CACNA1S

Definition Position201060815201091993
rs1800559rs772226819
VCF Position201060815201091993
VCF REF,ALTsC,TG,A
VCF CallC|CG|G
ReferenceCG
CG

CFTR

Definition Position117509035117509069117509089117530953117530955117530974117530975117534318117534363117534368117535285117540270117540285117548795117587799117587800117587801117587805117587806117590409117594930117602868117603708117606695117611555117611595117611620117611640117611646117611649117611650117611663117614699117639961117642451117642472117642483117642528117664770
rs397508256rs368505753rs115545701rs113993958rs397508537rs77834169rs78655421rs80282562rs397508759rs397508761rs121908752rs77932196rs121908753rs74551128rs121908757rs121908755rs121909005rs121909013rs75527207rs397508288rs397508387rs80224560rs397508442rs141033578rs76151804rs150212784rs397508513rs121909020rs200321110rs202179988rs78769542rs186045772rs75541969rs75039782rs267606723rs74503330rs121909041rs11971167rs193922525
VCF Position117509035117509069117509089117530953117530955117530974117530975117534318117534363117534368117535285117540270117540285117548795117587799117587800117587801117587805117587806117590409117594930117602868117603708117606695117611555117611595117611620117611640117611646117611649117611650117611663117614699117639961117642451117642472117642483117642528117664770
VCF REF,ALTsG,AC,TC,TG,CC,AC,TG,AG,AG,AA,GT,GG,AG,AC,AA,CG,AT,GG,AG,AA,GG,TG,AC,TC,TA,GT,GA,CG,AG,AC,TG,AT,AG,CC,TG,AG,AT,CG,AG,A
VCF CallG|GC|CC|CG|GC|CC|CG|GG|GG|GA|AT|TG|GG|GC|CA|AG|GT|TG|GG|GA|AG|GG|GC|CC|CA|AT|TA|AG|GG|GC|CG|GT|TG|GC|CG|GG|GT|TG|GG|G
ivacaftor non-responsive CFTR sequenceGCCGCCGGGATGGCAGTGGAGGCCATAGGCGTGCGGTGG
GCCGCCGGGATGGCAGTGGAGGCCATAGGCGTGCGGTGG

CYP2B6

Definition Position4099122440991367409913694099138140991388409913904099139140991441410040154100412541004158410043034100437741004381410044064100691941006923410069364100696841007013410093504100935841010006410100884101010841012316410123394101246541012693410127404101280341016726410167784101680541016810
rs34223104rs34883432rs8192709rs33973337rs33980385rs33926104rs34284776rs35303484rs281864907rs36060847rs186335453rs139801276rs12721655rs35773040rs145884402rs3826711rs36056539rs3745274rs373489637rs36079186rs45482602rs2279343rs139029625rs34698757rs193922917rs28399499rs34826503rs34097093rs35979566rs193922918rs35010098rs3211369rs564083989rs3211371
VCF Position4099122440991367409913694099138140991388409913904099139140991441410040154100412541004158410043034100437741004381410044064100691941006923410069364100696841007013410093504100935841010006410100884101010841012316410123394101246541012693410127404101280341016726410167784101680541016810
VCF REF,ALTsT,CA,TC,TA,TA,GC,AG,CA,GT,AG,AG,TT,CA,GG,AG,TC,GC,TG,TT,GT,CC,AA,GG,CC,GC,AT,CC,TC,TT,AG,AC,AA,GG,AA,TC,A,T
VCF CallT|TA|AC|CA|AA|AC|CG|GA|AT|TG|GG|GT|TA|AG|GG|GC|CC|CG|GT|TT|TC|CA|AG|GC|CC|CT|TC|CC|CT|TG|GC|CA|AG|GA|AC|C
*1TACAACGATGGTAGGCCGTTCAGCCTCCTGCAGAC
TACAACGATGGTAGGCCGTTCAGCCTCCTGCAGAC

