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 0.730 1.000 3 1995 2011
dbSNP: rs121918059
rs121918059
UROD
3 0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06 0.710 1.000 1 1992 1992
dbSNP: rs121918058
rs121918058
UROD
2 0.925 0.160 1 45013933 missense variant G/A snv 0.700 0
dbSNP: rs121918060
rs121918060
UROD ; HECTD3
2 0.925 0.160 1 45013187 missense variant C/T snv 0.700 0
dbSNP: rs121918061
rs121918061
UROD
3 0.882 0.160 1 45014996 missense variant A/G;T snv 8.0E-06 0.700 0
dbSNP: rs769378741
rs769378741
UROD ; HECTD3
2 0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs776907084
rs776907084
UROD ; HECTD3
2 0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000