PGx Star Allele Coverage

Theoretical Coverage

The PGx genes and star/variant alleles listed below can be detected by DRAGEN Array v1.1 if available on the microarray. Known and novel star alleles not in the below list will not be reported. Star allele definitions are sourced from PharmVar and PharmGKB.

Among the PGx genes, HLA-A, HLA-B, and IFNL3/IFNL4 alleles are covered through tagging variants, specifically HLA-A,*31:01 (rs1061235.A>T); HLA-B,*15:02 (rs144012689.T>A); HLA-B,*57:01 (rs2395029.T>G); HLA-B,*58:01 (rs9263726.G>A); IFNL3/4, rs12979860 variant (T). Reliability of the tagging SNPs varies depending on the population. Additional information on PGx gene types, variant type versus star allele type, can be found here: Introducing-dragen-array-1-0-for-infinium-array-based-pharmacogenomics-analysis

GenePGx Alleles

ABCG2

Reference;rs2231142.G>T

ADH1B

Reference;rs1229984.T>C;rs1229984.T>G;rs1229985.A>G;rs17033.T>C;rs1789891.C>A;rs2018417.C>A;rs2018417.C>T;rs2066702.G>A;rs75967634.C>T

ALDH2

Reference;rs671.G>A

ANK3

Reference;rs143414470.T>C

ANKK1

Reference;rs1800497.G>A;rs2587550.G>A;rs2734849.A>C;rs2734849.A>G;rs4938013.A>C;rs4938013.A>G;rs4938013.A>T;rs7118900.G>A;rs7118900.G>C

APOE

E2;E3;E4

ATM

Reference;rs11212570.G>A;rs11212570.G>T;rs11212617.C>A;rs1801516.G>A;rs620815.T>A;rs620815.T>C

BDNF

Reference;rs10835210.C>A;rs10835210.C>G;rs11030101.A>G;rs11030101.A>T;rs11030104.A>G;rs11030118.G>A;rs11030119.G>A;rs11030119.G>T;rs1491850.T>C;rs16917234.T>A;rs16917234.T>C;rs1967554.A>C;rs2030324.A>G;rs61888800.G>T;rs6265.C>T;rs7103411.C>T;rs7124442.C>G;rs7124442.C>T;rs7127507.T>C;rs7934165.G>A;rs962369.T>C;rs988748.C>G

CACNA1C

Reference;rs1006737.G>A;rs1034936.C>A;rs1034936.C>G;rs1034936.C>T;rs1051375.G>A;rs1051375.G>C;rs10774053.A>C;rs10774053.A>G;rs10848635.T>A;rs10848635.T>C;rs11062040.C>T;rs12813888.A>C;rs12813888.A>T;rs2041135.T>C;rs215976.C>G;rs215976.C>T;rs215994.T>C;rs216008.C>T;rs216013.A>G;rs2238032.T>C;rs2238032.T>G;rs2238087.C>G;rs2238087.C>T;rs2239050.G>A;rs2239050.G>C;rs2239128.T>A;rs2239128.T>C;rs2283271.T>A;rs723672.C>A;rs723672.C>G;rs723672.C>T;rs7295250.T>C;rs7316246.G>A;rs7316246.G>C;rs758723.T>A;rs758723.T>C

CACNA1S

Reference;rs1800559.C>A;rs1800559.C>T;rs772226819.G>A

CFTR

Reference;rs113993958.G>A;rs113993958.G>C;rs113993958.G>T;rs115545701.C>T;rs11971167.G>A;rs11971167.G>T;rs121908752.T>G;rs121908753.G>A;rs121908755.G>A;rs121908755.G>T;rs121908757.A>C;rs121909005.T>C;rs121909005.T>G;rs121909013.G>A;rs121909020.G>A;rs121909020.G>C;rs121909041.T>C;rs141033578.C>T;rs150212784.T>C;rs150212784.T>G;rs186045772.T>A;rs193922525.G>A;rs193922525.G>C;rs200321110.G>A;rs202179988.C>T;rs267606723.G>A;rs267606723.G>T;rs368505753.C>T;rs397508256.G>A;rs397508288.A>C;rs397508288.A>G;rs397508387.G>T;rs397508442.C>T;rs397508513.A>C;rs397508537.C>A;rs397508759.G>A;rs397508759.G>T;rs397508761.A>G;rs74503330.G>A;rs74551128.C>A;rs74551128.C>T;rs75039782.C>G;rs75039782.C>T;rs75527207.G>A;rs75541969.G>C;rs76151804.A>G;rs77834169.C>A;rs77834169.C>G;rs77834169.C>T;rs77932196.G>A;rs77932196.G>C;rs77932196.G>T;rs78655421.G>A;rs78655421.G>C;rs78655421.G>T;rs78769542.G>A;rs80224560.G>A;rs80282562.G>A

COMT

Reference;rs13306278.C>T;rs165599.G>A;rs165599.G>C;rs165722.C>T;rs165728.C>A;rs165728.C>G;rs165728.C>T;rs165774.G>A;rs174675.T>C;rs174696.C>A;rs174696.C>T;rs174699.C>T;rs2020917.C>T;rs2075507.G>A;rs2075507.G>C;rs2075507.G>T;rs2239393.A>G;rs4633.C>T;rs4646312.T>C;rs4646316.C>G;rs4646316.C>T;rs4680.G>A;rs4818.C>G;rs4818.C>T;rs5746849.A>G;rs5993882.T>C;rs5993882.T>G;rs5993883.T>G;rs6267.G>A;rs6267.G>T;rs6269.A>G;rs6269.A>T;rs7287550.T>C;rs7287550.T>G;rs737865.A>G;rs737866.T>A;rs737866.T>C;rs740603.A>G;rs9332377.C>A;rs9332377.C>T;rs933271.T>A;rs933271.T>C;rs9606186.C>A;rs9606186.C>G;rs9606186.C>T

CYP1A2

*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*1A;*1B;*1C;*1D;*1E;*1F;*1G;*1J;*1K;*1L;*1M;*1N;*1P;*1Q;*1R;*1S;*1T;*1U;*1V;*2;*20;*21;*3;*4;*5;*6;*7;*8;*9

CYP2A6

*1;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*1x2;*2;*20;*21;*22;*23;*24;*25;*26;*27;*28;*31;*34;*35;*36;*37;*38;*39;*4;*40;*41;*42;*43;*44;*45;*46;*48;*49;*5;*50;*51;*52;*53;*54;*55;*56;*6;*7;*8;*9

CYP2B6

*1;*10;*11;*12;*13;*14;*15;*17;*18;*19;*2;*20;*21;*22;*23;*24;*25;*26;*27;*28;*3;*31;*32;*33;*34;*35;*36;*37;*38;*39;*4;*40;*41;*42;*43;*44;*45;*46;*47;*48;*49;*5;*6;*7;*8;*9