CYP2C19

Definition Position94761900947627069476271294762715947627559476276094762788947628569477510694775121947751609477518594775367947754169477542394775453947754899477550794780574947805799478065394781858947818599478194494781999948428619484286694842879948429959484999594852738948527659485278594852914
rs12248560rs28399504rs367543002rs367543003rs55752064rs17882687rs1564656981rs1564657013rs145328984rs1564660997rs118203756rs1288601658rs12769205rs41291556rs17885179rs72552267rs17884712rs58973490rs140278421rs370803989rs4986893rs6413438rs4244285rs375781227rs72558186rs138142612rs3758581rs118203757rs113934938rs17879685rs56337013rs192154563rs118203759rs55640102
VCF Position94761900947627069476271294762715947627559476276094762788947628569477510694775121947751609477518594775367947754169477542394775453947754899477550794780574947805799478065394781858947818599478194494781999948428619484286694842879948429959484999594852738948527659485278594852914
VCF REF,ALTsC,TA,GC,TT,CT,CA,CA,TA,GC,TC,TG,CA,GA,GT,CA,CG,AG,AG,AG,CG,AG,AC,TG,AG,AT,AG,AA,GG,AG,AC,TC,TC,TC,GA,C
VCF CallC|CA|AC|CT|TT|TA|AA|AA|AC|CC|CG|GA|AA|AT|TA|AG|GG|GG|GG|GG|GG|GC|CG|GG|GT|TG|GA|AG|GG|GC|CC|CC|CC|CA|A
*38CACTTAAACCGAATAGGGGGGCGGTGAGGCCCCA
CACTTAAACCGAATAGGGGGGCGGTGAGGCCCCA

CYP2C9

Definition Position949386839493873794938771949388039493882894941897949419159494195894941976949419829494201894942205949422169494223094942231949422339494223494942249949422549494225594942290949422919494230594942309949477829494778594947869949479079494791794947938949491299494914494949217949492809494928194972119949721239497213494972179949721809497223394981199949812019498122494981225949812309498125094981281949812969498129794981301949813029498130594981365949813719498604294986073949888529498885594988880949889179498892594988955949889849498902094989023
rs114071557rs67807361rs142240658rs2031308986rs564813580rs371055887rs72558187rs762239445rs1304490498rs774607211rs767576260rs12414460rs375805362rs72558189rs200965026rs199523631rs200183364rs1799853rs141489852rs754487195rs7900194rs72558190rs774550549rs1326630788rs2031531005rs2256871rs9332130rs9332131rs182132442rs72558192rs988617574rs1237225311rs57505750rs28371685rs367826293rs1274535931rs750820937rs749060448rs1057910rs56165452rs28371686rs1250577724rs578144976rs542577750rs764211126rs72558193rs776908257rs769942899rs202201137rs767284820rs781583846rs9332239rs868182778
VCF Position949386839493873794938771949388039493882894941897949419159494195894941976949419829494201894942205949422169494223094942231949422339494223494942249949422549494225594942290949422919494230594942309949477829494778594947869949479079494791794947938949491299494914494949217949492809494928194972119949721239497213494972179949721809497223394981199949812019498122494981225949812309498125094981281949812969498129794981301949813029498130594981365949813719498604294986073949888529498885594988880949889179498892594988955949889849498902094989023
VCF REF,ALTsA,GC,AC,TA,GA,GG,CG,AT,CG,CG,TT,CCAATGGAAAGA,CA,GC,TG,AC,TG,A,TC,G,TC,TG,AC,TG,AG,AG,A,TC,AC,TA,GA,CT,CA,TA,GC,TA,GA,GGA,GC,AC,GA,GA,GC,GC,TG,TT,CC,TG,AC,AC,AG,AA,CT,CC,GC,AC,GC,TG,AA,GA,CC,TA,TG,TG,CA,GT,CG,AC,TG,T
VCF CallA|AC|CC|CA|AA|AG|GG|GT|TG|GG|GT|TCAATGGAAAGA|CAATGGAAAGAA|AC|CG|GC|CG|GC|CC|CG|GC|CG|GG|GG|GC|CC|CA|AA|AT|TA|AA|AC|CA|AA|AGA|GAC|CC|CA|AA|AC|CC|CG|GT|TC|CG|GC|CC|CG|GA|AT|TC|CC|CC|CC|CG|GA|AA|AC|CA|AG|GG|GA|AT|TG|GC|CG|G
*1ACCAAGGTGGTCAATGGAAAGAACGCGCCGCGGGCCAATAACAAGACCAACCGTCGCCGATCCCCGAACAGGATGCG
ACCAAGGTGGTCAATGGAAAGAACGCGCCGCGGGCCAATAACAAGACCAACCGTCGCCGATCCCCGAACAGGATGCG

