Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
6 0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03 0.700 0
dbSNP: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
7 0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04 0.700 0
dbSNP: rs587784535
rs587784535
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 2 233767937 splice donor variant G/T snv 0.700 0
dbSNP: rs797046090
rs797046090
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 2 233760524 frameshift variant -/GTAC delins 0.700 0
dbSNP: rs797046091
rs797046091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 2 233761003 frameshift variant AG/- delins 0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0