UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)
|
rs150473213
|
0.00034
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_005422.4(TECTA):c.248C>T (p.Thr83Met)
|
rs145898158
|
0.00009
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)
|
rs199669988
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)
|
rs63750428
|
0.00004
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
|
rs373775562
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)
|
rs558628181
|
0.00001
|
NM_000166.6(GJB1):c.*15C>T
|
rs1057520778
|
|
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val)
|
rs2101035728
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)
|
rs45482795
|
|
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
|
|
|
NM_014009.4(FOXP3):c.748_750del (p.Lys250del)
|
rs1557116163
|
|
NM_016239.4(MYO15A):c.5964+3G>A
|
rs530975087
|
|
NM_022124.6(CDH23):c.2359_2382del (p.Leu787_Asp794del)
|
rs886038668
|
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
|
Single allele
|
|
|