Genes and Alleles

Precision Medicine Experts at RPRDx

Genes and Alleles

Genetic variation can affect drug efficacy and likelihood of the occurrence of an adverse drug reaction. Our WPS test includes both common and rare variants, especially the ethnicity-specific variants, in order to generate accurate and ethnicity-inclusive test results and actionable interpretation*.

WPS was developed from a highly comprehensive PGx assay that analyzes 4,627 markers within nearly 1,200 genes1. Due to the large scope of the test, the haplotype/allele information will be added to the list in phases. If the genes or markers you are interested in are not shown in the list, please contact us or email info@rprdx.com directly for more information.

ABCB1_c.1795G>A(A599T) (rs2235036)
ABCB1_c.239C>A(A80E) (rs9282565)
ABCB1_c.2677G>T/A(A893S/T) (rs2032582)
ABCB1_c.2995G>A(A999T) (rs72552784)
ABCB1_c.1696G>A(E566K) (rs28381902)
ABCB1_c.49T>C(F17L) (rs28381804)
ABCB1_c.3188G>C(G1063A) (rs2707944)
ABCB1_c.554G>T(G185V) (rs1128501)
ABCB1_c.2485A>G(I829V) (rs2032581)
ABCB1_c.2506A>G(I836V) (rs28381967)
ABCB1_c.61A>G(N21D) (rs9282564)
ABCB1_c.131A>G(N44S) (rs1202183)
ABCB1_c.3151C>G(P1051A) (rs28401798)
ABCB1_c.3320A>C(Q1107P) (rs55852620)
ABCB1_c.1777C>T(R593C) (rs28381914)
ABCB1_c.3421T>A(S1141T) (rs2229107)
ABCB1_c.1199G>A(S400N) (rs2229109)
ABCB1_c.3751G>A(V1251I) (rs28364274)
ABCB1_c.2401G>A(V801M) (rs2235039)
ABCB11_c.713G>T(G238V) (rs72551306) [available upon request]
ABCB11_c.896G>A(R299K) (rs2287617) [available upon request]
ABCB11_c.1331C>T(A444V) (rs2287622) [available upon request]
ABCB11_c.1445A>G(D482G) (rs72549402) [available upon request]
ABCB11_c.1723C>T(R575X) (rs72549401) [available upon request]
ABCB11_c.2944G>A(G982R) (rs72549399) [available upon request]
ABCB11_c.3169C>T(R1057X) (rs72549397) [available upon request]
ABCB11_c.3268C>T(R1090X) (rs72549396) [available upon request]
ABCB11_c.3457C>T(R1153C) (rs72549395) [available upon request]
ABCB11_c.3556G>A(E1186K) (rs1521808) [[available upon request]
ABCB11_c.3803G>A(R1268Q) (rs72549394) [available upon request]
ANKK1_c.453A>C (rs4938013)
rs7118900
rs1800497
rs28933389
rs28933390 (available upon request)
rs1799807 (available upon request)
rs1803274 (available upon request)
CACNA1S_c.520C>T(R174W) (rs772226819)
CACNA1S_c.3257G>A(R1086H) (rs1800559)
CFTR_c.1521_1523delCTT(F508del) (rs113993960)