CYP2C19

*1;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*2;*22;*23;*24;*25;*26;*28;*29;*3;*30;*31;*32;*33;*34;*35;*38;*39;*4;*5;*6;*7;*8;*9

CYP2C8

*1;*10;*11;*12;*13;*14;*15;*16;*17;*18;*2;*3;*4;*5;*6;*7;*8;*9

CYP2C9

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

CYP2D6

*1;*1-*90;*10;*100;*101;*102;*103;*104;*105;*106;*107;*108;*109;*10x2;*11;*110;*111;*112;*113;*114;*115;*116;*117;*118;*119;*12;*120;*121;*122;*123;*124;*125;*126;*127;*128;*129;*13;*13-*1;*13-*2;*13-*4-*68;*130;*131;*132;*133;*134;*135;*136;*137;*138;*139;*13x2-*1;*13x2-*2;*14;*140;*141;*142;*143;*144;*145;*146;*147;*148;*149;*15;*150;*151;*152;*153;*154;*155;*156;*157;*158;*159;*160;*161;*162;*163;*164;*165;*166;*167;*168;*169;*17;*170;*171;*172;*17x2;*18;*19;*1x2;*2;*20;*21;*22;*23;*24;*25;*26;*27;*28;*29;*29x2;*2x2;*3;*30;*31;*32;*33;*34;*35;*35x2;*36;*36;*36-*10;*36-*10x2;*36x2-*10;*36x3-*10;*37;*38;*39;*4;*40;*41;*42;*43;*43x2;*44;*45;*46;*47;*48;*49;*4M;*4N-*4;*4x2;*5;*50;*51;*52;*53;*54;*55;*56;*58;*59;*6;*60;*62;*64;*65;*68;*68-*4;*69;*7;*70;*71;*72;*73;*74;*75;*8;*81;*82;*83;*84;*85;*86;*87;*88;*89;*9;*90;*91;*92;*93;*94;*95;*96;*97;*98;*99;*9x2

CYP2E1

*1A;*1B;*2;*3;*4;*5A;*5B;*6;*7A;*7B;*7C

CYP3A4

*1;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*2;*20;*21;*22;*23;*24;*26;*28;*29;*3;*30;*31;*32;*33;*34;*35;*37;*38;*39;*4;*40;*41;*42;*43;*44;*45;*46;*47;*48;*5;*6;*7;*8;*9

