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Phenotypes List

This page documents all named alleles, phenotypes and activity scores used by PharmCAT.

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ABCG2

Variants CPIC Phenotypes
  • rs2231142 reference (G)
  • rs2231142 variant (T)
  • Decreased Function
  • Normal Function
  • Poor Function

CACNA1S

Variants CPIC Phenotypes
  • Reference
  • c.520C>T
  • c.3257G>A
  • Malignant Hyperthermia Susceptibility
  • Uncertain Susceptibility

CFTR

Variants CPIC Phenotypes
  • 711+3A->G
  • 2789+5G->A
  • 3272-26A->G
  • 3849+10kbC->T
  • A455E
  • A1067T
  • D110E
  • D110H
  • D579G
  • D1152H
  • D1270N
  • E56K
  • E193K
  • E831X
  • F1052V
  • F1074L
  • G178R
  • G551D
  • G551S
  • G1069R
  • G1244E
  • G1349D
  • K1060T
  • L206W
  • P67L
  • R74W
  • R117C
  • R117H
  • R347H
  • R352Q
  • R1070Q
  • R1070W
  • S549N
  • S549R(A>C)
  • S549R(T>G)
  • S945L
  • S977F
  • S1251N
  • S1255P
  • ivacaftor non-responsive CFTR sequence
  • ivacaftor non-responsive in CF patients
  • ivacaftor responsive in CF patients

CYP2B6

Named Alleles CPIC Phenotypes DPWG Phenotypes
  • *1
  • *2
  • *3
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *17
  • *18
  • *19
  • *20
  • *21
  • *22
  • *23
  • *24
  • *25
  • *26
  • *27
  • *28
  • *31
  • *32
  • *33
  • *34
  • *35
  • *36
  • *37
  • *38
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Rapid Metabolizer
  • Ultrarapid Metabolizer
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer

CYP2C19

Named Alleles CPIC Phenotypes DPWG Phenotypes
  • *1
  • *2
  • *3
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *16
  • *17
  • *18
  • *19
  • *22
  • *23
  • *24
  • *25
  • *26
  • *28
  • *29
  • *30
  • *31
  • *32
  • *33
  • *34
  • *35
  • *38
  • *39
  • Indeterminate
  • Intermediate Metabolizer
  • Likely Intermediate Metabolizer
  • Likely Poor Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Rapid Metabolizer
  • Ultrarapid Metabolizer
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Ultrarapid Metabolizer

CYP2C9

Named Alleles CPIC Phenotypes CPIC Activity Scores DPWG Phenotypes
  • *1
  • *2
  • *3
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *16
  • *17
  • *18
  • *19
  • *20
  • *21
  • *22
  • *23
  • *24
  • *25
  • *26
  • *27
  • *28
  • *29
  • *30
  • *31
  • *32
  • *33
  • *34
  • *35
  • *36
  • *37
  • *38
  • *39
  • *40
  • *41
  • *42
  • *43
  • *44
  • *45
  • *46
  • *47
  • *48
  • *49
  • *50
  • *51
  • *52
  • *53
  • *54
  • *55
  • *56
  • *57
  • *58
  • *59
  • *60
  • *61
  • *62
  • *63
  • *64
  • *65
  • *66
  • *67
  • *68
  • *69
  • *70
  • *71
  • *72
  • *73
  • *74
  • *75
  • *76
  • *77
  • *78
  • *79
  • *80
  • *81
  • *82
  • *83
  • *84
  • *85
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • 0.0
  • 0.5
  • 1.0
  • 1.5
  • 2.0
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer

