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: rs1554174425
rs1554174425
RHAG
6 0.925 0.160 6 49618113 missense variant A/C snv 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 0.020 1.000 2 2014 2015
dbSNP: rs146913714
rs146913714
SLC45A2
1 1.000 0.040 5 33984373 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016