CYP3A5

*1;*3;*6;*7;*8;*9

CYP4F2

*1;*10;*11;*12;*13;*14;*15;*17;*2;*3;*4;*5;*6;*7;*8;*9

DPYD

Reference;rs111858276.T>C;rs112766203.1.G>A;rs112766203.2.G>C;rs114096998.1.G>T;rs114096998.2.G>A;rs114096998.2.G>C;rs115232898.T>C;rs116364703.T>A;rs1180771326.T>C;rs137878450.C>A;rs137999090.C>T;rs138391898.C>T;rs138545885.C>A;rs138616379.C>T;rs139459586.A>C;rs139834141.C>T;rs140039091.C>G;rs140114515.C>T;rs140602333.G>A;rs140602333.G>T;rs140989814.C>G;rs141044036.T>C;rs141439344.C>T;rs141462178.T>C;rs141726921.C>T;rs142512579.C>T;rs142619737.C>G;rs142619737.C>T;rs143154602.G>A;rs143154602.G>T;rs143815742.1.C>A;rs143815742.2.C>T;rs143879757.1.G>T;rs143879757.2.G>A;rs143986398.G>C;rs144395748.1.G>C;rs144395748.2.G>T;rs144935781.T>C;rs145112791.G>A;rs145529148.T>C;rs145548112.C>A;rs145548112.C>T;rs145773863.C>T;rs146356975.T>C;rs146529561.G>A;rs147545709.G>A;rs147601618.A>G;rs148799944.C>G;rs148994843.C>T;rs150036960.G>C;rs150385342.1.C>T;rs150385342.2.C>A;rs150437414.A>G;rs151074666.C>T;rs17376848.A>G;rs1801158.C>T;rs1801159.T>C;rs1801160.C>T;rs1801265.A>G;rs1801266.G>A;rs1801267.C>T;rs1801268.C>A;rs183105782.A>G;rs183385770.C>T;rs186169810.A>C;rs187713395.A>G;rs188052243.T>C;rs190577302.G>C;rs190951787.G>C;rs190951787.G>T;rs199549923.G>T;rs199634007.G>T;rs199646142.C>T;rs199777072.C>T;rs200064537.A>T;rs200296941.T>C;rs200562975.T>C;rs200643089.A>C;rs200687447.1.C>T;rs200687447.2.C>A;rs200687447.2.C>G;rs200693895.A>G;rs200709381.T>G;rs201018345.C>T;rs201035051.T>G;rs201268750.G>T;rs201433243.C>T;rs201615754.1.C>A;rs201615754.2.C>T;rs201648613.C>G;rs201785202.G>A;rs202144771.G>A;rs202212118.C>A;rs2297595.T>C;rs267598785.G>A;rs267598786.C>T;rs267598789.G>A;rs367619008.T>C;rs368146607.T>G;rs368152149.T>C;rs368327291.C>G;rs368519011.T>C;rs368970772.G>T;rs369103276.A>G;rs369575517.G>A;rs370569731.1.C>G;rs370569731.2.C>T;rs370615432.C>A;rs370707404.A>G;rs371258350.C>T;rs371313778.C>T;rs371587702.1.G>A;rs371587702.2.G>C;rs371792178.1.G>A;rs371792178.2.G>C;rs372058915.T>C;rs372307932.A>T;rs372909322.T>C;rs374527058.A>G;rs374531732.C>T;rs374825099.1.G>T;rs374825099.2.G>C;rs374827081.G>C;rs375436137.C>T;rs375990187.A>G;rs376073289.1.C>T;rs376073289.2.C>A;rs376128878.G>T;rs376273539.G>C;rs377143350.C>T;rs377169736.C>G;rs3918289.G>A;rs3918289.G>C;rs3918290.C>G;rs3918290.C>T;rs45589337.T>C;rs527580106.T>C;rs528152707.C>A;rs528430685.G>A;rs528768620.C>T;rs529019871.T>C;rs532341730.A>T;rs536577604.T>C;rs538336580.T>A;rs538703919.G>A;rs547099198.G>A;rs548783838.C>T;rs55674432.C>A;rs556933127.A>C;rs557220418.G>A;rs558354142.G>A;rs55886062.1.A>C;rs55886062.2.A>T;rs559427764.C>A;rs55971861.T>G;rs56005131.G>T;rs56038477.C>T;rs568169006.T>C;rs568367673.C>A;rs569661196.A>G;rs570122671.G>A;rs571114616.A>G;rs573299212.C>T;rs575763449.G>A;rs575853463.C>T;rs576409484.T>A;rs57918000.G>A;rs59086055.G>A;rs60139309.T>C;rs60511679.A>C;rs61622928.C>T;rs61757362.G>A;rs6670886.C>A;rs6670886.C>T;rs672601273.1.C>A;rs672601273.2.C>T;rs672601275.T>G;rs672601276.C>A;rs672601282.G>A;rs672601284.C>T;rs672601285.T>C;rs672601287.T>G;rs672601288.C>A;rs67376798.T>A;rs72547601.T>C;rs72547602.T>A;rs72549303.del;rs72549304.G>A;rs72549304.G>C;rs72549304.G>T;rs72549305.T>C;rs72549306.1.C>A;rs72549306.2.C>T;rs72549307.T>C;rs72549308.T>G;rs72549309.ATGA[1];rs72549310.G>A;rs72975710.1.G>A;rs72975710.2.G>C;rs745512069.G>A;rs745704371.G>C;rs745833535.T>C;rs745911874.C>T;rs745982505.1.T>C;rs745982505.2.T>A;rs746115989.C>T;rs746329786.T>A;rs746777181.C>T;rs747132274.C>G;rs747161261.C>T;rs747627716.A>C;rs747633945.C>T;rs747858350.G>A;rs747872037.C>A;rs748214188.A>T;rs748235192.1.T>A;rs748235192.2.T>C;rs748266854.G>A;rs748320430.A>C;rs748620513.C>A;rs748620513.C>G;rs748639205.A>C;rs748639205.A>G;rs748853941.T>C;rs748958293.G>A;rs748974194.G>A;rs749157068.C>A;rs749269410.C>T;rs749354734.A>T;rs749586100.T>A;rs749699298.A>C;rs749982106.G>A;rs750147471.T>C;rs75017182.G>C;rs750224169.G>A;rs750423752.A>C;rs750687600.C>T;rs750721736.A>T;rs751049055.C>A;rs751104498.T>C;rs751113340.G>A;rs751190912.G>A;rs751340819.A>G;rs751374989.T>A;rs751399062.G>T;rs751841116.1.C>A;rs751841116.2.C>T;rs751848058.T>A;rs752020412.C>T;rs752228747.G>A;rs752388408.C>T;rs752518145.C>A;rs752985272.C>A;rs753166888.C>G;rs753217888.G>C;rs753296078.C>G;rs753419296.C>G;rs753527420.C>G;rs753707032.G>A;rs753710779.G>A;rs753820482.T>C;rs753950237.G>A;rs754028972.A>G;rs754125729.1.G>A;rs754125729.2.G>T;rs754467630.G>A;rs754786483.T>C;rs755155824.C>A;rs755407188.T>G;rs755416212.C>T;rs755428442.C>G;rs755645831.A>C;rs755692084.T>G;rs755729055.T>C;rs756020314.G>C;rs756372042.A>G;rs756613407.T>C;rs756684474.T>C;rs756890859.T>C;rs756992995.C>T;rs757155354.T>C;rs757227327.C>T;rs757342874.C>T;rs757376267.C>A;rs757695236.C>T;rs757954074.C>T;rs757958938.T>C;rs757994597.G>A;rs758154803.A>G;rs758489611.C>T;rs758514990.C>T;rs758649719.C>T;rs758699471.T>C;rs759082282.C>A;rs759249769.G>T;rs759424419.A>T;rs759479759.T>C;rs759562628.T>G;rs759766897.T>C;rs759967863.A>G;rs760038956.C>T;rs760222167.T>C;rs760235888.C>T;rs760485592.G>A;rs760553268.G>C;rs760570391.A>G;rs760663364.G>A;rs760663364.G>C;rs761302217.T>C;rs761351410.G>A;rs761479700.G>C;rs761555670.T>C;rs761609256.T>G;rs762083671.T>A;rs762102298.A>C;rs762198241.G>A;rs762430779.G>T;rs762446803.A>C;rs762468894.G>C;rs762523739.T>A;rs762533012.C>T;rs762598766.T>C;rs762779297.T>C;rs762858106.C>T;rs762911226.T>A;rs763008163.T>G;rs763061658.A>G;rs763449831.C>T;rs763506271.T>C;rs763557204.A>G;rs763572567.T>G;rs763623595.A>C;rs763784786.G>C;rs763862486.C>T;rs763893877.T>C;rs763984510.G>C;rs764111543.C>T;rs764270260.G>A;rs764555085.A>G;rs764635955.G>T;rs764666241.C>A;rs764679468.A>C;rs764945792.C>T;rs765001324.C>T;rs765034707.C>A;rs765075551.T>C;rs765131182.G>A;rs765247038.G>A;rs765309287.G>T;rs765465250.T>C;rs765640386.C>A;rs765990958.G>A;rs766411970.A>C;rs766438205.T>C;rs766635900.C>T;rs766700777.C>G;rs766761199.T>G;rs766833304.G>C;rs766885021.A>C;rs767200577.T>C;rs767376585.C>G;rs767437717.G>T;rs767464878.C>A;rs767468952.C>T;rs767482279.A>G;rs767547827.G>C;rs767818267.C>T;rs767836989.T>C;rs767986711.T>G;rs768117152.T>C;rs768157853.G>C;rs768200107.T>G;rs768288280.T>C;rs768501828.T>C;rs768507975.A>T;rs768680499.G>T;rs768915005.C>T;rs769190350.T>A;rs769306962.C>T;rs769466648.1.T>G;rs769466648.2.T>C;rs769514867.G>T;rs769696395.T>C;rs769709846.T>C;rs769820114.C>T;rs769847078.T>C;rs769932607.G>A;rs770229152.T>A;rs770566506.A>G;rs770958862.G>A;rs771194906.A>G;rs771534236.T>C;rs771536388.C>T;rs771573678.T>A;rs771646887.C>T;rs771648776.T>C;rs771885007.A>G;rs771930534.1.A>T;rs771930534.2.A>G;rs772097379.G>A;rs772264512.G>A;rs772320654.T>C;rs772358811.C>G;rs772544099.G>T;rs772826416.A>G;rs772906420.C>T;rs773159364.C>G;rs773407491.T>C;rs773584401.C>A;rs773652644.T>C;rs773815814.1.C>A;rs773815814.2.C>T;rs773868825.C>T;rs773983635.A>T;rs774134971.T>C;rs774500505.A>T;rs774579695.1.C>T;rs774799003.G>A;rs774883578.A>C;rs775494607.G>A;rs775526810.C>A;rs775570841.G>C;rs775601164.G>A;rs775926386.G>C;rs776082092.C>T;rs776236081.C>T;rs776289153.C>T;rs776321529.G>C;rs776662759.T>G;rs776973423.C>T;rs776984091.T>C;rs777220476.1.C>T;rs777220476.2.C>A;rs777238016.T>C;rs777347164.C>T;rs777368221.A>C;rs777425216.C>A;rs777425216.C>T;rs777560627.G>A;rs777673186.G>C;rs777902288.T>A;rs778022685.C>T;rs778054451.C>T;rs778141885.T>C;rs778298325.C>T;rs778601245.C>T;rs778754188.A>G;rs778760295.C>G;rs778776264.T>C;rs778867644.T>C;rs778911905.A>C;rs779465366.A>G;rs779557503.G>A;rs779573574.T>A;rs779728902.A>T;rs779925747.T>G;rs779967271.T>C;rs780025995.G>A;rs780047918.T>C;rs780120302.T>C;rs78060119.C>A;rs780813130.C>T;rs780873985.T>C;rs780885126.T>C;rs781184141.T>C;rs80081766.C>T;rs866110709.C>T;rs866869468.C>A;rs867143119.C>A;rs867226255.C>T;rs867232786.C>T;rs867600987.C>T;rs868047175.C>T;rs868235016.C>T

