rs121918608, AHCY

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.
S-adenosylhomocysteine hydrolase deficiency
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
5 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.800 1.000 4 2004 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 5 2006 2016
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 1 2017 2017