rs28935476, HSD17B10

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.
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
10 X 53432110 missense variant G/C snv 5.5E-06 9.5E-06 0.810 1.000 1 2019 2019