rs536814318, HMBS

N. diseases: 1
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 119091446 missense variant G/A snv 5.0E-04 2.8E-05 0.810 1.000 21 1991 2015