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, in order to generate accurate and ethnicity-unbiased genotype 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.

c.520C>T
c.3257G>A
c.532G>A(G178R)
c.1521_1523delCTT(F508del)
c.1645A>C(S549R)
c.1646G>A/T(S549N/I)
c.1647T>G(S549R)
c.1651G>A(G551S)
c.1652G>A(G551D)
c.1687T>A(Y563N)
c.3472C>T(R1158X)
c.3731G>A/T(G1244E/V)
c.3752G>A(S1251N)
c.3763T>C(S1255P)
c.4046G>A(G1349D)
c.1-98A>G(SolublePromoter)
c.186C>T(H62=)
c.408C>G(L136=)
c.472G>A(V158M)
c.214G>T(A72S)
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
15662G>A(V183I)
15752T>C(F213L)
18026G>A(R253H)
*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
12834G>C(A161P)
80248G>A(D360N)
19194_19195insG(E241Frameshift)
12460G>C(E92D)
17814T>C(F168L)
90052delG(G439Frameshift)
12405T>C(M74T)
57876C>G(T302R)
80161G>A(V331I)
12690G>A(V113I)
87242G>A(V394M)
*1B
*1C
*2
*3
*4+1C
*5
*7
*8
*10
*11
*12
*13
*14
30425C>G(P404A)
30384T>C(L390S)
*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
42612A>G(Y358C)
47439T>C(L413P)
50294A>G(N474S)
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
974C>A(L91M)
984A>G(H94R)
1858C>T(R173C)
1976G>A(G212E)
2616_2617delA(K281Frameshift)
2938C>T(P325L)
3265G>A(R365H)
3288G>A (G373S)
3887T>C(L421P)
4123C>T(S467L)
4131A>G(T470A)
4155C>T(H478Y)
4180G>C(S486T)
4192A>G(Y490C)
3877G>A(E418K)
CNV
*2
*2+3
*3
*3G
*4
*5
*6
*7
*8
*8
*3B_3705C>T(H30Y)
*3B_3709_3710insG(G31Frameshift)
*3D_7249T>G(L82R)
*3F_31551T>C(I488T)
*3K_29753T>C(F446S)
*3L_3775A>G(Y53C)
7303C>A/G(S100Y/C)
*2
*3
*2+3
c.36G>C(W12C)
c.38C>G(P13R)
c.554G>T(G185V)
c.832C>T(L278F)
c.1555C>A(L519M)
c.61C>T(R21X)
*7_c.295_298delTCAT(F100Frameshift)
c.557A>G(Y186C)
*8_c.703C>T(R235W)
c.1129-5923C>G(SpliceVariant)
*12_c.1156G>T(E386X)
*13_c.1679T>G(I560S)
*3_c.1898delC(P633Frameshift)
*2_c.1905+1G>A(SpliceVariant)
c.2846A>T(D949V)
*10_c.2983G>T(V995F)
c.62G>A(R21Q)
*9_c.85T>C(C29R)
c.496A>G(M166V)
c.775A>G(K259E)
*11_c.1003G>T(V335L)
*4_c.1601G>A(S534N)
*5_c.1627A>G(I543V)
c.1905C>G/T(N635K/N)
*6_c.2194G>A(V732I)
c.2656C>T(R886C)
*9B_c.2657G>A(R886H)
c.34G>T(Sinnai)
c.40G>A(Lages)
c.95A>G(Gaohe)
c.99A>G(Honiara)
c.105delATC(Sunderland)
c.130G>A(Rignano)
c.131C>G(Orissa)
c.143T>C(Aures)
c.148C>T(Kambos)
c.159G>C(Kozukata)
c.169C>T(Kamogawa)
c.170G>A(Palestrina)
c.172G>A(Metaponto)
c.179T>C(Costanzo)