CFTR_c.1652G>A(G551D) (rs75527207)
COMT_c.1-98A>G(SolublePromoter)
COMT_c.186C>T(H62=)
COMT_c.408C>G(L136=)
COMT_c.472G>A(V158M)
COMT_c.214G>T(A72S)
COMT_c.304G>A(A102T)
*2
*3
*4
*5
*6
*7
*8
*11
*12
*13
*14
*15
*16
*17
*18
*19
*20
*21
*22
*24
*25
*26
*27
*28
*35
*36
*37
*38
CYP2B6_15662G>A(V183I) (rs58871670)
CYP2B6_18026G>A(R253H) (rs373086625)
CYP2B6_15752T>C(F213L) (rs371424910)
*2
*3
*4A
*4B
*5
*6
*7
*8
*9
*10
*12
*13
*14
*15
*16
*17
*18
*19
*22
*23
*24
*25
*26
*28
*34
*35
CYP2C19_12834G>C(A161P) (rs181297724)
CYP2C19_80248G>A(D360N) (rs144036596)
CYP2C19_19194_19195insG(E241Frameshift) (rs72558185)
CYP2C19_12460G>C(E92D) (rs17878459)
CYP2C19_17814T>C(F168L) (rs28399510)
CYP2C19_90052delG(G439Frameshift)
CYP2C19_12405T>C(M74T) (rs28399505)
CYP2C19_57876C>G(T302R) (rs58259047)
CYP2C19_12690G>A(V113I) (rs145119820)
CYP2C19_80161G>A(V331I) (rs3758581)
CYP2C19_87242G>A(V394M) (rs55948420)
*1B
*1C
*2
*3
*4+1C
*5
*7
*8
*10
*11
*12
*13
*14
CYP2C8_30425C>G(P404A) (rs66501115)
CYP2C8_30384T>C(L390S) (rs72558194)
*2
*3
*4
*5
*6
*9
*10
*11
*12
*13
*15
*16
*17
*18
*19
*20
*21
*23
*24
*25
*26
*28
*29
*30
*31
*32
*34
*36
*37
*38
*39
*40
*42
*43
*44
*45
*46
*47
*48
*49
*50
*51
*52
*53
*54
*55
*56
*57
*58
CYP2C9_42612A>G(Y358C) (rs1057909)
CYP2C9_47439T>C(L413P) (rs28371687)
CYP2C9_50294A>G(N474S) (rs141011391)
rs9332094C
*2
*3A
*3B
*4
*5
*6
*7
*8
*9
*10
*11
*12
*14
*15
*17
*18
*19
*20
*22
*23
*25
*28
*29
*31
*33
*35
*37
*38
*40
*41
*42
*43
*44
*45
*46
*47
*48
*49
*51
*53
*54
*55
*56A
*56B
*59
*62
*70
*71
*72
*73
*75
*81
*82
*84
*85
*86
*88
*89
*95
*100
*101
*102
*103
*107
*109
*114
CYP2D6_974C>A(L91M) (rs28371703)
CYP2D6_984A>G(H94R) (rs28371704)
CYP2D6_1858C>T(R173C) (rs67780109)
CYP2D6_1976G>A(G212E) (rs5030866)
CYP2D6_2616_2617delA(K281Frameshift) (rs28371720)
CYP2D6_2938C>T(P325L) (rs140513104)
CYP2D6_3265G>A(R365H) (rs1058172)
CYP2D6*52_3877G>A(E418K) (rs28371733)
CYP2D6_3887T>C(L421P) (rs72549345)
CYP2D6_4123C>T(S467L) (rs370012110)
CYP2D6_4131A>G(T470A) (rs1135835)
CYP2D6_4155C>T(H478Y) (rs28371735)
CYP2D6_4180G>C(S486T) (rs1135840)
CYP2D6_4192A>G(Y490C) (rs199722016)
CNV
*2
*2+3
*3
*3G
*4
*5
*6
*7
*8
*8
CYP3A5*3B_3705C>T(H30Y) (rs28383468)
CYP3A5*3B_3709_3710insG(G31Frameshift) (rs200579169)
CYP3A5*3L_3775A>G(Y53C) (rs72552791)
CYP3A5*3D_7249T>G(L82R) (rs56244447)
CYP3A5_7303C>A/G(S100Y/C) (rs41279857)
CYP3A5*3K_29753T>C(F446S) (rs41279854)
