rs1057516534, ALDOB

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.
Hereditary fructose intolerance syndrome
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
47 1.000 0.080 9 101430775 splice donor variant C/- delins 0.700 1.000 1 2015 2015