RS2230892 NDUFS1

Health Risk Chr 2:206138505 snv synonymous variant

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Associated Conditions

Mitochondrial complex I deficiency

nuclear type 1

Leigh syndrome

nuclear type 5

Gastric cancer

Uterine carcinosarcoma

Lung cancer

Thyroid cancer

nonmedullary

Melanoma

Acute myeloid leukemia

Hepatocellular carcinoma

Uterine corpus endometrial carcinoma

Ovarian serous cystadenocarcinoma

Population Frequencies

gnomAD ALL

98.4%

1kG AFR

0.2%

1kG ALL

99.5%

1kG AMR

98.8%

1kG EAS

100%

1kG EUR

1.3%

1kG SAS

0.3%

Other Variants in NDUFS1