rs144547521, SLC22A5

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.
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 1.000 0.160 5 132390830 missense variant C/T snv 8.0E-05 6.3E-05 0.800 1.000 19 1999 2017