DRD2

Reference;rs1076560.C>A;rs1076560.C>G;rs1076563.A>C;rs1079596.C>A;rs1079596.C>T;rs1079597.C>T;rs1079598.A>G;rs1079598.A>T;rs1110976.T>G;rs11214607.T>G;rs1124491.G>A;rs1124491.G>C;rs1124493.T>G;rs1125394.T>C;rs12364283.A>G;rs12574471.C>G;rs12574471.C>T;rs17601612.G>C;rs1799732._113475530insG;rs1799732.dup;rs1799978.T>C;rs1800497.G>A;rs1800498.G>A;rs1801028.G>C;rs2075652.G>A;rs2234689.G>C;rs2283265.C>A;rs2440390.T>C;rs2514218.C>T;rs2587548.G>A;rs2587548.G>C;rs2734833.G>A;rs2734841.A>C;rs2734841.A>G;rs2734841.A>T;rs2734842.G>C;rs4274224.G>A;rs4274224.G>C;rs4436578.C>G;rs4436578.C>T;rs4460839.C>G;rs4460839.C>T;rs4648317.G>A;rs4648318.T>A;rs4648318.T>C;rs4648318.T>G;rs4936274.A>G;rs4936274.A>T;rs6275.A>G;rs6277.G>A;rs6279.G>C;rs7122246.G>A;rs7131056.A>C;rs7131056.A>G;rs7131440.C>T

F13A1

Reference;rs5985.C>A;rs5985.C>T

F2

Reference;rs1799963.G>A;rs3136516.G>A;rs5896.C>G;rs5896.C>T

F5

Reference;rs6025.C>T

FKBP5

Reference;rs1360780.T>A;rs1360780.T>C;rs17614642.T>C;rs3800373.C>A;rs3800373.C>G;rs4713916.A>C;rs4713916.A>G;rs4713916.A>T;rs73748206.C>T;rs9380524.C>A;rs9380524.C>T

G6PD

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 Haplotype;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;Villeurbanne;Volendam;Wayne;West Virginia;Wexham;Wisconsin;Yunan

GRIK1

Reference;rs2832407.C>A;rs2832407.C>T

GRIK4

Reference;rs12800734.G>A;rs1954787.T>C

GRIN2B

Reference;rs1019385.C>A;rs1072388.G>A;rs1072388.G>C;rs1806191.G>A;rs1806191.G>T;rs1806201.G>A;rs2058878.T>A;rs2058878.T>C;rs2160733.A>C;rs2160734.C>G;rs2160734.C>T;rs2284411.C>T;rs890.A>C;rs890.A>G

HLA-A

*31:01;Reference

HLA-B

*15:02;*57:01;*58:01;Reference

HMGCR

Reference;rs10474433.T>C;rs10474433.T>G;rs12654264.A>T;rs17238540.T>G;rs17244841.A>T;rs17671591.C>T;rs3846662.A>G;rs3846662.A>T

HTR2A

Reference;rs17288723.T>C;rs17289304.T>C;rs17289304.T>G;rs1928040.G>A;rs1928040.G>C;rs2274639.C>G;rs2274639.C>T;rs2770296.C>G;rs2770296.C>T;rs3742278.A>G;rs3803189.T>G;rs6305.G>A;rs6311.C>A;rs6311.C>T;rs6312.C>A;rs6312.C>G;rs6312.C>T;rs6313.G>A;rs6313.G>C;rs6314.G>A;rs659734.G>A;rs659734.G>C;rs659734.G>T;rs7997012.A>C;rs7997012.A>G;rs7997012.A>T;rs9316233.C>A;rs9316233.C>G;rs9316233.C>T;rs9567746.A>C;rs9567746.A>G

HTR2C

Reference;rs1023574.C>G;rs1023574.C>T;rs12836771.A>G;rs1414334.C>G;rs2497538.A>C;rs3813928.G>A;rs3813929.C>G;rs3813929.C>T;rs498207.G>A;rs518147.C>A;rs518147.C>G;rs539748.C>T;rs6318.C>G;rs6318.C>T;rs9698290.T>A;rs9698290.T>C

IFNL3/4

Reference;rs12979860 variant (T)

IL6

Reference;rs10242595.G>A;rs10242595.G>C;rs10242595.G>T;rs10499563.T>C;rs1524107.C>G;rs1524107.C>T;rs1800795.C>G;rs1800795.C>T;rs1800796.G>A;rs1800796.G>C;rs1800797.A>C;rs1800797.A>G;rs1800797.A>T;rs2066992.G>A;rs2066992.G>C;rs2066992.G>T;rs2069835.T>C;rs2069837.A>C;rs2069837.A>G;rs2069840.C>G

ITGB3

Reference;rs11871251.G>A;rs11871251.G>C;rs2317676.A>G;rs3785873.G>A;rs3785873.G>T;rs58847127.G>A;rs58847127.G>C;rs58847127.G>T;rs5918.T>C;rs8069732.C>A;rs8069732.C>T

KIF6

Reference;rs20455.A>G;rs9462535.C>A;rs9462535.C>G;rs9462535.C>T;rs9471077.A>G

LPA

Reference;rs10455872.A>G;rs3798220.T>C

MT-RNR1

NC_012920.1:m.1520T>C;NC_012920.1:m.1537C>T;NC_012920.1:m.1556C>T;NC_012920.1:m.669T>C;NC_012920.1:m.747A>G;NC_012920.1:m.786G>A;NC_012920.1:m.807A>C;NC_012920.1:m.807A>G;NC_012920.1:m.839A>G;NC_012920.1:m.896A>G;NC_012920.1:m.930A>G;NC_012920.1:m.960delC;NC_012920.1:m.988G>A;Reference;rs1556422499.delT;rs200887992.G>A;rs267606617.A>G;rs267606618.T>C;rs267606619.C>T;rs28358569.A>G;rs28358571.T>C;rs28358572.T>C;rs3888511.T>G;rs56489998.A>G

