Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118204107
rs118204107
HMBS
1.000 0.160 11 119089747 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.710 1.000 0 1999 1999