CYP3A5

Definition Position9965261399652770996605169966521299665237996669509967291699676198
rs28365083rs41303343rs28383479rs10264272rs56411402rs55965422rs776746rs55817950
VCF Position9965261399652770996605169966521299665237996669509967291699676198
VCF REF,ALTsG,TT,TAC,TC,TT,CA,GT,CG,A
VCF CallG|GT|TC|CC|CT|TA|AT|TG|G
*1GTCCTATG
GTCCTATG

CYP4F2

Definition Position1587962115897578
rs2108622rs3093105
VCF Position1587962115897578
VCF REF,ALTsC,TA,C
VCF CallC|CA|A
*1CA
CA

DPYD

Definition Position9707898797078993970790059707907197079076970790779707912197079133970791399708236597082391970985989709859997098616970986329719310997193209972349589723499197305279973053639730536497305372973061959737359897373629973824619745005897450059974500659745006897450168974501879745018997450190975157849751578797515839975158519751586597515889975159239754956597549600975496099754968197549713975497269754973597573785975738059757382197573839975738639757388197573918975739199757394397579893975932389759328997593322975933439759337997595083975950889759514997679170976917769769939997699430976994749769950697699533976995359772154297721650977404009774041097883329978833529788335397883368
rs114096998rs148799944rs140114515rs1801268rs139459586rs202144771rs72547601rs72547602rs145529148rs141044036rs67376798rs1801267rs147545709rs55674432rs201035051rs60139309rs200687447rs199634007rs56005131rs112766203rs60511679rs1801160rs146529561rs145548112rs137999090rs138545885rs55971861rs3918290rs3918289rs72549303rs17376848rs147601618rs145773863rs138616379rs59086055rs201615754rs55886062rs1801159rs142619737rs1801158rs190951787rs148994843rs138391898rs111858276rs72549304rs199549923rs57918000rs144395748rs72975710rs186169810rs142512579rs764666241rs200064537rs56038477rs61622928rs143815742rs140602333rs78060119rs75017182rs72549305rs143154602rs183385770rs72549306rs201018345rs145112791rs150437414rs146356975rs45589337rs1801266rs72549307rs72549308rs115232898rs6670886rs139834141rs2297595rs200562975rs141462178rs150385342rs72549309rs1801265rs80081766rs72549310rs150036960
VCF Position9707898797078993970790059707907197079076970790779707912197079133970791399708236597082391970985989709859997098616970986329719310997193209972349589723499197305279973053639730536497305372973061959737359897373629973824619745005897450059974500659745006897450168974501879745018997450190975157849751578797515839975158519751586597515889975159239754956597549600975496099754968197549713975497269754973597573785975738059757382197573839975738639757388197573918975739199757394397579893975932389759328997593322975933439759337997595083975950889759514997679170976917769769939997699430976994749769950697699533976995359772154297721650977404009774041097883329978833529788335397883368
VCF REF,ALTsG,TC,GC,TC,AA,CG,AT,CT,AT,CT,CT,AC,TG,AC,AT,GT,CC,TG,TG,TG,AA,CC,TG,AC,TC,TC,AT,GC,TG,CTG,TA,GA,GC,TC,TG,AC,AA,CT,CC,TC,TG,CC,TC,TT,CG,AG,TG,AG,CG,AA,CC,TC,AA,TC,TC,TC,AG,AC,AG,CT,CG,AC,TC,AC,TG,AA,GT,CT,CG,AT,CT,GT,CC,TC,TT,CT,CT,CC,TGATGA,GA,GC,TG,AG,C
VCF CallG|GC|CC|CC|CA|AG|GT|TT|TT|TT|TT|TC|CG|GC|CT|TT|TC|CG|GG|GG|GA|AC|CG|GC|CC|CC|CT|TC|CG|GTG|TGA|AA|AC|CC|CG|GC|CA|AT|TC|CC|CG|GC|CC|CT|TG|GG|GG|GG|GG|GA|AC|CC|CA|AC|CC|CC|CG|GC|CG|GT|TG|GC|CC|CC|CG|GA|AT|TT|TG|GT|TT|TT|TC|CC|CT|TT|TT|TC|CGATGA|GATGAA|AC|CG|GG|G
ReferenceGCCCAGTTTTTCGCTTCGGGACGCCCTCGTGAACCGCATCCGCCTGGGGGACCACCCGCGTGCCCGATTGTTTCCTTTCGATGAACGG
GCCCAGTTTTTCGCTTCGGGACGCCCTCGTGAACCGCATCCGCCTGGGGGACCACCCGCGTGCCCGATTGTTTCCTTTCGATGAACGG

