Disease: Congenital atresia of extrahepatic bile duct
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs187238
IL18
0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs1946518
IL18
0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs2292832
MIR149 ; GPC1 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs2569190
CD14 ; TMCO6
0.620 0.560 5 140633331 intron variant A/G snv 0.57 39
rs1799969
ICAM1
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 38
rs5844572
MIF ; MIF-AS1
0.752 0.360 22 23893562 intron variant -/ATTC delins 11
rs549908
IL18
0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 10
rs10509906
ADD3-AS1 ; ADD3
0.925 0.080 10 109997916 intron variant G/A;C snv 2
rs17095355
ADD3-AS1
0.925 0.080 10 109975992 intron variant C/T snv 0.22 2
rs2501577
ADD3
0.925 0.080 10 110086929 intron variant A/G snv 0.37 2
rs3126184 0.925 0.080 14 49905817 upstream gene variant T/C snv 0.87 2
rs3828336
GPC1 ; LOC100130449
0.925 0.080 2 240451099 non coding transcript exon variant C/G;T snv 0.26 2
rs7251432
HAMP
0.925 0.080 19 35284538 non coding transcript exon variant A/G;T snv 0.43 2
rs835576
NOTCH2
0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 2
rs916145
USF2
0.925 0.080 19 35276981 non coding transcript exon variant C/G;T snv 2