rs118204096, HMBS

N. diseases: 3
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 119091432 missense variant G/A snv 0.800 1.000 20 1991 2015
Ataxia
CUI: C0004134
Disease: Ataxia
68 1.000 0.160 11 119091432 missense variant G/A snv 0.010 1.000 1 2019 2019
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.160 11 119091432 missense variant G/A snv 0.010 1.000 1 2019 2019