rs369428934, AHCY

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.
S-adenosylhomocysteine hydrolase deficiency
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
5 0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2010 2010