CYP3A5*3F_31551T>C(I488T) (rs28365085)
*2
*3
*2+3
CYP4F2_c.36G>C(W12C) (rs2906891)
CYP4F2_c.38C>G(P13R) (rs2906890)
CYP4F2_c.554G>T(G185V) (rs3093153)
CYP4F2_c.832C>T(L278F) (rs4605294)
CYP4F2_c.1555C>A(L519M) (rs3093200)
DPYD_c.61C>T(R21X) (rs72549310)
DPYD*7_c.295_298delTCAT(F100Frameshift) (rs72549309)
DPYD_c.557A>G(Y186C) (rs115232898)
DPYD*8_c.703C>T(R235W) (rs1801266)
DPYD_c.1129-5923C>G(SpliceVariant) (rs75017182)
DPYD*12_c.1156G>T(E386X) (rs78060119)
DPYD*13_c.1679T>G(I560S) (rs55886062)
DPYD*3_c.1898delC(P633Frameshift) (rs72549303)
DPYD*2_c.1905+1G>A(SpliceVariant) (rs3918290)
DPYD_c.2846A>T(D949V) (rs67376798)
DPYD*10_c.2983G>T(V995F) (rs1801268)
DPYD_c.62G>A(R21Q) (rs80081766)
DPYD*9_c.85T>C(C29R) (rs1801265)
DPYD_c.496A>G(M166V) (rs2297595)
DPYD_c.775A>G(K259E) (rs45589337)
DPYD*11_c.1003G>T(V335L) (rs72549306)
DPYD*4_c.1601G>A(S534N) (rs1801158)
DPYD*5_c.1627A>G(I543V) (rs1801159)
DPYD_c.1905C>G/T(N635K/N) (rs3918289)
DPYD*6_c.2194G>A(V732I) (rs1801160)
DPYD_c.2656C>T(R886C) (rs147545709)
DPYD*9B_c.2657G>A(R886H) (rs1801267)
rs1125394
rs1124493
rs1801028
rs2283265
rs2440390
rs4648317
rs2734841
rs1076560
rs1110976
rs1079598
rs4436578
rs6275
rs6277
rs6279
DRD2_c.-32+24002G>A (rs4460839)
DRD2_c.285+2169C>T (rs2734833)
rs3800373
rs9380524
rs1360780
rs4713916
G6PD_c.34G>T(Sinnai)
G6PD_c.40G>A(Lages)
G6PD_c.95A>G(Gaohe) (rs137852340)
G6PD_c.99A>G(Honiara)
G6PD_c.103_105delATC(Sunderland) (rs137852338)
G6PD_c.130G>A(Rignano)
G6PD_c.131C>G(Orissa) (rs78478128)
G6PD_c.143T>C(Aures) (rs76645461)
G6PD_c.148C>T(Kambos)
G6PD_c.159G>C(Kozukata)
G6PD_c.169C>T(Kamogawa)
G6PD_c.170G>A(Palestrina) (rs1000937138)
G6PD_c.172G>A(Metaponto) (rs137852315)
G6PD_c.179T>C(Costanzo)
G6PD_c.180_182delTCT(Amsterdam)
G6PD_c.185C>A/G/T(C>A:Amazonia;C>T:Musashino)
G6PD_c.196T>A(Songklanagarind)
G6PD_c.202G>A(V68M) (rs1050828)
G6PD_c.208T>C(Namouru) (rs137852349)
G6PD_c.209A>G(Murcia_Oristano) (rs782090947)
G6PD_c.224T>C(Swansea)
G6PD_c.241C>T(Ube_Konan) (rs138687036)
G6PD_c.242G>A(Lagosanto) (rs782308266)
G6PD_c.274C>T(Guangzhou)
G6PD_c.281_283delAGA(Urayasu)
G6PD_c.317C>G(Vancouver) (rs267606835)
G6PD_c.323T>A(Hammersmith)
G6PD_c.337G>A(Sao_Borja) (rs5030870)
G6PD_c.352T>C(Bao_Loc)
G6PD_c.375G>T(Crispim)
G6PD_c.376A>G(N126D) (rs1050829)
G6PD_c.379G>T(Crispim)
G6PD_c.383T>C(Crispim,Vanua_Lava) (rs78365220)
G6PD_c.384C>T(Crispim)
