RS118161496 NUBPL

Health Risk Chr 14:31850091 snv intron variant

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What This Variant Does

"CLNSIG=255

Associated Conditions

Inborn genetic diseases

Mitochondrial complex I deficiency

nuclear type 21

Inborn genetic diseases

Mitochondrial complex I deficiency

nuclear type 21

Population Frequencies

gnomAD ALL

0.4%

1kG AFR

100%

1kG ALL

99.8%

1kG AMR

0.3%

1kG EAS

100%

1kG EUR

0.7%

1kG SAS

99.9%

Other Variants in NUBPL