rs121908888, 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 132384281 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 18 1999 2017