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: rs121908015
rs121908015
UROS
2 1.000 0.120 10 125816490 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918057
rs121918057
UROD
4 0.882 0.160 1 45014803 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1986 1986
dbSNP: rs121918324
rs121918324
PPOX
3 0.925 0.160 1 161167187 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2002 2002
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 2002 2002
dbSNP: rs369855221
rs369855221
HMBS
2 1.000 0.160 11 119092797 missense variant A/G snv 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs761004837
rs761004837
HMBS
2 1.000 0.160 11 119089097 missense variant C/T snv 1.1E-04 4.9E-05 0.010 1.000 1 2008 2008