Disease: Disorders of Porphyrin Metabolism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs121918324
PPOX
0.925 0.160 1 161167187 missense variant C/T snv 3