rs28935475, HSD17B10

N. diseases: 1
Source: UNIPROT ×
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
8 X 53432086 missense variant G/A snv 0.800 0