rs1553784980, SLC2A2

N. diseases: 1
Source: CURATED ×
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.
Fanconi-Bickel Syndrome
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
15 1.000 0.120 3 170998208 frameshift variant CA/- delins 0.700 0