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: rs1057519051
rs1057519051
SLC22A5
0.882 0.200 5 132390825 stop gained T/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1057519051
rs1057519051
SLC22A5
0.882 0.200 5 132390825 stop gained T/G snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.700 0
dbSNP: rs1057519051
rs1057519051
SLC22A5
0.882 0.200 5 132390825 stop gained T/G snv
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		0.700 0