rs121908893, 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.
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.730 1.000 10 2002 2015
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.010 1.000 1 2014 2014
Paresis
CUI: C0030552
Disease: Paresis
49 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.010 1.000 1 2014 2014