CYP2D6

Named Alleles CPIC Phenotypes CPIC Activity Scores DPWG Phenotypes
  • *1
  • *1x2
  • *1x≥3
  • *2
  • *2x2
  • *2x≥3
  • *3
  • *3x2
  • *4
  • *4x2
  • *4x≥3
  • *5
  • *6
  • *6x2
  • *7
  • *8
  • *9
  • *9x2
  • *10
  • *10x2
  • *11
  • *12
  • *13
  • *14
  • *15
  • *17
  • *17x2
  • *18
  • *19
  • *20
  • *21
  • *22
  • *23
  • *24
  • *25
  • *26
  • *27
  • *28
  • *29
  • *29x2
  • *30
  • *31
  • *32
  • *33
  • *34
  • *35
  • *35x2
  • *36
  • *36x2
  • *37
  • *38
  • *39
  • *40
  • *41
  • *41x2
  • *41x3
  • *42
  • *43
  • *43x2
  • *44
  • *45
  • *45x2
  • *46
  • *47
  • *48
  • *49
  • *50
  • *51
  • *52
  • *53
  • *54
  • *55
  • *56
  • *57
  • *58
  • *59
  • *60
  • *61
  • *62
  • *63
  • *64
  • *65
  • *68
  • *69
  • *70
  • *71
  • *72
  • *73
  • *74
  • *75
  • *81
  • *82
  • *83
  • *84
  • *85
  • *86
  • *87
  • *88
  • *89
  • *90
  • *91
  • *92
  • *93
  • *94
  • *95
  • *96
  • *97
  • *98
  • *99
  • *100
  • *101
  • *102
  • *103
  • *104
  • *105
  • *106
  • *107
  • *108
  • *109
  • *110
  • *111
  • *112
  • *113
  • *114
  • *115
  • *116
  • *117
  • *118
  • *119
  • *120
  • *121
  • *122
  • *123
  • *124
  • *125
  • *126
  • *127
  • *128
  • *129
  • *130
  • *131
  • *132
  • *133
  • *134
  • *135
  • *136
  • *137
  • *138
  • *139
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Ultrarapid Metabolizer
  • 0.0
  • 0.25
  • 0.5
  • 0.75
  • 1.0
  • 1.25
  • 1.5
  • 1.75
  • 2.0
  • 2.25
  • 2.5
  • 3.0
  • 3.5
  • 4.0
  • ≥3.0
  • ≥3.25
  • ≥3.5
  • ≥4.0
  • ≥4.5
  • ≥5.0
  • ≥6.0
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Ultrarapid Metabolizer

CYP3A4

Named Alleles DPWG Phenotypes
  • *1
  • *2
  • *3
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *16
  • *17
  • *18
  • *19
  • *20
  • *21
  • *22
  • *23
  • *24
  • *26
  • *28
  • *29
  • *30
  • *31
  • *32
  • *33
  • *34
  • *35
  • *36
  • *37
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer

CYP3A5

Named Alleles CPIC Phenotypes
  • *1
  • *3
  • *6
  • *7
  • *8
  • *9
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Possible Intermediate Metabolizer

CYP4F2

Named Alleles
  • *1
  • *2
  • *3

DPYD

Variants CPIC Phenotypes CPIC Activity Scores
  • Reference
  • c.46C>G
  • c.61C>T
  • c.62G>A
  • c.295_298delTCAT (*7)
  • c.85T>C (*9A)
  • c.313G>A
  • c.343A>G
  • c.451A>G
  • c.496A>G
  • c.498G>A
  • c.525G>A
  • c.557A>G
  • c.601A>C
  • c.632A>G
  • c.1003G>T (*11)
  • c.1156G>T (*12)
  • c.1601G>A (*4)
  • c.1627A>G (*5)
  • c.1679T>G (*13)
  • c.1898delC (*3)
  • c.1905+1G>A (*2A)
  • c.2194G>A (*6)
  • c.2657G>A (*9B)
  • c.2983G>T (*10)
  • c.703C>T (*8)
  • c.775A>G
  • c.868A>G
  • c.929T>C
  • c.934C>T
  • c.967G>A
  • c.1024G>A
  • c.1057C>T
  • c.1108A>G
  • c.1129-5923C>G, c.1236G>A (HapB3)
  • c.1180C>T
  • c.1181G>T
  • c.1218G>A
  • c.1260T>A
  • c.1278G>T
  • c.1294G>A
  • c.1314T>G
  • c.1349C>T
  • c.1358C>G
  • c.1371C>T
  • c.1403C>A
  • c.1475C>T
  • c.1484A>G
  • c.1519G>A
  • c.1543G>A
  • c.1577C>G
  • c.1615G>A
  • c.1682G>T
  • c.1774C>T
  • c.1775G>A
  • c.1777G>A
  • c.1796T>C
  • c.1896T>C
  • c.1905C>G
  • c.1906A>C
  • c.1990G>T
  • c.2021G>A
  • c.2161G>A
  • c.2186C>T
  • c.2195T>G
  • c.2279C>T
  • c.2303C>A
  • c.2336C>A
  • c.2482G>A
  • c.2582A>G
  • c.2623A>C
  • c.2639G>T
  • c.2656C>T
  • c.2846A>T
  • c.2872A>G
  • c.2915A>G
  • c.2921A>T
  • c.2933A>G
  • c.2977C>T
  • c.2978T>G
  • c.3049G>A
  • c.3061G>C
  • c.3067C>A
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • 0.0
  • 0.5
  • 1.0
  • 1.5
  • 2.0

