Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554085861
rs1554085861
SLC22A5 ; MIR3936HG
1.000 0.160 5 132369882 start lost GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- del
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.700 1.000 3 1999 2017