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
Gene | PGx 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.
Product | GS Import File Name | Product 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
Manifest | Gene_Symbol | Variant_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
Manifest | Gene_Symbol | Variant_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
Manifest | Gene_Symbol | Variant_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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