Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042597
UGT1A8
2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 3
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs10474485
CRHBP
1.000 0.040 5 76975028 intron variant C/A snv 0.26 2
rs1050274678
SLC19A1
0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 3
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057910
CYP2C9
0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1131692245
NPHS1
0.925 0.160 19 35844109 missense variant C/T snv 7
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv 3
rs12462111
NTN5 ; SEC1P
19 48668049 intron variant C/T snv 0.33 2
rs12513549
MSH3
5 80781309 intron variant G/T snv 0.13 1
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1360182594
MTHFR
1 11790755 synonymous variant G/A snv 4.0E-06 1
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs1458320839
ABCB6
2 219218640 missense variant C/A;T snv 1
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26