MTHFR

Reference;rs1476413.C>G;rs1476413.C>T;rs17367504.A>G;rs17421511.G>A;rs1801131.T>G;rs1801133.G>A;rs1801133.G>C;rs2274976.C>T;rs3737967.G>A;rs4846051.G>A;rs4846051.G>C;rs4846051.G>T

NUDT15

*1;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*2;*20;*3;*4;*5;*6;*7;*8;*9

OPRD1

Reference;rs1042114.G>C;rs1042114.G>T;rs10753331.G>A;rs10753331.G>T;rs12749204.A>G;rs204047.G>C;rs204047.G>T;rs204055.T>A;rs204055.T>C;rs204069.A>G;rs204076.T>A;rs204076.T>C;rs204076.T>G;rs2234918.C>G;rs2234918.C>T;rs2236855.C>A;rs2236855.C>G;rs2236857.T>C;rs2236861.G>A;rs2298895.A>T;rs2298896.T>G;rs2298897.C>G;rs3766951.T>C;rs419335.A>G;rs421300.A>C;rs421300.A>G;rs4654327.G>A;rs4654327.G>T;rs482387.G>A;rs482387.G>C;rs508448.A>G;rs529520.A>C;rs529520.A>G;rs533123.G>A;rs533123.G>C;rs569356.A>G;rs581111.A>C;rs581111.A>G;rs581111.A>T;rs6669447.T>C;rs678849.C>G;rs678849.C>T;rs680090.G>A;rs760589.G>A;rs797397.G>A

OPRK1

Reference;rs10111937.C>T;rs1051660.C>A;rs1051660.C>G;rs1051660.C>T;rs16918842.C>A;rs16918842.C>T;rs16918875.G>A;rs16918909.A>G;rs16918941.A>G;rs3802279.C>T;rs3802281.T>C;rs3808627.C>G;rs3808627.C>T;rs6473797.T>C;rs6473799.A>G;rs6985606.T>A;rs6985606.T>C;rs7016778.A>T;rs702764.T>C;rs702764.T>G;rs7813478.T>C;rs963549.C>T;rs997917.T>C

OPRM1

Reference;rs10457090.A>G;rs10457090.A>T;rs10485057.A>G;rs10485058.A>G;rs10485060.C>A;rs1074287.A>G;rs11575856.G>A;rs12190259.A>C;rs12205732.G>A;rs12209447.C>T;rs12210856.T>G;rs1294092.A>G;rs1319339.T>A;rs1319339.T>C;rs13195018.A>C;rs13195018.A>T;rs13203628.A>G;rs1323040.A>G;rs1323042.G>C;rs1323042.G>T;rs1381376.C>A;rs1381376.C>G;rs1381376.C>T;rs1461773.G>A;rs17174629.A>G;rs17174794.C>G;rs17174794.C>T;rs17174801.A>G;rs17180982.dup;rs17181352.A>G;rs1799971.A>G;rs1799972.C>A;rs1799972.C>G;rs1799972.C>T;rs1852629.T>A;rs1852629.T>C;rs1852629.T>G;rs2010884.G>A;rs2075572.G>C;rs2236256.C>A;rs2236257.G>C;rs2236258.C>G;rs2236258.C>T;rs2236259.T>A;rs2236259.T>C;rs2236259.T>G;rs2281617.C>G;rs2281617.C>T;rs3778148.G>T;rs3778150.T>C;rs3778151.T>C;rs3778152.A>G;rs3778156.A>G;rs3798676.C>T;rs3798677.A>G;rs3798678.A>C;rs3798678.A>G;rs3798683.G>A;rs3798688.G>T;rs3823010.G>A;rs483481.G>A;rs483481.G>C;rs4870266.G>A;rs495491.A>G;rs497976.G>A;rs497976.G>T;rs499796.A>G;rs506247.A>C;rs510769.C>T;rs511435.C>G;rs511435.C>T;rs518596.G>A;rs524731.C>A;rs527434.T>A;rs527434.T>C;rs538174.T>C;rs540825.A>C;rs540825.A>G;rs540825.A>T;rs544093.G>A;rs544093.G>T;rs548646.T>A;rs548646.T>C;rs548646.T>G;rs553202.C>T;rs558025.A>G;rs558948.C>G;rs558948.C>T;rs562859.C>A;rs562859.C>G;rs562859.C>T;rs563649.C>T;rs569284.A>C;rs583664.T>C;rs589046.C>T;rs598160.G>A;rs598160.G>C;rs598682.A>C;rs598682.A>G;rs598682.A>T;rs599548.G>A;rs606545.G>A;rs606545.G>C;rs609148.G>A;rs609148.G>T;rs609623.T>A;rs609623.T>C;rs610231.G>A;rs610231.G>C;rs613355.C>A;rs613355.C>G;rs613355.C>T;rs618207.A>C;rs618207.A>G;rs618207.A>T;rs62436463.C>T;rs62638690.G>T;rs632499.A>C;rs632499.A>G;rs632499.A>T;rs639855.C>A;rs639855.C>G;rs642489.G>A;rs642489.G>T;rs644261.G>A;rs644261.G>C;rs644261.G>T;rs645027.A>G;rs647192.G>A;rs647192.G>C;rs648007.A>C;rs648007.A>G;rs648893.A>G;rs650825.G>A;rs6557337.C>A;rs6557337.C>T;rs658156.A>C;rs658156.A>G;rs658156.A>T;rs671531.A>G;rs671531.A>T;rs675026.A>C;rs675026.A>G;rs677830.C>A;rs677830.C>G;rs677830.C>T;rs681243.T>A;rs681243.T>C;rs6902403.T>C;rs6912029.G>T;rs73576470.A>G;rs7748401.T>G;rs7763748.C>A;rs7763748.C>T;rs7776341.A>C;rs79910351.C>T;rs9282815.C>A;rs9282815.C>T;rs9322446.G>A;rs9322447.A>C;rs9322447.A>G;rs9322447.A>T;rs9322453.G>C;rs9371773.G>A;rs9371776.G>A;rs9384174.C>G;rs9384174.C>T;rs9384179.G>A;rs9384179.G>T;rs9397685.A>G;rs9397685.A>T;rs9397687.C>T;rs9479757.G>A;rs9479779.A>G