F5

Variants DPWG Phenotypes
  • rs6025 C
  • rs6025 T (Factor V Leiden)
  • Factor V Leiden absent
  • Factor V Leiden heterozygous
  • Factor V Leiden homozygous

G6PD

Variants CPIC Phenotypes
  • 202G>A_376A>G_1264C>G
  • A
  • A- 202A_376G
  • A- 680T_376G
  • A- 968C_376G
  • Aachen
  • Abeno
  • Acrokorinthos
  • Alhambra
  • Amazonia
  • Amiens
  • Amsterdam
  • Anadia
  • Ananindeua
  • Andalus
  • Arakawa
  • Asahi
  • Asahikawa
  • Aures
  • Aveiro
  • B (reference)
  • Bajo Maumere
  • Bangkok
  • Bangkok Noi
  • Bao Loc
  • Bari
  • Belem
  • Beverly Hills, Genova, Iwate, Niigata, Yamaguchi
  • Brighton
  • Buenos Aires
  • Cairo
  • Calvo Mackenna
  • Campinas
  • Canton, Taiwan-Hakka, Gifu-like, Agrigento-like
  • Cassano
  • Chatham
  • Chikugo
  • Chinese-1
  • Chinese-5
  • Cincinnati
  • Cleveland Corum
  • Clinic
  • Coimbra Shunde
  • Cosenza
  • Costanzo
  • Covao do Lobo
  • Crispim
  • Dagua
  • Durham
  • Farroupilha
  • Figuera da Foz
  • Flores
  • Fukaya
  • Fushan
  • Gaohe
  • Georgia
  • Gidra
  • Gond
  • Guadalajara
  • Guangzhou
  • Haikou
  • Hammersmith
  • Harilaou
  • Harima
  • Hartford
  • Hechi
  • Hermoupolis
  • Honiara
  • Ierapetra
  • Ilesha
  • Insuli
  • Iowa, Walter Reed, Springfield
  • Iwatsuki
  • Japan, Shinagawa
  • Kaiping, Anant, Dhon, Sapporo-like, Wosera
  • Kalyan-Kerala, Jamnaga, Rohini
  • Kambos
  • Kamiube, Keelung
  • Kamogawa
  • Kawasaki
  • Kozukata
  • Krakow
  • La Jolla
  • Lages
  • Lagosanto
  • Laibin
  • Lille
  • Liuzhou
  • Loma Linda
  • Ludhiana
  • Lynwood
  • Madrid
  • Mahidol
  • Malaga
  • Manhattan
  • Mediterranean, Dallas, Panama‚ Sassari, Cagliari, Birmingham
  • Metaponto
  • Mexico City
  • Miaoli
  • Minnesota, Marion, Gastonia, LeJeune
  • Mira d'Aire
  • Mizushima
  • Montalbano
  • Montpellier
  • Mt Sinai
  • Munich
  • Murcia Oristano
  • Musashino
  • Namouru
  • Nankang
  • Nanning
  • Naone
  • Nara
  • Nashville, Anaheim, Portici
  • Neapolis
  • Nice
  • Nilgiri
  • No name
  • North Dallas
  • Olomouc
  • Omiya
  • Orissa
  • Osaka
  • Palestrina
  • Papua
  • Partenope
  • Pawnee
  • Pedoplis-Ckaro
  • Piotrkow
  • Plymouth
  • Praha
  • Puerto Limon
  • Quing Yan
  • Radlowo
  • Rehevot
  • Rignano
  • Riley
  • Riverside
  • Roubaix
  • S. Antioco
  • Salerno Pyrgos
  • Santa Maria
  • Santiago
  • Santiago de Cuba, Morioka
  • Sao Borja
  • Seattle, Lodi, Modena, Ferrara II, Athens-like
  • Seoul
  • Serres
  • Shenzen
  • Shinshu
  • Sibari
  • Sierra Leone
  • Sinnai
  • Songklanagarind
  • Split
  • Stonybrook
  • Sugao
  • Sumare
  • Sunderland
  • Surabaya
  • Suwalki
  • Swansea
  • Taipei‚ Chinese-3
  • Telti/Kobe
  • Tenri
  • Tokyo, Fukushima
  • Toledo
  • Tomah
  • Tondela
  • Torun
  • Tsukui
  • Ube Konan
  • Union,Maewo, Chinese-2, Kalo
  • Urayasu
  • Utrecht
  • Valladolid
  • Vancouver
  • Vanua Lava
  • Viangchan, Jammu
  • Volendam
  • Wayne
  • West Virginia
  • Wexham
  • Wisconsin
  • Yunan
  • Deficient
  • Deficient with CNSHA
  • Indeterminate
  • Normal
  • Variable

