Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-148206164-C-T c.-231C>T 5_prime_UTR_premature_start_codon_gain ADRB2 2 43946 4.55104E-5 21973 0 NA
5-148206205-C-T c.-190C>T 5_prime_UTR_premature_start_codon_gain ADRB2 5 63358 7.89166E-5 31679 0 NA
5-148206260-C-T c.-135C>T 5_prime_UTR_premature_start_codon_gain ADRB2 2 74420 2.68745E-5 37210 0 6.37227E-5
5-148206316-C-T c.-79C>T 5_prime_UTR_premature_start_codon_gain ADRB2 1 77006 1.2986E-5 38503 0 NA
5-148206323-C-T c.-72C>T 5_prime_UTR_premature_start_codon_gain ADRB2 1 77412 1.29179E-5 38706 0 NA
5-148206333-C-T c.-62C>T 5_prime_UTR_premature_start_codon_gain ADRB2 1 77980 1.28238E-5 38990 0 NA
5-148206348-C-T c.-47C>T 5_prime_UTR_premature_start_codon_gain ADRB2 45151 71928 0.627725 35964 14370 0.683536
5-148206395-A-G p.Met1? start_lost ADRB2 1 81850 1.22175E-5 40925 0 3.18512E-5
5-148206401-C-A p.Gln3Lys missense ADRB2 1 81970 1.21996E-5 40985 0 4.9613E-5
5-148206405-C-A p.Pro4His missense ADRB2 2 82140 2.43487E-5 41070 0 9.55292E-5
5-148206409-G-T p.Gly5Gly synonymous ADRB2 1 82356 1.21424E-5 41178 0 8.25682E-6
5-148206411-AC-A p.Asn6fs frameshift ADRB2 2 82394 2.42736E-5 41197 0 NA
5-148206427-G-T p.Leu11Phe missense ADRB2 2 82808 2.41523E-5 41404 0 NA
5-148206438-A-G p.Asn15Ser missense ADRB2 22 82966 2.65169E-4 41483 0 7.96077E-4
5-148206440-G-A p.Gly16Arg missense ADRB2 32829 81856 0.401058 40928 6690 0.435549
5-148206450-C-G p.Ala19Gly missense ADRB2 2 83042 2.40842E-5 41521 0 NA
5-148206450-C-A p.Ala19Glu missense ADRB2 1 83042 1.20421E-5 41521 0 3.18532E-5
5-148206453-C-G p.Pro20Arg missense ADRB2 1 83072 1.20378E-5 41536 0 NA
5-148206460-C-T p.His22His synonymous ADRB2 129 83118 0.00155201 41559 0 0.00356642
5-148206460-C-A p.His22Gln missense ADRB2 1 83120 1.20308E-5 41560 0 1.19335E-5
5-148206463-C-A p.Asp23Glu missense ADRB2 1 83146 1.2027E-5 41573 0 NA
5-148206472-G-A p.Gln26Gln synonymous ADRB2 1 83196 1.20198E-5 41598 0 NA
5-148206473-G-C p.Glu27Gln missense ADRB2 53113 81832 0.649049 40916 17620 0.758812
5-148206481-C-T p.Asp29Asp synonymous ADRB2 1 83228 1.20152E-5 41614 0 3.1837E-5
5-148206482-G-A p.Glu30Lys missense ADRB2 3 83236 3.60421E-5 41618 0 NA
5-148206489-G-A p.Trp32* stop_gained ADRB2 1 83244 1.20129E-5 41622 0 NA
5-148206496-G-A p.Val34Val synonymous ADRB2 1 83260 1.20106E-5 41630 0 7.95292E-6
5-148206498-G-A p.Gly35Asp missense ADRB2 1 83256 1.20111E-5 41628 0 3.97649E-6
5-148206509-G-A p.Val39Ile missense ADRB2 2 83264 2.402E-5 41632 0 9.55414E-5
5-148206509-G-T p.Val39Phe missense ADRB2 1 83264 1.201E-5 41632 0 NA
