs147455437 0.00005
NM_139276.3(STAT3):c.*1125G>A rs377364072 0.00005
NM_203447.4(DOCK8):c.2646G>A (p.Thr882=) rs373515697 0.00005
NM_001322934.2(NFKB2):c.767-13G>A rs746075690 0.00004
NM_001364905.1(LRBA):c.5755-18T>C rs186513264 0.00004
NM_005026.5(PIK3CD):c.142-12C>T rs140984297 0.00004
NM_005026.5(PIK3CD):c.1785C>T (p.Phe595=) rs375016049 0.00004
NM_005026.5(PIK3CD):c.2998-18G>A rs554946921 0.00004
NM_005026.5(PIK3CD):c.558G>A (p.Pro186=) rs748818520 0.00004
NM_139276.3(STAT3):c.513C>T (p.Asp171=) rs777828006 0.00004
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) rs148994877 0.00004
NM_000074.3(CD40LG):c.204G>A (p.Thr68=) rs775209130 0.00003
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) rs767236871 0.00003
NM_001322934.2(NFKB2):c.853-8C>A rs749266689 0.00003
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_005026.5(PIK3CD):c.1635G>A (p.Ala545=) rs769971778 0.00003
NM_005026.5(PIK3CD):c.849C>T (p.Leu283=) rs376128746 0.00003
NM_139276.3(STAT3):c.1465-16G>A rs189319171 0.00003
NM_139276.3(STAT3):c.2223T>C (p.Gly741=) rs778445506 0.00002
NM_000074.3(CD40LG):c.156+17G>A rs755782893 0.00001
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) rs778398894 0.00001
NM_000074.3(CD40LG):c.409+17C>T rs1195970071 0.00001
NM_005026.5(PIK3CD):c.1710C>T (p.Ser570=) rs200918933 0.00001
NM_005026.5(PIK3CD):c.252C>T (p.Asp84=) rs755377648 0.00001
NM_013314.4(BLNK):c.164-9C>T rs587723501 0.00001
NM_080911.3(UNG):c.339+17A>C rs778193117 0.00001
NM_139276.3(STAT3):c.1123G>A (p.Val375Ile) rs781724933 0.00001
NM_139276.3(STAT3):c.1687G>A (p.Val563Ile) rs749943696 0.00001
NM_139276.3(STAT3):c.1743C>T (p.Asn581=) rs1141144 0.00001
NM_181523.3(PIK3R1):c.1569-18C>T rs557466936 0.00001
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843 0.00001
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile) rs199782622 0.00001
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00001
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T rs201981439
NM_000061.3(BTK):c.1631+71C>T rs2071223
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000074.3(CD40LG):c.191T>C (p.Val64Ala)
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) rs200672738
NM_000074.3(CD40LG):c.288+20del rs758537361
NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
NM_000074.3(CD40LG):c.642C>T (p.Ser214=)
NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)
NM_000626.4(CD79B):c.102G>C (p.Arg34=) rs549278202
NM_000626.4(CD79B):c.549+11del rs750893342
NM_000626.4(CD79B):c.67+17G>C rs373437028
NM_001006658.3(CR2):c.1086A>T (p.Val362=) rs371022418
NM_001006658.3(CR2):c.1296A>T (p.Gly432=) rs201585844
NM_001006658.3(CR2):c.3089-3del rs1274247380
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001250.6(CD40):c.646+27G>T
NM_001250.6(CD40):c.647-3dup rs749590513
NM_001322934.2(NFKB2):c.1584+11G>A
NM_001322934.2(NFKB2):c.1584+9dup rs935753166
NM_001322934.2(NFKB2):c.1821A>C (p.Ala607=)
NM_001322934.2(NFKB2):c.502+16dup
NM_001322934.2(NFKB2):c.502+22_502+45del
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001364905.1(LRBA):c.2068-19dup
NM_001364905.1(LRBA):c.217-10del rs766044503
NM_001364905.1(LRBA):c.217-21_217-20dup rs766044503
NM_001364905.1(LRBA):c.217-21dup rs766044503
NM_001364905.1(LRBA):c.2368-11del rs763305183
NM_001364905.1(LRBA):c.3150A>G (p.Val1050=) rs756885717
NM_001364905.1(LRBA):c.4339+15del
NM_001364905.1(LRBA):c.4462-13del rs750589475
NM_001364905.1(LRBA):c.448+12dup rs779183221
NM_001364905.1(LRBA):c.4570-13dup rs145452262
NM_001364905.1(LRBA):c.4570-6del rs145452262
NM_001364905.1(LRBA):c.5518+13del
NM_001364905.1(LRBA):c.5519-20dup
NM_001364905.1(LRBA):c.5581-14dup rs760075270
NM_001364905.1(LRBA):c.5581-5del rs760075270
NM_001364905.1(LRBA):c.5755-10del
NM_001364905.1(LRBA):c.5755-10dup rs772027194
NM_001364905.1(LRBA):c.6852A>G (p.Gln2284=) rs140538555
NM_001364905.1(LRBA):c.7041+15del rs751929197
NM_001364905.1(LRBA):c.7766G>A (p.Cys2589Tyr)
NM_001364905.1(LRBA):c.8017+20del
NM_001364905.1(LRBA):c.8017+5475_8017+5480del rs56229710
