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
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.
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
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
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
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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