5-148206512-A-G p.Met40Val missense ADRB2 1 83274 1.20085E-5 41637 0 8.23669E-6
5-148206519-T-G p.Leu42Arg missense ADRB2 2 83290 2.40125E-5 41645 0 7.95305E-6
5-148206523-C-T p.Ile43Ile synonymous ADRB2 3 83276 3.60248E-5 41638 0 8.23696E-6
5-148206523-C-G p.Ile43Met missense ADRB2 1 83276 1.20083E-5 41638 0 2.47109E-5
5-148206524-G-A p.Val44Ile missense ADRB2 6 83276 7.20496E-5 41638 0 6.36254E-5
5-148206565-C-G p.Ala57Ala synonymous ADRB2 2 83216 2.40338E-5 41608 0 3.29609E-5
5-148206570-C-T p.Ala59Val missense ADRB2 3 83224 3.60473E-5 41612 0 3.18431E-5
5-148206591-C-T p.Thr66Met missense ADRB2 2 83220 2.40327E-5 41610 0 8.24742E-6
5-148206592-G-T p.Thr66Thr synonymous ADRB2 2 83210 2.40356E-5 41605 0 5.03525E-4
5-148206600-A-G p.Asn69Ser missense ADRB2 10 83234 1.20143E-4 41617 0 0.00175159
5-148206601-C-T p.Asn69Asn synonymous ADRB2 1 83234 1.20143E-5 41617 0 NA
5-148206612-C-G p.Thr73Ser missense ADRB2 1 83244 1.20129E-5 41622 0 1.65038E-5
5-148206634-G-A p.Leu80Leu synonymous ADRB2 1 83288 1.20065E-5 41644 0 NA
5-148206635-G-T p.Val81Phe missense ADRB2 1 83294 1.20057E-5 41647 0 NA
5-148206637-C-T p.Val81Val synonymous ADRB2 1 83294 1.20057E-5 41647 0 NA
5-148206642-G-A p.Gly83Asp missense ADRB2 2 83300 2.40096E-5 41650 0 8.25818E-6
5-148206646-G-A p.Leu84Leu synonymous ADRB2 20145 82904 0.242992 41452 2633 0.320242
5-148206658-C-A p.Pro88Pro synonymous ADRB2 1 83338 1.19993E-5 41669 0 NA
5-148206668-G-A p.Ala92Thr missense ADRB2 6 83328 7.20046E-5 41664 2 3.97858E-6
5-148206677-C-G p.Leu95Val missense ADRB2 8 83362 9.5967E-5 41681 0 3.9769E-5
5-148206683-A-C p.Lys97Gln missense ADRB2 1 83368 1.1995E-5 41684 0 3.97665E-6
5-148206687-T-C p.Met98Thr missense ADRB2 3 83362 3.59876E-5 41681 0 6.36862E-5
5-148206713-G-A p.Glu107Lys missense ADRB2 1 83382 1.1993E-5 41691 0 NA
5-148206716-T-G p.Phe108Val missense ADRB2 2 83388 2.39843E-5 41694 0 3.97624E-6
5-148206728-A-G p.Ile112Val missense ADRB2 2 83390 2.39837E-5 41695 0 5.03525E-4
5-148206730-T-A p.Ile112Ile synonymous ADRB2 2 83386 2.39848E-5 41693 0 3.18512E-5
5-148206733-T-C p.Asp113Asp synonymous ADRB2 1 83382 1.1993E-5 41691 0 NA
5-148206751-C-T p.Ala119Ala synonymous ADRB2 1 83378 1.19936E-5 41689 0 3.18512E-5
5-148206772-G-A p.Val126Val synonymous ADRB2 4 83380 4.79731E-5 41690 0 3.18431E-5
5-148206787-CTACTTTGCCAT-C p.Ala134fs frameshift ADRB2 1 83362 1.19959E-5 41681 0 NA
5-148206841-G-A p.Lys149Lys synonymous ADRB2 10 83298 1.20051E-4 41649 0 8.74807E-5
5-148206846-G-A p.Arg151Gln missense ADRB2 2 83270 2.40183E-5 41635 0 7.9533E-6
