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: rs1057517306
rs1057517306
SLC22A5
1.000 0.160 5 132393678 frameshift variant -/C delins
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.700 1.000 1 2005 2005