RYR1

NC_000019.10:g.38440818G>C;NC_000019.10:g.38444179C>A;NC_000019.10:g.38444252G>T;NC_000019.10:g.38444257A>C;NC_000019.10:g.38444257A>G;NC_000019.10:g.38448680_38448681insGGA;NC_000019.10:g.38448715G>A;NC_000019.10:g.38451785C>A;NC_000019.10:g.38452985C>T;NC_000019.10:g.38455253C>G;NC_000019.10:g.38455254T>C;NC_000019.10:g.38455347T>C;NC_000019.10:g.38455504G>T;NC_000019.10:g.38466392G>A;NC_000019.10:g.38469404A>C;NC_000019.10:g.38485679T>C;NC_000019.10:g.38486095A>G;NC_000019.10:g.38490642A>C;NC_000019.10:g.38494454G>A;NC_000019.10:g.38496455G>A;NC_000019.10:g.38499234T>C;NC_000019.10:g.38499642C>A;NC_000019.10:g.38499667G>A;NC_000019.10:g.38499667G>T;NC_000019.10:g.38499680T>A;NC_000019.10:g.38499683G>A;NC_000019.10:g.38499696C>G;NC_000019.10:g.38499719A>G;NC_000019.10:g.38499730G>A;NC_000019.10:g.38499985A>T;NC_000019.10:g.38500000G>A;NC_000019.10:g.38502669C>G;NC_000019.10:g.38504298G>A;NC_000019.10:g.38506508C>G;NC_000019.10:g.38506865C>T;NC_000019.10:g.38507821C>T;NC_000019.10:g.38512279G>A;NC_000019.10:g.38515052C>T;NC_000019.10:g.38516181T>C;NC_000019.10:g.38516208G>C;NC_000019.10:g.38517470T>C;NC_000019.10:g.38517523T>A;NC_000019.10:g.38519424C>A;NC_000019.10:g.38519432A>T;NC_000019.10:g.38519447A>G;NC_000019.10:g.38525432C>T;NC_000019.10:g.38527710G>C;NC_000019.10:g.38528372G>T;NC_000019.10:g.38529002G>C;NC_000019.10:g.38529042C>T;NC_000019.10:g.38543380A>T;NC_000019.10:g.38543566G>A;NC_000019.10:g.38543810C>T;NC_000019.10:g.38548253A>T;NC_000019.10:g.38561140G>C;NC_000019.10:g.38561213C>T;NC_000019.10:g.38561362G>A;NC_000019.10:g.38561363G>T;NC_000019.10:g.38565023T>G;NC_000019.10:g.38570649C>G;NC_000019.10:g.38577931A>C;NC_000019.10:g.38578205G>T;NC_000019.10:g.38580039_38580040delinsAA;NC_000019.10:g.38580041C>A;NC_000019.10:g.38580126C>G;NC_000019.10:g.38580397G>C;NC_000019.10:g.38580416C>T;NC_000019.10:g.38585078A>G;NC_000019.10:g.38585099G>A;NC_000019.10:g.38586190A>G;NC_000019.10:g.38587362G>C;NC_000019.10:g.38587363G>C;Reference;rs111272095.C>T;rs111364296.G>A;rs111565359.G>A;rs111657878.T>C;rs111888148.G>A;rs112151058.G>A;rs112196644.A>G;rs112563513.G>A;rs112596687.T>A;rs112772310.G>A;rs113210953.A>G;rs113332073.G>A;rs113332073.G>T;rs117886618.C>G;rs118192113.C>A;rs118192116.C>G;rs118192116.C>T;rs118192121.A>C;rs118192122.G>A;rs118192123.T>C;rs118192124.C>T;rs118192126.A>G;rs118192130.G>A;rs118192135.G>A;rs118192140.C>T;rs118192151.G>A;rs118192151.G>C;rs118192158.G>A;rs118192159.C>G;rs118192160.G>A;rs118192160.G>T;rs118192161.C>T;rs118192162.A>C;rs118192162.A>G;rs118192163.G>A;rs118192163.G>C;rs118192163.G>T;rs118192167.A>G;rs118192168.G>A;rs118192170.T>C;rs118192172.C>T;rs118192175.C>T;rs118192176.G>A;rs118192177.C>G;rs118192177.C>T;rs118192178.C>G;rs118192178.C>T;rs118192181.C>T;rs118204421.C>T;rs118204422.T>C;rs118204423.G>A;rs118204423.G>C;rs121918592.G>A;rs121918592.G>C;rs121918593.G>A;rs121918594.G>A;rs121918594.G>T;rs121918595.C>T;rs121918596._38499648delGAG;rs137932199.G>A;rs137933390.A>G;rs138874610.G>A;rs139161723.G>A;rs139647387.A>G;rs140152019.G>A;rs140616359.G>A;rs141646642.C>G;rs141942845.G>A;rs142474192.G>A;rs142474192.G>T;rs143398211.G>A;rs143520367.C>T;rs143987857.G>A;rs143988412.A>G;rs143988412.A>T;rs144336148.G>A;rs144685735.C>T;rs145573319.A>G;rs145801146.C>T;rs146306934.G>A;rs146429605.A>G;rs146504767.G>A;rs146876145.C>T;rs147136339.A>G;rs147213895.A>G;rs147303895.G>A;rs147707463.C>T;rs147723844.A>G;rs148399313.G>A;rs148623597.G>A;rs150396398.G>C;rs151029675.C>T;rs151119428.G>A;rs1801086.G>A;rs1801086.G>C;rs1801086.G>T;rs180714609.G>A;rs186983396.C>G;rs186983396.C>T;rs192863857.C>T;rs193922744.T>G;rs193922745._38440752delTGA;rs193922746.A>G;rs193922747.T>C;rs193922748.C>T;rs193922749.C>A;rs193922750.C>A;rs193922751.G>A;rs193922752.A>G;rs193922753.G>A;rs193922753.G>T;rs193922754.G>A;rs193922755.G>A;rs193922756.A>G;rs193922757.C>T;rs193922759.G>A;rs193922760.A>T;rs193922761.G>T;rs193922762.C>A;rs193922762.C>T;rs193922764.C>A;rs193922764.C>G;rs193922764.C>T;rs193922766.G>A;rs193922766.G>T;rs193922767.G>A;rs193922767.G>T;rs193922768.C>A;rs193922768.C>T;rs193922769.T>C;rs193922769.T>G;rs193922770.C>T;rs193922772.G>A;rs193922772.G>T;rs193922775.C>T;rs193922776.C>T;rs193922777.C>T;rs193922781.C>T;rs193922782.T>G;rs193922783.T>A;rs193922788.G>C;rs193922789.G>A;rs193922790.A>T;rs193922791.C>T;rs193922792.G>T;rs193922793.T>A;rs193922795.G>A;rs193922797.G>A;rs193922798.G>C;rs193922799.G>A;rs193922801.A>G;rs193922802.G>A;rs193922803.C>T;rs193922804.A>G;rs193922805.T>G;rs193922806.C>G;rs193922807.G>C;rs193922809.G>A;rs193922810.G>A;rs193922810.G>T;rs193922812.C>T;rs193922813.G>C;rs193922815.G>A;rs193922815.G>C;rs193922816.C>T;rs193922817.C>T;rs193922818.G>A;rs193922819.T>C;rs193922822.C>G;rs193922822.C>T;rs193922824.C>T;rs193922826.C>G;rs193922826.C>T;rs193922827.G>C;rs193922828.G>A;rs193922829.G>A;rs193922830.C>T;rs193922831.T>A;rs193922832.G>A;rs193922833.G>A;rs193922834.G>A;rs193922838.G>A;rs193922838.G>T;rs193922839.G>A;rs193922840.T>G;rs193922842.C>G;rs193922842.C>T;rs193922843.G>T;rs193922844.C>A;rs193922848.A>T;rs193922849.C>A;rs193922850.T>C;rs193922852.G>C;rs193922852.G>T;rs193922853.A>T;rs193922855.C>T;rs193922860.G>A;rs193922862._38572267delinsCT;rs193922863.C>T;rs193922864.T>C;rs193922865.T>G;rs193922866.G>A;rs193922867.C>T;rs193922868.G>A;rs193922873.G>A;rs193922873.G>T;rs193922874.T>C;rs193922876.C>T;rs193922877.delA;rs193922878.C>G;rs193922879.G>A;rs193922880.C>G;rs193922883.T>C;rs193922888.G>A;rs193922895.C>A;rs193922896.G>T;rs193922898.T>A;rs199738299.A>G;rs199870223.C>T;rs200766617.G>A;rs201321695.A>G;rs2145447772.G>A;rs2145447772.G>C;rs28933396.G>A;rs28933396.G>T;rs28933397.C>T;rs34390345.A>G;rs34694816.A>G;rs34934920.C>T;rs35180584.C>G;rs35364374.G>T;rs370634440.G>A;rs370634440.G>T;rs372958050.T>C;rs373406011.C>T;rs375626634.T>C;rs375915752.C>T;rs376149732.C>T;rs4802584.C>G;rs537994744.G>A;rs549201486.C>T;rs551223467.C>T;rs553055844.G>A;rs55876273.G>C;rs587784372.C>T;rs63749869.G>A;rs727504129.C>T;rs746818096.T>A;rs747177274.G>C;rs748575133.T>A;rs749040743.G>A;rs751180702.G>A;rs752652072.C>T;rs754476250.C>T;rs754785770.A>G;rs755088027.G>A;rs756850145.A>G;rs757753317.G>A;rs759500310.T>C;rs761616815.G>A;rs762401851.G>A;rs763112609.C>T;rs763352221.C>T;rs767553612.A>G;rs768360593.G>A;rs768535909.T>C;rs769482889.C>T;rs770593660.G>C;rs771058055.G>A;rs771741606.C>T;rs773040531.A>G;rs778241277.G>A;rs781104539.A>G;rs781126470.C>T;rs901087791.G>A;rs914804033.G>A;rs914804033.G>C;rs917523269.C>T;rs936513262.G>A;rs959170123.G>A;rs976108591.A>G;rs995399438.T>C