G6PD_c.392G>T(Quing_Yan) (rs137852341)
G6PD_c.406C>T(Valladolid) (rs979416826)
G6PD_c.409C>T(Belem)
G6PD_c.442G>A(Liuzhou)
G6PD_c.463C>G(Acrokorinthos)
G6PD_c.466G>A(Ilesha) (rs137852313)
G6PD_c.473G>A(Shenzhen) (rs782487723)
G6PD_c.487G>A(Mahidol) (rs137852314)
G6PD_c.488G>A(Plymouth)
G6PD_c.493A>G(Taipei) (rs137852331)
G6PD_c.496C>T(Toledo)
G6PD_c.497G>A(Naone)
G6PD_c.514C>T(Volendam)
G6PD_c.517T>C(Nankang) (rs137852343)
G6PD_c.519C>G(Miaoli)
G6PD_c.527A>G(Shinshu)
G6PD_c.535A>T(Chikugo)
G6PD_c.542A>T(Santa_Maria,Malaga) (rs5030872)
G6PD_c.544C>T(Vancouver) (rs267606836)
G6PD_c.561_563delCTC(Tsukui)
G6PD_c.563C>T(Mediterranean) (rs5030868)
G6PD_c.573C>G(Pedoplis-Ckaro)
G6PD_c.592C>T(Vancouver,Coimbra_Shunde) (rs137852330)
G6PD_c.593G>A/C/T(G>A:Nilgiri;G>C:Santiago)
G6PD_c.634A>G(Sibari) (rs782754619)
G6PD_c.637G>T(Minnesota,Cincinnati) (rs137852326)
G6PD_c.648T>G(Harilaou) (rs137852319)
G6PD_c.679C>T(Radlowo)
G6PD_c.680G>A/T(G>A:Mexico_City) (rs137852328)
G6PD_c.683_685delACA(North_Dallas)
G6PD_c.695G>A(Asahikawa)
G6PD_c.703C>T(Nanning) (rs782757170)
G6PD_c.713A>G(Durham)
c.724_729delGGCACT(Stonybrook)
G6PD_c.724_729delGGCACT(Stonybrook)
G6PD_c.769C>G(Wayne)
G6PD_c.806G>A(Aveiro) (rs137852346)
G6PD_c.811G>C(Roubaix)
G6PD_c.806G>A(Aveiro) (rs137852346)
G6PD_c.820G>A(Cleveland_Corum)
G6PD_c.821A>T(Lille)
G6PD_c.825G>C(Bangkok)
G6PD_c.826C>T(Sugao)
G6PD_c.832T>C(La_Jolla)
G6PD_c.833C>T(Wexham)
G6PD_c.835A>C/G/T(A>G:Haikou;A>T:Chinese-1)
G6PD_c.844G>A/C/T(G>C:Seattle;G>T:Bajo_Maumere) (rs137852318)
G6PD_c.848A>G(Mizushima)
G6PD_c.851T>C(Piotrkow)
G6PD_c.853C>T(Osaka)
G6PD_c.854G>A(Montalbano) (rs74575103)
G6PD_c.871G>A(Hechi,Ananindeua,Viangchan) (rs137852327)
G6PD_c.910G>T(West_Virginia)
G6PD_c.916G>A(Seoul)
G6PD_c.921G>C(Omiya)
G6PD_c.929G>A(Ludhiana)
G6PD_c.949G>A(Kalyan-Kerala) (rs137852339)
G6PD_c.962G>A(Manhattan)
G6PD_c.964T>C(Rehevot) (rs137852347)
G6PD_c.968T>C(L323P) (rs76723693)
G6PD_c.977C>A(Farroupilha)
G6PD_c.957_980del24(Nara) (rs587776730)
G6PD_c.989G>A(Insuli) (rs868950643)
G6PD_c.1000_1002delACC(Villeurbanne)
G6PD_c.1003G>A(Chatham) (rs5030869)
G6PD_c.1004C>A(Fushan)
G6PD_c.1006A>G(Torun)
G6PD_c.1024C>T(Chinese-5) (rs137852342)
G6PD_c.1037A>T(Cincinnati) (rs398123544)
G6PD_c.1048G>C(Mira_d'Aire) (rs34193178)
G6PD_c.1052G>T(Partenope)
G6PD_c.1057C>T(Ierapetra) (rs137852333)
G6PD_c.1081G>A(Iwatsuki)
G6PD_c.1082C>T(Serres) (rs137852345)