IFNL3

Variants
  • rs12979860 reference (C)
  • rs12979860 variant (T)

MT-RNR1

Variants CPIC Phenotypes
  • 663A>G
  • 669T>C
  • 747A>G
  • 786G>A
  • 807A>C
  • 807A>G
  • 827A>G
  • 839A>G
  • 896A>G
  • 930A>G
  • 951G>A
  • 960C>del
  • 961T>G
  • 961T>del
  • 961T>del+Cn
  • 988G>A
  • 1095T>C
  • 1189T>C
  • 1243T>C
  • 1494C>T
  • 1520T>C
  • 1537C>T
  • 1555A>G
  • 1556C>T
  • Reference
  • increased risk of aminoglycoside-induced hearing loss
  • normal risk of aminoglycoside-induced hearing loss
  • uncertain risk of aminoglycoside-induced hearing loss

NUDT15

Named Alleles CPIC Phenotypes DPWG Phenotypes
  • *1
  • *2
  • *3
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *16
  • *17
  • *18
  • *19
  • *20
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Possible Intermediate Metabolizer
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer

RYR1

Variants CPIC Phenotypes
  • Reference
  • c.103T>C
  • c.130C>T
  • c.487C>T
  • c.488G>T
  • c.742G>A
  • c.742G>C
  • c.982C>T
  • c.1021G>A
  • c.1021G>C
  • c.1201C>T
  • c.1209C>G
  • c.1565A>C
  • c.1589G>A
  • c.1597C>T
  • c.1598G>A
  • c.1654C>T
  • c.1840C>T
  • c.1841G>T
  • c.6487C>T
  • c.6488G>A
  • c.6502G>A
  • c.6617C>G
  • c.6617C>T
  • c.7007G>A
  • c.7042_7044delGAG
  • c.7048G>A
  • c.7063C>T
  • c.7124G>C
  • c.7282G>A
  • c.7300G>A
  • c.7304G>A
  • c.7354C>T
  • c.7360C>T
  • c.7361G>A
  • c.7372C>T
  • c.7373G>A
  • c.7522C>G
  • c.7522C>T
  • c.7523G>A
  • c.9310G>A
  • c.11969G>T
  • c.14387A>G
  • c.14477C>T
  • c.14497C>T
  • c.14512C>G
  • c.14545G>A
  • c.14582G>A
  • c.14693T>C
  • Malignant Hyperthermia Susceptibility
  • Uncertain Susceptibility

SLCO1B1

Named Alleles CPIC Phenotypes
  • *1
  • *2
  • *3
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *16
  • *19
  • *20
  • *23
  • *24
  • *25
  • *26
  • *27
  • *28
  • *29
  • *30
  • *31
  • *32
  • *33
  • *34
  • *36
  • *37
  • *38
  • *39
  • *40
  • *41
  • *42
  • *43
  • *44
  • *45
  • *46
  • *47
  • Decreased Function
  • Increased Function
  • Indeterminate
  • Normal Function
  • Poor Function
  • Possible Decreased Function

TPMT

Named Alleles CPIC Phenotypes DPWG Phenotypes
  • *1
  • *2
  • *3A
  • *3B
  • *3C
  • *4
  • *5
  • *6
  • *7
  • *8
  • *9
  • *10
  • *11
  • *12
  • *13
  • *14
  • *15
  • *16
  • *17
  • *18
  • *19
  • *20
  • *21
  • *22
  • *23
  • *24
  • *25
  • *26
  • *27
  • *28
  • *29
  • *30
  • *31
  • *32
  • *33
  • *34
  • *35
  • *36
  • *37
  • *38
  • *39
  • *40
  • *41
  • *42
  • *43
  • *44
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Possible Intermediate Metabolizer
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer

UGT1A1

Variants CPIC Phenotypes DPWG Phenotypes
  • *1
  • *6
  • *27
  • *28
  • *36
  • *37
  • *80
  • *80+*28
  • *80+*37
  • Indeterminate
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer
  • Intermediate Metabolizer
  • Normal Metabolizer
  • Poor Metabolizer

VKORC1

Variants
  • rs9923231 reference (C)
  • rs9923231 variant (T)

PharmCAT is managed at Stanford University & University of Pennsylvania (NHGRI U24HG010862).