rs369855221, HMBS

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acute intermittent porphyria
CUI: C0162565
Disease: Acute intermittent porphyria
68 1.000 0.160 11 119092797 missense variant A/G snv 5.6E-05 0.010 1.000 1 2008 2008
Disorders of Porphyrin Metabolism
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
7 1.000 0.160 11 119092797 missense variant A/G snv 5.6E-05 0.010 1.000 1 2008 2008