NM_000130.5(F5):c.1601= (p.Arg534=)
|
rs6025
|
0.98238
|
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)
|
rs1799983
|
0.76319
|
NM_001382817.3(AGT):c.-30-3273G>A
|
rs5051
|
0.58201
|
NM_199161.5(SAA1):c.209C>T (p.Ala70Val)
|
rs1136743
|
0.54337
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)
|
rs1804495
|
0.11690
|
NM_001159387.2(B4GALNT2):c.954+5G>A
|
rs72835417
|
0.07909
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_016362.5(GHRL):c.214C>A (p.Leu72Met)
|
rs696217
|
0.07013
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06710
|
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)
|
rs3827760
|
0.05968
|
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)
|
rs1800435
|
0.05916
|
NM_000482.4(APOA4):c.1140G>T (p.Gln380His)
|
rs5110
|
0.05327
|
NM_000325.6(PITX2):c.*454C>T
|
rs6533526
|
0.05143
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)
|
rs5036
|
0.05002
|
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)
|
rs73598374
|
0.04175
|
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
|
rs79691946
|
0.03108
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala)
|
rs3212989
|
0.02148
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)
|
rs179363896
|
0.00715
|
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
|
rs121908970
|
0.00599
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
NM_022336.4(EDAR):c.319A>G (p.Met107Val)
|
rs61761321
|
0.00302
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)
|
rs2285644
|
0.00284
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_000350.3(ABCA4):c.6730-19G>A
|
rs375179475
|
0.00052
|
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)
|
rs117385606
|
0.00039
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
|
|
|
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup)
|
rs71245621
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
|
|
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)
|
rs71785313
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
|
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
Single allele
|
rs1556502214
|
|
UGT1A1*28
|
rs3064744
|
|
UGT1A1*37
|
rs3064744
|
|