5-148206854-A-G p.Ile154Val missense ADRB2 1 83278 1.2008E-5 41639 0 NA
5-148206880-C-A p.Gly162Gly synonymous ADRB2 12 83274 1.44103E-4 41637 0 NA
5-148206885-C-T p.Thr164Ile missense ADRB2 969 83284 0.0116349 41642 4 0.0156093
5-148206896-C-T p.Pro168Ser missense ADRB2 1 83342 1.19988E-5 41671 0 NA
5-148206916-CC-AA p.TyrArg174* stop_gained ADRB2 1 83384 1.19927E-5 41692 0 NA
5-148206917-C-A p.Arg175Arg synonymous ADRB2 18092 83054 0.217834 41527 2191 0.268882
5-148206928-C-A p.His178Gln missense ADRB2 16 83376 1.91902E-4 41688 0 3.50385E-4
5-148206934-A-G p.Glu180Glu synonymous ADRB2 1 83388 1.19921E-5 41694 0 NA
5-148206954-A-G p.Asn187Ser missense ADRB2 3 83394 3.59738E-5 41697 0 8.92231E-4
5-148206959-A-C p.Thr189Pro missense ADRB2 1 83404 1.19898E-5 41702 0 NA
5-148206979-G-T p.Thr195Thr synonymous ADRB2 5 83404 5.99492E-5 41702 0 1.27429E-4
5-148206996-T-A p.Ile201Asn missense ADRB2 2 83414 2.39768E-5 41707 0 3.97621E-6
5-148206999-C-T p.Ala202Val missense ADRB2 1 83416 1.19881E-5 41708 0 NA
5-148207000-C-A p.Ala202Ala synonymous ADRB2 1 83414 1.19884E-5 41707 0 NA
5-148207021-C-T p.Tyr209Tyr synonymous ADRB2 2 83406 2.39791E-5 41703 0 5.03525E-4
5-148207032-T-C p.Val213Ala missense ADRB2 8 83398 9.59256E-5 41699 0 3.18104E-5
5-148207040-G-A p.Val216Ile missense ADRB2 3 83400 3.59712E-5 41700 0 1.48256E-4
5-148207051-C-T p.Tyr219Tyr synonymous ADRB2 2 83396 2.3982E-5 41698 0 8.23642E-6
5-148207053-C-G p.Ser220Cys missense ADRB2 308 83398 0.00369313 41699 5 0.00681659
5-148207053-C-T p.Ser220Phe missense ADRB2 3 83400 3.59712E-5 41700 0 1.59058E-5
5-148207063-T-C p.Phe223Phe synonymous ADRB2 2 83392 2.39831E-5 41696 0 3.57913E-5
5-148207072-C-T p.Ala226Ala synonymous ADRB2 1 83364 1.19956E-5 41682 0 NA
5-148207078-G-T p.Arg228Ser missense ADRB2 2 83360 2.39923E-5 41680 0 6.25E-4
5-148207092-T-C p.Ile233Thr missense ADRB2 4 83348 4.79916E-5 41674 0 6.37389E-5
5-148207110-G-A p.Arg239His missense ADRB2 1 83330 1.20005E-5 41665 0 NA
5-148207117-T-C p.His241His synonymous ADRB2 4 83346 4.79927E-5 41673 0 8.23913E-6
5-148207123-G-A p.Gln243Gln synonymous ADRB2 1 83340 1.1999E-5 41670 0 NA
5-148207126-C-G p.Asn244Lys missense ADRB2 1 83342 1.19988E-5 41671 0 8.239E-6
5-148207127-C-T p.Leu245Phe missense ADRB2 1 83346 1.19982E-5 41673 0 NA
5-148207135-G-T p.Gln247His missense ADRB2 10 83354 1.1997E-4 41677 0 6.25E-4
5-148207152-G-A p.Arg253Gln missense ADRB2 1 83352 1.19973E-5 41676 0 NA
5-148207156-G-A p.Thr254Thr synonymous ADRB2 1 83356 1.19967E-5 41678 0 3.1817E-5