IFNL3

Definition Position39248147
rs12979860
VCF Position39248147
VCF REF,ALTsC,T
VCF CallC|C
rs12979860 reference (C)C
C

NUDT15

Definition Position4803774848037749480377824803779848037825480378344803784748037849480378854803790248040977480411034804111348045690480457194804572048045771
rs769369441rs746071566rs186364861rs777311140rs1202487323rs766023281rs1950545307rs149436418rs1457579126rs761191455rs1368252918rs768324690rs116855232rs147390019rs139551410
VCF Position4803774848037749480377824803779848037825480378344803784748037849480378854803790248040977480411034804111348045690480457194804572048045771
VCF REF,ALTsT,CG,CAGGAGTC,A,AGGAGTCGGAGTCG,AC,CGCGGC,TG,CA,GG,AC,GGA,GT,TGG,TC,GC,TG,AT,A
VCF CallT|TG|GAGGAGTC|AGGAGTCG|GC|CC|CG|GA|AG|GC|CGA|GAT|TG|GC|CC|CG|GT|T
*1TGAGGAGTCGCCGAGCGATGCCGT
TGAGGAGTCGCCGAGCGATGCCGT

RYR1

Definition Position3844080238440829384442113844421238446710384486733844871238451842384518503845535938455463384554713845547238455528384575453845754638494564384945653849457938496283384992233849964438499655384996703849973138499975384999933849999738500636385006423850064338500654385006553850089838500899385123213854383238580004385800943858011438580370385804033858044038584989
rs193922747rs193922748rs118192161rs193922753rs1801086rs193922762rs121918592rs193922764rs118192116rs118192162rs111888148rs193922768rs144336148rs193922770rs118192172rs193922772rs118192175rs118192163rs118192176rs118192177rs112563513rs121918596rs193922802rs193922803rs193922807rs193922809rs121918593rs28933396rs118192124rs193922816rs118192122rs28933397rs121918594rs118192178rs193922818rs193922832rs193922843rs118192167rs121918595rs193922876rs193922878rs118192168rs63749869rs118192170
VCF Position3844080238440829384442113844421238446710384486733844871238451842384518503845535938455463384554713845547238455528384575453845754638494564384945653849457938496283384992233849964438499655384996703849973138499975384999933849999738500636385006423850064338500654385006553850089838500899385123213854383238580004385800943858011438580370385804033858044038584989
VCF REF,ALTsT,CC,TC,TG,TG,A,CC,TG,A,CC,TC,GA,CG,AC,TG,AC,TC,TG,TC,TG,AG,AC,G,TG,ATGGA,TG,AC,TG,CG,AG,AG,AC,TC,TG,AC,TG,AC,G,TG,AG,AG,TA,GC,TC,TC,GG,AG,AT,C
VCF CallT|TC|CC|CG|GG|GC|CG|GC|CC|CA|AG|GC|CG|GC|CC|CG|GC|CG|GG|GC|CG|GTGGA|TGGAG|GC|CG|GG|GG|GG|GC|CC|CG|GC|CG|GC|CG|GG|GG|GA|AC|CC|CC|CG|GG|GT|T
ReferenceTCCGGCGCCAGCGCCGCGGCGTGGAGCGGGGCCGCGCGGGACCCGGT
TCCGGCGCCAGCGCCGCGGCGTGGAGCGGGGCCGCGCGGGACCCGGT

