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: rs121918057
rs121918057
UROD
4 0.882 0.160 1 45014803 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.810 1.000 19 1986 2011
dbSNP: rs121918063
rs121918063
UROD
1 1.000 0.160 1 45013928 missense variant T/G snv 4.0E-06 7.0E-06 0.800 1.000 10 1989 2001
dbSNP: rs121918064
rs121918064
UROD
1 1.000 0.160 1 45014017 missense variant C/G;T snv 0.800 1.000 10 1989 2001
dbSNP: rs121918065
rs121918065
UROD
1 1.000 0.160 1 45014976 missense variant C/A snv 7.0E-06 0.800 1.000 10 1989 2001
dbSNP: rs121918066
rs121918066
UROD
1 1.000 0.160 1 45015389 missense variant G/A snv 2.9E-04 2.8E-05 0.800 1.000 10 1989 2001
dbSNP: rs121918058
rs121918058
UROD
2 0.925 0.160 1 45013933 missense variant G/A snv 0.700 1.000 19 1986 2011
dbSNP: rs121918059
rs121918059
UROD
3 0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06 0.700 1.000 10 1986 2011
dbSNP: rs121918060
rs121918060
UROD ; HECTD3
2 0.925 0.160 1 45013187 missense variant C/T snv 0.700 1.000 10 1986 2011
dbSNP: rs121918061
rs121918061
UROD
3 0.882 0.160 1 45014996 missense variant A/G;T snv 8.0E-06 0.700 1.000 10 1986 2011
dbSNP: rs1483459837
rs1483459837
UROD
1 1.000 0.160 1 45014740 missense variant T/C snv 7.0E-06 0.700 1.000 10 1989 2001
dbSNP: rs36033115
rs36033115
UROD
1 1.000 0.160 1 45014560 missense variant T/A snv 5.8E-03 5.2E-03 0.700 1.000 10 1989 2001
dbSNP: rs376921379
rs376921379
UROD ; HECTD3
1 1.000 0.160 1 45013316 missense variant G/T snv 1.2E-05 3.5E-05 0.700 1.000 10 1989 2001
dbSNP: rs762617943
rs762617943
UROD
1 1.000 0.160 1 45013784 missense variant G/A snv 8.0E-06 0.700 1.000 10 1989 2001
dbSNP: rs763746230
rs763746230
UROD
1 1.000 0.160 1 45015365 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 10 1989 2001
dbSNP: rs764268015
rs764268015
UROD ; HECTD3
1 1.000 0.160 1 45012960 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 1989 2001
dbSNP: rs769378741
rs769378741
UROD ; HECTD3
2 0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06 0.700 1.000 10 1986 2011
dbSNP: rs776907084
rs776907084
UROD ; HECTD3
2 0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05 0.700 1.000 10 1986 2011
dbSNP: rs116233118
rs116233118
UROD
1 1.000 0.160 1 45015346 missense variant G/A;T snv 1.3E-03 0.700 0
dbSNP: rs1182234844
rs1182234844
UROD
1 1.000 0.160 1 45013742 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs121918062
rs121918062
UROD
1 1.000 0.160 1 45015006 splice region variant G/A snv 4.0E-06 0.700 0
dbSNP: rs141312224
rs141312224
UROD
1 1.000 0.160 1 45014505 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs145195562
rs145195562
UROD
2 0.925 0.160 1 45014071 splice donor variant G/C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs397514764
rs397514764
UROD ; HECTD3
1 1.000 0.160 1 45012271 frameshift variant AGCGAATGGG/- del 0.700 0
dbSNP: rs397514765
rs397514765
UROD
1 1.000 0.160 1 45013663 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs964670864
rs964670864
UROD
1 1.000 0.160 1 45014971 missense variant G/A snv 0.700 0