SLCO1B1

*1;*10;*11;*12;*13;*14;*15;*16;*19;*2;*20;*23;*24;*25;*26;*27;*28;*29;*3;*30;*31;*32;*33;*34;*36;*37;*38;*39;*4;*40;*41;*42;*43;*44;*45;*46;*47;*5;*6;*7;*8;*9

TNF

Reference;rs1799724.C>T;rs1799964.T>C;rs1800610.G>A;rs1800629.G>A;rs1800630.C>A;rs1800750.G>A;rs2736195.A>G;rs3093548.C>T;rs3093662.A>G;rs3093726.T>C;rs361525.G>A;rs4248158.C>T;rs4248159.C>A;rs4248160.G>A;rs4248163.C>A;rs4248163.C>G;rs4248163.C>T;rs4647198.C>T;rs4987086.G>A;rs55634887.G>A;rs55994001.C>A;rs55994001.C>T

TPMT

*1;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*2;*20;*21;*22;*23;*24;*25;*26;*27;*28;*29;*30;*31;*32;*33;*34;*35;*36;*37;*38;*39;*3A;*3B;*3C;*4;*40;*41;*42;*43;*44;*5;*6;*7;*8;*9

UGT1A1

*1;*27;*28;*36;*37;*6;*80;*80+*28;*80+*37

UGT1A4

*1a;*1b;*1c;*2;*3a;*3b;*4;*7

UGT2B15

*1;*2;*3;*4;*5;*6;*7

VKORC1

Reference;rs9923231 variant (T)

YEATS4

Reference;rs7297610.C>T

PGx Star Allele Coverage for Specific PGx Products

PGx star alleles can only be called when the related variants in the star allele definition are present in a PGx product. An auxiliary file ([Product]_GS_import.txt) is provided for each product with the PGx variants and associated star alleles. The product files pages that contain the auxiliary files are listed in the table below.

Instructions on how to use the auxiliary file can be found here: How to use the auxiliary file.

ProductGS Import File NameProduct Files Link

GDA-ePGx

GDAePGx_G2_GS_import.txt

GSAv4-ePGx

GSAePGx_E2_GS_import.txt

GCRA-ePGx

GCRAePGx_E2_GS_import.txt

Known Limitations of GDA-ePGx, GSAv4-ePGx, and GCRA-ePGx.

  • APOE: GSAv4-ePGx and GCRA-ePGx do not support calling E2 and E4 due to the lack of functional probes for rs7412 and rs429358.

  • CYP2A6: GDA-ePGx does not support *5 due to lack of coverage for *5 core variants.

  • CYP4F2: for all three products

    • *1 and *2 are not distinguishable due to the lack of probes for rs30193105. Samples with *2 will be called as *1.

    • *3 and *4 are not distinguishable due to the lack of probes for rs30193105, while *3 core variant rs2108622 is covered by all three products. Samples with *4 will be called as *3.

  • UGT1A1: *28 (rs8175347 [TA]8) and *37 (rs8175347 [TA]9) are not covered in all three PGx products due to the lack of functional probes.

  • UGT2B15: GSAv4-ePGx and GCRA-ePGx do not support *4 or *5 due to the lack of probes for rs4148269 and rs1902023.

PGx Variants Masked in DRAGEN Array

During DRAGEN Array star allele calling, poorly performing PGx variants are masked and treated as "No Calls". Star alleles that are solely defined by the masked variants will NOT be called by DRAGEN Array. The tables below provide the variants that are masked per product with each row represents a single variant. The Variant_ID matches the ID field of the corresponding SNV VCF entry of the PGx product.