SLCO1B1

Definition Position21172734211727762117278221174595211768042117686821176871211768792117688321176898211786122117861521178957211969512119697521196976212005442120059521202553212025552120264921202664212059212120599921206031212223552123904221239077212391132123914521239158
rs139257324rs373327528rs56101265rs56061388rs2306283rs2306282rs11045819rs72559745rs77271279rs141467543rs4149056rs79135870rs11045852rs183501729rs11045853rs72559747rs55901008rs1228465562rs59113707rs56387224rs142965323rs72559748rs59502379rs74064213rs71581941rs34671512rs56199088rs55737008rs200995543rs140790673
VCF Position21172734211727762117278221174595211768042117686821176871211768792117688321176898211786122117861521178957211969512119697521196976212005442120059521202553212025552120264921202664212059212120599921206031212223552123904221239077212391132123914521239158
VCF REF,ALTsC,TG,AT,CT,CA,GA,GG,AC,AA,GG,TA,GT,CA,GA,GC,TG,AC,GT,CT,GC,GA,GG,AA,GG,CA,GC,TA,CA,GA,GC,TC,T
VCF CallC|CG|GT|TT|TA|AA|AG|GC|CA|AG|GA|AT|TA|AA|AC|CG|GC|CT|TT|TC|CA|AG|GA|AG|GA|AC|CA|AA|AA|AC|CC|C
*1CGTTAAGCAGATAACGCTTCAGAGACAAACC
CGTTAAGCAGATAACGCTTCAGAGACAAACC

TPMT

Definition Position18130687181306941813072518130729181307581813076218130772181307811813213618132147181321631813384518133847181338701813388418133887181338901813896918138970181389971813902718139689181397101814359718143606181436131814362218143643181437001814371818143724181437281814783818147845181478511814785618147910181490041814902218149032181490451814912618149127
rs1142345rs150900439rs72552736rs139392616rs398122996rs56161402rs377085266rs1800584rs72556347rs79901429rs75543815rs6921269rs772832951rs74423290rs201695576rs9333570rs144041067rs112339338rs1800460rs72552737rs72552738rs200220210rs151149760rs115106679rs753545734rs111901354rs1800462rs1256618794rs281874771rs777686348rs200591577rs72552740rs750424422rs759836180rs72552742rs267607275rs9333569
VCF Position18130687181306941813072518130729181307581813076218130772181307811813213618132147181321631813384518133847181338701813388418133887181338901813896918138970181389971813902718139689181397101814359718143606181436131814362218143643181437001814371818143724181437281814783818147845181478511814785618147910181490041814902218149032181490451814912618149127
VCF REF,ALTsT,C,GT,CA,CC,TA,TC,TA,GC,TA,GA,GC,TT,AC,AA,GG,CT,CC,TC,G,TG,AC,TC,GC,TG,AT,GT,GC,GC,TA,CC,TG,AC,GC,AG,AC,TG,CA,GA,GG,CC,TC,CTT,AA,GT,C
VCF CallT|TT|TA|AC|CA|AC|CA|AC|CA|AA|AC|CT|TC|CA|AG|GT|TC|CC|CG|GC|CC|CC|CG|GT|TT|TC|CC|CA|AC|CG|GC|CC|CG|GC|CG|GA|AA|AG|GC|CC|CT|TA|AT|T
*1TTACACACAACTCAGTCCGCCCGTTCCACGCCGCGAAGCCTAT
TTACACACAACTCAGTCCGCCCGTTCCACGCCGCGAAGCCTAT

UGT1A1

Definition Position233759924233760233233760498233760973
rs887829rs3064744rs4148323rs35350960
VCF Position233759924233760233233760498233760973
VCF REF,ALTsC,TCAT,C,CATAT,CATATATG,AC,A
VCF CallC|CCAT|CATG|GC|C
*1CCATGC
CCATGC

VKORC1

Definition Position31096368
rs9923231
VCF Position31096368
VCF REF,ALTsC,T
VCF CallC|C
rs9923231 reference (C)C
C