rs1057519051, SLC22A5

N. diseases: 3
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.
Anemia of inadequate production
CUI: C0678199
Disease: Anemia of inadequate production
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0