rs386833823, SLC7A7

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.
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
47 1.000 0.080 14 22778850 missense variant G/A;C snv 4.0E-06 0.810 1.000 9 1998 2019