GDA-ePGx

ManifestGene_SymbolVariant_ID

GDA_PGx-8v1-0_20042614_G

CYP1A2

ilmnseq_rs35694136_ilmnfwd;ilmnseq_rs35694136_ilmnfwd_ilmndup1;ilmnseq_rs35694136_ilmnfwd_ilmndup2;ilmnseq_rs35694136_ilmnfwd_ilmndup3;ilmnseq_rs35694136_ilmnfwd_ilmndup4;ilmnseq_rs35694136_ilmnfwd_ilmndup5;ilmnseq_rs35694136_ilmnfwd_ilmndup6;ilmnseq_rs35694136_ilmnfwd_ilmndup7

GDA_PGx-8v1-0_20042614_G

CYP2D6

ilmnseq_rs72549352_ilmnrev_F2BTindel_deg3a3b3_IlmnRep;ilmnseq_rs72549352_ilmnrev_F2BTindel_deg3a3b3_ilmndup1;ilmnseq_rs72549352_ilmnrev_F2BTindel_deg3a3b3_ilmndup3;ilmnseq_rs72549352_ilmnrev_F2BTindel_ilmndup1;ilmnseq_rs72549352_ilmnrev_F2BTindel_ilmndup3

GDA_PGx-8v1-0_20042614_G

CYP4F2

ilmnseq_rs4020346_ilmnfwd

GDA_PGx-8v1-0_20042614_G

UGT1A1

ilmnseq_rs8175347_ilmnfwd_F2BTindel;ilmnseq_rs8175347_ilmnfwd_F2BTindel_ilmndup1;ilmnseq_rs8175347_ilmnrev;ilmnseq_rs8175347_ilmnrev_ilmndup1;ilmnseq_rs8175347_ilmnrev_ilmndup2;ilmnseq_rs8175347_ilmnrev_ilmndup3

GSAv4-ePGx

ManifestGene_SymbolVariant_ID

GSA-PGx-48v4-0_20079540_E

CYP1A2

IlmnSeq_rs35694136_IlmnFWD;ilmnseq_rs35694136_ilmnfwd_ilmndup2;ilmnseq_rs35694136_ilmnfwd_ilmndup3;ilmnseq_rs35694136_ilmnfwd_ilmndup4;ilmnseq_rs35694136_ilmnfwd_ilmndup5;ilmnseq_rs35694136_ilmnfwd_ilmndup6;ilmnseq_rs35694136_ilmnfwd_ilmndup7

GSA-PGx-48v4-0_20079540_E

CYP2C19

IlmnSeq_rs367543002,ilmnseq_rs367543002_ilmnfwd,ilmnseq_rs367543002_ilmnfwd_ilmndup1,ilmnseq_rs367543002_ilmnrev_deg3a1b0_ilmndup1,rs367543002

GSA-PGx-48v4-0_20079540_E

CYP2C19

ilmnseq_rs17882687_ilmnfwd_ilmndup2,ilmnseq_rs17882687_ilmnrev,ilmnseq_rs17882687_ilmnrev_ilmndup1,ilmnseq_rs17882687_ilmnrev_ilmndup2

GSA-PGx-48v4-0_20079540_E

CYP2C19

IlmnSeq_rs113934938,ilmnseq_rs113934938_ilmnfwd,ilmnseq_rs113934938_ilmnfwd_ilmndup1,ilmnseq_rs113934938_ilmnfwd_ilmndup2,rs113934938

GSA-PGx-48v4-0_20079540_E

CYP2C9

10:96701973,ilmnseq_rs774607211_ilmnfwd_ilmndup1,ilmnseq_rs774607211_ilmnfwd_ilmndup2

GSA-PGx-48v4-0_20079540_E

CYP2D6

ilmnseq_rs1135836_ilmnrev_deg3a3b0

GSA-PGx-48v4-0_20079540_E

CYP2D6

PGX_IlmnSeq_rs769157652_BEST,ilmnseq_rs769157652_ilmnrev_F2BT,ilmnseq_rs769157652_ilmnrev_deg3a1b0

GSA-PGx-48v4-0_20079540_E

CYP4F2

ilmnseq_rs4020346_ilmnfwd

GSA-PGx-48v4-0_20079540_E

OPRM1

ilmnseq_rs9384179.1_F2BT

GSA-PGx-48v4-0_20079540_E

UGT1A1

ilmnseq_rs8175347.2_ilmnrev_F2BTindel_cei_ilmndup31

GCRA-ePGx

ManifestGene_SymbolVariant_ID

GCRA-PGx-24v1-0_20084467_C

COMT

ilmnseq_rs7287550_ilmnfwd_F2BT

GCRA-PGx-24v1-0_20084467_C

CYP1A2

IlmnSeq_rs35694136;IlmnSeq_rs35694136_IlmnFWD;ilmnseq_rs35694136_ilmnfwd_ilmndup2;ilmnseq_rs35694136_ilmnfwd_ilmndup5;ilmnseq_rs35694136_ilmnfwd_ilmndup6;rs35694136

GCRA-PGx-24v1-0_20084467_C

CYP2C19

ilmnseq_rs367543002_ilmnfwd

GCRA-PGx-24v1-0_20084467_C

CYP2C19

ilmnseq_rs17882687_ilmnfwd_ilmndup2,ilmnseq_rs17882687_ilmnrev_ilmndup1

GCRA-PGx-24v1-0_20084467_C

CYP2C19

IlmnSeq_rs113934938,ilmnseq_rs113934938_ilmnfwd,ilmnseq_rs113934938_ilmnfwd_ilmndup1,ilmnseq_rs113934938_ilmnfwd_ilmndup2,rs113934938

GCRA-PGx-24v1-0_20084467_C

CYP2C9

ilmnseq_rs774607211_ilmnrev,ilmnseq_rs774607211_ilmnrev_ilmndup2

GCRA-PGx-24v1-0_20084467_C

CYP2D6

ilmnseq_rs2004511_dup1

GCRA-PGx-24v1-0_20084467_C

CYP2D6

PGX_IlmnSeq_rs769157652_BEST,ilmnseq_rs769157652_ilmnrev,ilmnseq_rs769157652_ilmnrev_deg3a1b0,ilmnseq_rs769157652_ilmnrev_deg3a1b0_ilmndup1,ilmnseq_rs769157652_ilmnrev_ilmndup1,seq-rs61737947

GCRA-PGx-24v1-0_20084467_C

CYP4F2

ilmnseq_rs4020346_ilmnfwd

GCRA-PGx-24v1-0_20084467_C

OPRM1

ilmnseq_rs9384179.1_F2BT

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