G6PD_c.1089C>A(Loma_Linda) (rs137852329)
G6PD_c.1096A>G(Tenri) (rs1057518975)
G6PD_c.1084_1101del18(Tondela)
G6PD_c.1132G>A(Montpellier) (rs371489738)
G6PD_c.1138A>G(Calvo_Mackenna)
G6PD_c.1139T>C(Riley)
G6PD_c.1141T>C(Olomouc)
G6PD_c.1153T>C(Tomah) (rs137852322)
G6PD_c.1154G>T(Lynwood)
G6PD_c.1155C>G(Madrid)
G6PD_c.1156A>G(Iowa) (rs137852320)
G6PD_c.1159C>T(Mt_Sinai,Guadalajara) (rs137852334)
G6PD_c.1160G>A(Beverly_Hills) (rs137852321)
G6PD_c.1162A>G(Hartford)
G6PD_c.1166A>G(Praha)
G6PD_c.1175T>C(Krakow)
G6PD_c.1177C>G(Wisconsin)
G6PD_c.1178G>A(Nashville) (rs137852316)
G6PD_c.1180G>C(Alhambra) (rs137852335)
G6PD_c.1187C>T(Bari)
G6PD_c.1192G>A(Puerto_Limon) (rs137852325)
G6PD_c.1193A>G(Anadia)
G6PD_c.1205C>A(Covao_do_Lobo)
G6PD_c.1215G>A(Clinic)
G6PD_c.1220A>C(Abeno)
G6PD_c.1225C>T(Utrecht)
G6PD_c.1226C>G(Suwalki)
G6PD_c.1228G>T(Riverside) (rs137852323)
G6PD_c.1229G>A(Japan) (rs137852336)
G6PD_c.1231A>G(Munich)
G6PD_c.1246G>A(Tokyo)
G6PD_c.1264C>G(L422V)
G6PD_c.1284C>A(Georgia)
G6PD_c.1291G>A(Surabaya) (rs782098548)
G6PD_c.1292T>G(Sumare)
G6PD_c.1316G>C(Pawnee) (rs137852337)
G6PD_c.1318C>T(Telti_Kobe)
G6PD_c.1339G>A(Santiago_de_Cuba) (rs137852317)
G6PD_c.1342A>G(S_Antioco)
G6PD_c.1347G>C(Cassano,Hermoupolis)
G6PD_c.1358T>A(Harima)
G6PD_c.1360C>T(Honiara,Hermoupolis,Union) (rs398123546)
G6PD_c.1361G>A(Andalus) (rs137852324)
G6PD_c.1366G>C(Figuera_da_Foz)
G6PD_c.1367A>T(Amiens)
G6PD_c.1376G>C/T(G>C:Cosenza;G>T:Bangkok_Noi) (rs72554665)
G6PD_c.1380G>C(Nice)
G6PD_c.1387C>A/G/T(C>A:Flores;C>T:Kamiube)
G6PD_c.1388G>A(Kaiping) (rs72554664)
G6PD_c.1400C>G(Neapolis) (rs137852344)
G6PD_c.1442C>G(Split) (rs137852348)
G6PD_c.1462G>A(Fukaya)
G6PD_c.1463G>T(Campinas)
G6PD_c.1465C>T(Buenos_Aires)
G6PD_c.1466C>T(Arakawa)
G6PD_c.1488_1490delGAA(Brighton)
G6PD_c.1502T>G(Bangkok_Noi)
GRIK4_c.2267-1150G>A (rs12800734)
rs1954787
rs1061235
rs2844682
rs3909184
rs2395029
rs9263726
rs2647087
rs10040843
rs6875401
rs1364043
rs10042486
rs114058084
rs6295
chr5:63121377
rs9316233
rs7997012
rs6318
rs6314
rs6313
rs6311
rs518147
rs3813929
rs3813928
rs2497538
rs1414334
HTR2A_c.614-25509C>T (rs659734)
HTR2A_c.613+8832A>G (rs17288723)
HTR2A_c.516C>T(p.=) (rs6305)
HTR2A_c.-344G>A (rs6312)
rs3813929
rs2497538
rs3813928
rs518147
rs6318
rs1414334
HTR2C_c.-238+2217N>T (rs539748)
rs12979860
rs11872992
*4
*5
*5E
*5I
*5L
*5M
*5N
*5O
*5P
*5S
*5X
*5Y
*6
*6G
*6H
*6I
