RS114269482 SLC22A5

Health Risk Chr 5:132385369 snv missense variant

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What This Variant Does

"CLNSIG=5

Associated Conditions

Renal carnitine transport defect

Acute rhabdomyolysis

Renal carnitine transport defect

Acute rhabdomyolysis

Population Frequencies

gnomAD ALL

100%

1kG AFR

99.9%

1kG ALL

99.9%

1kG AMR

99.9%

1kG EAS

100%

1kG EUR

99.9%

1kG SAS

100%

Other Variants in SLC22A5