Disease: Crigler Najjar syndrome, type 2
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34993780
UGT1A10 ; MROH2A ; UGT1A7 ; UGT1A5 ; UGT1A6 ; UGT1A1 ; UGT1A9 ; UGT1A8 ; UGT1A3 ; UGT1A4
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04 7
rs34946978
UGT1A3 ; UGT1A4 ; UGT1A9 ; UGT1A5 ; UGT1A7 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03 6
rs281865418
UGT1A5 ; UGT1A6 ; UGT1A3 ; UGT1A9 ; UGT1A1 ; UGT1A7 ; UGT1A8 ; UGT1A10 ; UGT1A4
0.882 0.080 2 233761127 stop gained C/A;G snv 3
rs111033539
UGT1A8 ; UGT1A5 ; UGT1A10 ; UGT1A7 ; UGT1A6 ; UGT1A9 ; UGT1A3 ; UGT1A1 ; UGT1A4
0.925 0.080 2 233767160 stop gained C/T snv 2
rs1283652721
UGT1A4 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A9 ; UGT1A7 ; UGT1A5 ; UGT1A1 ; UGT1A6
0.925 0.080 2 233768265 missense variant G/T snv 7.0E-06 2
rs1349037761
UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A4 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A3 ; UGT1A1
0.925 0.080 2 233768262 missense variant A/G snv 2
rs139607673
UGT1A3 ; UGT1A8 ; UGT1A9 ; UGT1A10 ; UGT1A1 ; UGT1A5 ; UGT1A6 ; UGT1A4 ; UGT1A7
0.925 0.080 2 233767858 missense variant C/T snv 8.0E-06; 4.0E-06 1.4E-05 2
rs1476500325
UGT1A3 ; UGT1A5 ; UGT1A4 ; MROH2A ; UGT1A10 ; UGT1A9 ; UGT1A6 ; UGT1A8 ; UGT1A7 ; UGT1A1
0.925 0.080 2 233772338 missense variant T/C snv 7.0E-06 2
rs35003977
UGT1A10 ; UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A8 ; UGT1A4 ; UGT1A5 ; UGT1A7 ; UGT1A3
0.925 0.080 2 233760961 missense variant T/G snv 5.9E-04 3.6E-04 2
rs62625011
UGT1A8 ; UGT1A4 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A7 ; UGT1A5 ; UGT1A3 ; UGT1A9
0.925 0.080 2 233767092 missense variant G/A snv 1.2E-05 2
rs72551343
UGT1A10 ; UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A8 ; UGT1A5 ; UGT1A3 ; UGT1A1
0.925 0.080 2 233760912 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 3.2E-05 2