c.182delTCT(Amsterdam)
c.185C>A/G/T(C>A:Amazonia;C>T:Musashino)
c.196T>A(Songklanagarind)
c.202G>A(V68M)
c.208T>C(Namouru)
c.209A>G(Murcia_Oristano)
c.224T>C(Swansea)
c.241C>T(Ube_Konan)
c.242G>A(Lagosanto)
c.274C>T(Guangzhou)
c.281_283delAGA(Urayasu)
c.317C>G(Vancouver)
c.323T>A(Hammersmith)
c.337G>A(Sao_Borja)
c.352T>C(Bao_Loc)
c.375G>T(Crispim)
c.376A>G(N126D)
c.379G>T(Crispim)
c.383T>C(Crispim,Vanua_Lava)
c.384C>T(Crispim)
c.392G>T(Quing_Yan)
c.406C>T(Valladolid)
c.409C>T(Belem)
c.442G>A(Liuzhou)
c.463C>G(Acrokorinthos)
c.466G>A(Ilesha)
c.473G>A(Shenzhen)
c.487G>A(Mahidol)
c.488G>A(Plymouth)
c.493A>G(Taipei)
c.496C>T(Toledo)
c.497G>A(Naone)
c.514C>T(Volendam)
c.517T>C(Nankang)
c.519C>G(Miaoli)
c.527A>G(Shinshu)
c.535A>T(Chikugo)
c.542A>T(Santa_Maria,Malaga)
c.544C>T(Vancouver)
563delCTC(Tsukui)
c.563C>T(Mediterranean)
c.573C>G(Pedoplis-Ckaro)
c.592C>T(Vancouver,Coimbra_Shunde)
c.593G>A/C/T(G>A:Nilgiri;G>C:Santiago)
c.634A>G(Sibari)
c.637G>T(Minnesota,Cincinnati)
c.648T>G(Harilaou)
c.679C>T(Radlowo)
c.680G>A/T(G>A:Mexico_City)
c.683_685delACA(North_Dallas)
c.695G>A(Asahikawa)
c.703C>T(Nanning)
c.713A>G(Durham)
c.724_729delGGCACT(Stonybrook)
c.769C>G(Wayne)
c.806G>A(Aveiro)
c.811G>C(Roubaix)
c.820G>A(Cleveland_Corum)
c.821A>T(Lille)
c.825G>C(Bangkok)
c.826C>T(Sugao)
c.832T>C(La_Jolla)
c.833C>T(Wexham)
c.835A>C/G/T(A>G:Haikou;A>T:Chinese-1)
c.844G>A/C/T(G>C:Seattle;G>T:Bajo_Maumere)
c.848A>G(Mizushima)
c.851T>C(Piotrkow)
c.853C>T(Osaka)
c.854G>A(Montalbano)
c.871G>A(Hechi,Ananindeua,Viangchan)
c.910G>T(West_Virginia)
c.916G>A(Seoul)
c.921G>C(Omiya)
c.929G>A(Ludhiana)
c.949G>A(Kalyan-Kerala)
c.962G>A(Manhattan)
c.964T>C(Rehevot)
c.968T>C(L323P)
c.977C>A(Farroupilha)
c.957_980del24(Nara)
c.989G>A(Insuli)
1002delACC(Villeurbanne)
c.1003G>A(Chatham)
c.1004C>A(Fushan)
c.1006A>G(Torun)
c.1024C>T(Chinese-5)
c.1037A>T(Cincinnati)
c.1048G>C(Mira_d'Aire)
c.1052G>T(Partenope)
c.1057C>T(Ierapetra)
c.1081G>A(Iwatsuki)
c.1082C>T(Serres)
c.1089C>A(Loma_Linda)
c.1096A>G(Tenri)
1101del18(Tondela)
c.1132G>A(Montpellier)
c.1138A>G(Calvo_Mackenna)
c.1139T>C(Riley)
c.1141T>C(Olomouc)
c.1153T>C(Tomah)
c.1154G>T(Lynwood)
c.1155C>G(Madrid)
c.1156A>G(Iowa)
c.1159C>T(Mt_Sinai,Guadalajara)
c.1160G>A(Beverly_Hills)
c.1162A>G(Hartford)
c.1166A>G(Praha)
c.1175T>C(Krakow)
c.1177C>G(Wisconsin)
c.1178G>A(Nashville)