NM_001364905.1(LRBA):c.8018-13dup rs773155703
NM_001364905.1(LRBA):c.895-11dup rs762371000
NM_001770.6(CD19):c.705G>T (p.Pro235=) rs35979293
NM_001783.4(CD79A):c.379+23dup
NM_001783.4(CD79A):c.499-10A>C
NM_001783.4(CD79A):c.499-14A>C
NM_003809.3(TNFSF12):c.499-8del
NM_003809.3(TNFSF12):c.642= (p.Gly214=)
NM_003998.4(NFKB1):c.1210+16T>C rs4648050
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_003998.4(NFKB1):c.2593-22C>G rs3817685
NM_005026.5(PIK3CD):c.1020+15_1020+18dup rs755190125
NM_005026.5(PIK3CD):c.1243-16C>T
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005026.5(PIK3CD):c.1764C>T (p.Pro588=)
NM_005026.5(PIK3CD):c.2085G>A (p.Leu695=)
NM_005026.5(PIK3CD):c.2426+8C>T rs770571023
NM_005026.5(PIK3CD):c.2427-9del
NM_005026.5(PIK3CD):c.2864+19del
NM_005026.5(PIK3CD):c.2998-8G>T rs546505883
NM_005026.5(PIK3CD):c.781-8del rs2100866754
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1431-39del rs34473560
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1821-47T>G rs72660259
NM_006846.4(SPINK5):c.2313+31C>G rs9325073
NM_012092.4(ICOS):c.395-10dup rs750240095
NM_012092.4(ICOS):c.501+6C>T rs4264550
NM_012452.3(TNFRSF13B):c.*86_*88del rs150068036
NM_012452.3(TNFRSF13B):c.199+12G>A
NM_012452.3(TNFRSF13B):c.560AGA[1] (p.Lys188del) rs376630110
NM_013314.4(BLNK):c.1096-17del rs201454460
NM_013314.4(BLNK):c.1096-9dup
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013314.4(BLNK):c.48-5dup
NM_013314.4(BLNK):c.608-22CA[5] rs200821324
NM_013314.4(BLNK):c.775-12del
NM_019594.4(LRRC8A):c.-2C>T
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu) rs200178386
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr) rs111903752
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr) rs199718215
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.624C>T (p.Ala208=)
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479
NM_020661.4(AICDA):c.*38T>C rs115089086
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_052945.4(TNFRSF13C):c.191_192delinsTT (p.Gly64Val) rs1556157858
NM_052945.4(TNFRSF13C):c.368-13C>G rs201892760
NM_052945.4(TNFRSF13C):c.368-13C>T rs201892760
NM_080911.3(UNG):c.579T>G (p.Phe193Leu)
NM_080911.3(UNG):c.801+24_801+27del rs144108564
NM_080911.3(UNG):c.801+27dup rs144108564
NM_139276.3(STAT3):c.1050-13dup
NM_139276.3(STAT3):c.1191A>G (p.Glu397=)
NM_139276.3(STAT3):c.1200C>T (p.Asn400=)
NM_139276.3(STAT3):c.1335G>A (p.Val445=)
NM_139276.3(STAT3):c.1515C>T (p.Ala505=)
NM_139276.3(STAT3):c.1597T>C (p.Leu533=)
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.2145-12dup
NM_139276.3(STAT3):c.2174C>T (p.Pro725Leu)
NM_139276.3(STAT3):c.2294G>A (p.Cys765Tyr)
NM_139276.3(STAT3):c.2299A>G (p.Thr767Ala)
NM_139276.3(STAT3):c.373-6dup
NM_139276.3(STAT3):c.48G>A (p.Glu16=)
NM_139276.3(STAT3):c.551-137_551-18del rs1567722156
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[4] rs768181932
NM_139276.3(STAT3):c.666G>A (p.Ala222=)
NM_139276.3(STAT3):c.708G>A (p.Thr236=)
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
NM_181523.3(PIK3R1):c.837-7C>T rs571365105
NM_181523.3(PIK3R1):c.916+9T>G
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup) rs371994015
NM_203447.3(DOCK8):c.-113C>T rs2236547
NM_203447.4(DOCK8):c.2109+11del rs550211916
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.3234+15C>A rs79462548
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.3234+21dup rs3831174
NM_203447.4(DOCK8):c.3700+19del rs1229243384
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_203447.4(DOCK8):c.4338+12A>G
NM_203447.4(DOCK8):c.5080-143G>C rs10733508
NM_203447.4(DOCK8):c.5223+79A>C rs10217568
NM_203447.4(DOCK8):c.53+14C>G rs756810591
NM_203447.4(DOCK8):c.53+14del rs749863710
NM_203447.4(DOCK8):c.5490+21C>T rs1887958
NM_203447.4(DOCK8):c.5581-10dup
NM_203447.4(DOCK8):c.5581-18G>C rs10814952
NM_203447.4(DOCK8):c.5581-5del rs764924630
NM_203447.4(DOCK8):c.5962-13_5962-9del
NM_203447.4(DOCK8):c.5962-15_5962-9del rs35071801
NM_203447.4(DOCK8):c.5962-16_5962-9del rs35071801
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.