5-148207161-A-G p.His256Arg missense ADRB2 1 83364 1.19956E-5 41682 0 3.97668E-6
5-148207163-G-A p.Gly257Arg missense ADRB2 4 83364 4.79823E-5 41682 0 8.2394E-6
5-148207165-A-T p.Gly257Gly synonymous ADRB2 6 83358 7.19787E-5 41679 0 2.38597E-5
5-148207168-C-T p.Leu258Leu synonymous ADRB2 1 83368 1.1995E-5 41684 0 8.23913E-6
5-148207180-C-T p.Ser262Ser synonymous ADRB2 1 83378 1.19936E-5 41689 0 NA
5-148207183-G-T p.Lys263Asn missense ADRB2 1 83380 1.19933E-5 41690 0 NA
5-148207190-T-C p.Leu266Leu synonymous ADRB2 1 83378 1.19936E-5 41689 0 3.97633E-6
5-148207195-G-C p.Lys267Asn missense ADRB2 1 83384 1.19927E-5 41692 0 1.59056E-5
5-148207234-C-T p.Gly280Gly synonymous ADRB2 25 83388 2.99803E-4 41694 0 5.4147E-4
5-148207236-C-T p.Thr281Ile missense ADRB2 1 83396 1.1991E-5 41698 0 3.97621E-6
5-148207243-C-T p.Thr283Thr synonymous ADRB2 3 83392 3.59747E-5 41696 0 3.18451E-5
5-148207258-C-T p.Pro288Pro synonymous ADRB2 1 83390 1.19918E-5 41695 0 NA
5-148207258-C-A p.Pro288Pro synonymous ADRB2 1 83390 1.19918E-5 41695 0 3.97621E-6
5-148207268-G-A p.Val292Ile missense ADRB2 1 83400 1.19904E-5 41700 0 3.18492E-5
5-148207269-T-C p.Val292Ala missense ADRB2 1 83398 1.19907E-5 41699 0 3.97621E-6
5-148207269-T-A p.Val292Asp missense ADRB2 1 83398 1.19907E-5 41699 0 3.18451E-5
5-148207273-C-CATTGTGCATGTGATCCAGGATAACCTCATCCGTAAGGAAGTTTACATCCTCCTAA p.Trp313fs frameshift ADRB2 1 83398 1.19907E-5 41699 0 NA
5-148207283-G-A p.Val297Met missense ADRB2 7 83398 8.39349E-5 41699 0 4.77145E-5
5-148207287-T-C p.Ile298Thr missense ADRB2 2 83398 2.39814E-5 41699 0 3.97624E-6
5-148207330-T-C p.Asn312Asn synonymous ADRB2 9 83408 1.07903E-4 41704 0 6.37024E-5
5-148207337-G-T p.Gly315Cys missense ADRB2 1 83408 1.19893E-5 41704 0 NA
5-148207353-G-A p.Gly320Asp missense ADRB2 1 83396 1.1991E-5 41698 0 8.23683E-6
5-148207363-C-T p.Pro323Pro synonymous ADRB2 2 83400 2.39808E-5 41700 0 8.23696E-6
5-148207376-C-G p.Arg328Gly missense ADRB2 1 83388 1.19921E-5 41694 0 NA
5-148207377-G-A p.Arg328Gln missense ADRB2 5 83380 5.99664E-5 41690 0 3.97646E-5
5-148207384-A-C p.Pro330Pro synonymous ADRB2 1 83380 1.19933E-5 41690 0 1.15325E-4
5-148207390-C-T p.Phe332Phe synonymous ADRB2 3 83372 3.59833E-5 41686 0 1.19294E-5
5-148207396-T-C p.Ile334Ile synonymous ADRB2 1 83362 1.19959E-5 41681 0 3.97643E-6
5-148207398-C-T p.Ala335Val missense ADRB2 1 83358 1.19964E-5 41679 0 3.97659E-6
5-148207404-A-G p.Gln337Arg missense ADRB2 1 83368 1.1995E-5 41684 0 3.97652E-6
5-148207439-G-C p.Ala349Pro missense ADRB2 1 83342 1.19988E-5 41671 0 NA