*6J
*6K
*6M
*6O
*6P
*6V
*7
*7D
*10
*12D
*12E
*12F
*12G
*12H
*12J
*12K
*12O
*13D
*13F
*14
*14D
*14F
*14H
*14K
*17
*18
*19
*21
*23
*24
NAT2_c.613A>T(M205L) (rs45607939)
NAT2_c.803A>G(K268R) (rs1208)
NAT2_c.859T>C(S287P) (rs72554618)
RYR1_c.4711A>G(I1571V) (rs146429605)
RYR1_c.11798A>G(Y3933C) (rs147136339)
SLC6A4_L/S allele (rs774676466)
rs2531
*1A
*1B
*2
*3
*4
*5
*6
*7
*8
*9
*11
*13
*14
*15
*16
*17
*18
*21
*22
*23
*24
*25
*26
*27
*28
*29
*30
*31
*32
*33
*35
SLCO1B1_c.1007C>G(P336R) (rs72559747)
*2
*3A
*3B
*3C
*3D
*4
*5
*6
*7
*8
*9
*10
*11
*12
*13
*14
*15
*16
*17
*18
*19
*20
*21
*23
*24
*25
*26
*27
*28
*29
*30
*31
*33
*34
*35
*36
*37
rs13306278
rs9606186
rs2020917
*6
*8
*12
*14
*15
*27
*28
*43
*45
*60
*62
*112
UGT1A1*62/UNK_c.247T>C/A(F83L/ I) (rs56059937)
VKORC1_c.-1639G>A(5'UTR) (rs9923231)
VKORC1_c.173+324T>G (rs2884737) [available upon request]
VKORC1_c.173+525C>T (rs17708472) [available upon request]
VKORC1_c.174-136C>T (rs9934438) [available upon request]
VKORC1_c.283+124G>C (rs8050894) [available upon request]
VKORC1_c.283+837C>T (rs2359612) [available upon request]
VKORC1_c.*134G>A(3'UTR) (rs7294) [available upon request]
VKORC1_c.85G>T(V29L) (rs104894539) [available upon request]
VKORC1_c.106G>T(D36Y) (rs61742245) [available upon request]
VKORC1_c.134T>C(V45A) (rs104894540) [available upon request]
VKORC1_c.172A>G(R58G) (rs104894541) [available upon request]
VKORC1_c.196G>A(V66M) (rs72547529) [available upon request]
VKORC1_c.292C>T(R98W) (rs72547528) [available upon request]
VKORC1_c.383T>G(L128R) (rs104894542) [[available upon request]

*Haplotypes represented by mutations not present in the test are considered wild type, which for many (but not all) genes are reported as a *1 allele. The presence of other variants that are not detected in the assay may influence drug metabolism. All relevant patient information must be considered when making any dosing decision. Please contact us for additional information on haplotypes reported on the WPS assay.

“available upon request” indicates the specific variant is not interpreted in the clinical report, but is investigated by the assay and can be made available upon request. Please contact us if you would like to receive the test results of these variants prior to ordering the test.

REFERENCES
  1. PharmacoScan™ Assay Kit https://www.thermofisher.com/order/catalog/product/903026