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 2013
dbSNP: rs143823335
rs143823335
UROD
1 1.000 0.160 1 45014012 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
dbSNP: rs121918059
rs121918059
UROD
3 0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000