5-148207442-T-C p.Tyr350His missense ADRB2 2 83332 2.40004E-5 41666 0 NA
5-148207443-A-G p.Tyr350Cys missense ADRB2 1 83330 1.20005E-5 41665 0 NA
5-148207447-G-C p.Gly351Gly synonymous ADRB2 26036 82490 0.315626 41245 4025 0.359013
5-148207466-G-C p.Gly358Arg missense ADRB2 6 83346 7.19891E-5 41673 0 1.59256E-4
5-148207467-G-C p.Gly358Ala missense ADRB2 1 83344 1.19985E-5 41672 0 7.95425E-6
5-148207492-T-C p.Tyr366Tyr synonymous ADRB2 103 83380 0.00123531 41690 0 0.00111486
5-148207493-C-G p.His367Asp missense ADRB2 2 83394 2.39825E-5 41697 0 8.26802E-6
5-148207498-G-T p.Val368Val synonymous ADRB2 2 83388 2.39843E-5 41694 0 3.18593E-5
5-148207502-C-A p.Gln370Lys missense ADRB2 12 83398 1.43888E-4 41699 0 1.49482E-4
5-148207507-G-A p.Glu371Glu synonymous ADRB2 2 83406 2.39791E-5 41703 0 9.56267E-5
5-148207511-GAAAATAAACTGCTGTGTGAAGACCTCCCA-G p.Glu373fs frameshift ADRB2 2 83412 2.39774E-5 41706 0 NA
5-148207516-T-G p.Asn374Lys missense ADRB2 1 83410 1.1989E-5 41705 0 1.20109E-5
5-148207523-C-T p.Leu377Leu synonymous ADRB2 2 83412 2.39774E-5 41706 0 3.18715E-5
5-148207534-C-A p.Asp380Glu missense ADRB2 1 83420 1.19875E-5 41710 0 4.06108E-6
5-148207545-C-A p.Thr384Lys missense ADRB2 2 83418 2.39756E-5 41709 0 1.71736E-5
5-148207546-G-A p.Thr384Thr synonymous ADRB2 6 83420 7.19252E-5 41710 0 1.27462E-4
5-148207551-A-T p.Asp386Val missense ADRB2 1 83424 1.1987E-5 41712 0 1.72209E-5
5-148207559-G-A p.Gly389Ser missense ADRB2 2 83424 2.39739E-5 41712 0 3.18674E-5
5-148207560-G-T p.Gly389Val missense ADRB2 1 83424 1.1987E-5 41712 0 NA
5-148207564-T-C p.His390His synonymous ADRB2 12 83422 1.43847E-4 41711 0 6.37674E-5
5-148207567-A-G p.Gln391Gln synonymous ADRB2 1 83422 1.19872E-5 41711 0 8.68071E-6
5-148207572-C-CT p.Val394fs frameshift ADRB2 1 83420 1.19875E-5 41710 0 NA
5-148207573-T-C p.Thr393Thr synonymous ADRB2 28 83416 3.35667E-4 41708 0 0.0014188
5-148207583-G-A p.Asp397Asn missense ADRB2 2 83408 2.39785E-5 41704 0 8.89925E-6
5-148207599-A-G p.Gln402Arg missense ADRB2 1 83406 1.19895E-5 41703 0 4.45541E-6
5-148207611-G-A p.Cys406Tyr missense ADRB2 1 83390 1.19918E-5 41695 0 4.47531E-6
5-148207613-A-G p.Ser407Gly missense ADRB2 1 83388 1.19921E-5 41694 0 3.50889E-5
5-148207616-A-G p.Thr408Ala missense ADRB2 2 83388 2.39843E-5 41694 0 NA
5-148207621-T-C p.Asn409Asn synonymous ADRB2 1 83390 1.19918E-5 41695 0 NA
5-148207633-G-A p.Leu413Leu synonymous ADRB2 29159 79018 0.369017 39509 5489 0.456697
5-148208196-C-A c.*560C>A splice_region ADRB2 1 69048 1.44827E-5 34524 0 NA