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: rs1553948516
rs1553948516
SCARB2
0.925 0.120 4 76181009 frameshift variant -/G delins
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.700 0
dbSNP: rs1553948516
rs1553948516
SCARB2
0.925 0.120 4 76181009 frameshift variant -/G delins
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.700 0
dbSNP: rs1553948516
rs1553948516
SCARB2
0.925 0.120 4 76181009 frameshift variant -/G delins
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.700 0