Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs118204456
GRK6 ; F12 ; SLC34A1
0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 7
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
rs587784535
UGT1A1 ; UGT1A7 ; UGT1A9 ; UGT1A3 ; UGT1A6 ; UGT1A8 ; UGT1A10 ; UGT1A4 ; UGT1A5
2 233767937 splice donor variant G/T snv 1
rs797046090
UGT1A4 ; UGT1A10 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A9 ; UGT1A3 ; UGT1A7
2 233760524 frameshift variant -/GTAC delins 1
rs797046091
UGT1A9 ; UGT1A6 ; UGT1A3 ; UGT1A5 ; UGT1A10 ; UGT1A7 ; UGT1A8 ; UGT1A4 ; UGT1A1
2 233761003 frameshift variant AG/- delins 1