rs1553785033, SLC2A2

N. diseases: 6
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.
Abdomen distended
CUI: C0000731
Disease: Abdomen distended
6 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
Chronic acidosis
CUI: C1735903
Disease: Chronic acidosis
1 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
Fanconi-Bickel Syndrome
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
17 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
Impairment of galactose metabolism
CUI: C4021643
Disease: Impairment of galactose metabolism
1 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
Renal tubular disorder
CUI: C0151747
Disease: Renal tubular disorder
5 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0