RS139203363 SLC22A5

Health Risk Chr 5:132370005 snv missense variant
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What This Variant Does
"CLNSIG=1
Associated Conditions
Renal carnitine transport defect
Decreased circulating carnitine concentration
Renal carnitine transport defect
Renal carnitine transport defect
Decreased circulating carnitine concentration
Renal carnitine transport defect
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in SLC22A5
rs72552727 rs1554087461 rs121908886 rs121908887 rs386134217 rs72552735 rs121908888 rs121908889 rs121908890 rs68018207
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