c.1180G>C(Alhambra)
c.1187C>T(Bari)
c.1192G>A(Puerto_Limon)
c.1193A>G(Anadia)
c.1205C>A(Covao_do_Lobo)
c.1215G>A(Clinic)
c.1220A>C(Abeno)
c.1225C>T(Utrecht)
c.1226C>G(Suwalki)
c.1228G>T(Riverside)
c.1229G>A(Japan)
c.1231A>G(Munich)
c.1246G>A(Tokyo)
c.1264C>G(L422V)
c.1284C>A(Georgia)
c.1291G>A(Surabaya)
c.1292T>G(Sumare)
c.1311C>T(Y437=)
c.1316G>C(Pawnee)
c.1318C>T(Telti_Kobe)
c.1339G>A(Santiago_de_Cuba)
c.1342A>G(S_Antioco)
c.1347G>C(Cassano,Hermoupolis)
c.1358T>A(Harima)
c.1360C>T(Honiara,Hermoupolis,Union)
c.1361G>A(Andalus)
c.1366G>C(Figuera_da_Foz)
c.1367A>T(Amiens)
c.1376G>C/T(G>C:Cosenza;G>T:Bangkok_Noi)
c.1380G>C(Nice)
c.1387C>A/G/T(C>A:Flores;C>T:Kamiube)
c.1388G>A(Kaiping)
c.1400C>G(Neapolis)
c.1442C>G(Split)
c.1462G>A(Fukaya)
c.1463G>T(Campinas)
c.1465C>T(Buenos_Aires)
c.1466C>T(Arakawa)
c.1488_1490delGAA(Brighton)
c.1502T>G(Bangkok_Noi)
rs2395029
rs2844682
rs9263726
rs3909184
rs12979860C
rs12979860T
rs10853728
rs12979860
rs368234815
rs4803219
rs4803223
rs7248668
rs8099917
c.103T>C(C35R)
c.418G>A(A140T)
c.487C>T(R163C)
c.742G>A/C(G248R)
c.1021G>A/C(G341R)
c.1565A>C/G(Y522S/C)
c.1840C>T(R614C)
c.1841G>T(R614L)
c.4711A>G(I1571V)
c.6487C>T(R2163C)
c.6488G>A/C(R2163H/P)
c.6502G>A(V2168M)
c.6617C>G/T(T2206R/M)
c.7007G>A(R2336H)
c.7025A>G(N2342S)
c.7048G>A(A2350T)
c.7063C>T(R2355W)
c.7124G>C(G2375A)
c.7300G>A(G2434A)
c.7304G>A(R2435H)
c.7354C>T(R2452W)
c.7360C>T(R2454C)
c.7361G>A(R2454H)
c.7372C>T(R2458C)
c.7373G>A(R2458H)
c.11708G>A(R3903Q)
c.11798A>G(Y3933C)
c.12310G>A(G4104S)
c.14387A>G(Y4796C)
c.14477C>T(T4826I)
c.14497C>T(H4833Y)
c.14545G>A(V4849I)
c.14582G>A(R4861H)
c.14693T>C(I4898T)
*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
c.1007C>G(P336R)
*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
*6
*8
*12
*14
*15
*27
*28
*43
*45
*60
*62
*112
*36+60
*60+80
*28+60+80
*28+60+80+93
*27+28+60+80
*27+28+60+80+93
*6
*8
*12
*14
*15
*27
*27+28+60+80
*27+28+60+80+93
*28
*28+60+80
*28+60+80+93
*36+60
*43
*45
*60
*60+80
*62
*112
F83I
c.-1639G>A(5'UTR)
c.173+324T>G
c.173+525C>T
c.174-136C>T
c.283+124G>C
c.283+837C>T
c.*134G>A(3'UTR)
c.85G>T(V29L)
c.106G>T(D36Y)
c.134T>C(V45A)
c.172A>G(R58G)
c.196G>A(V66M)
c.292C>T(R98W)
c.383T>G(L128R)
REFERENCES
  1. PharmacoScan™ Assay Kit https://www.thermofisher.com/order/catalog/product/903026

*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.