RS138659167 DHCR7

Health Risk Chr 11:71435839 snv splice acceptor variant

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What This Variant Does

"rs138659167, also known as c.964-1G&gt

Associated Conditions

Smith-Lemli-Opitz syndrome

Inborn genetic diseases

DHCR7-related disorder

See cases

Thymoma

Melanoma

Familial cancer of breast

Acute myeloid leukemia

Malignant tumor of urinary bladder

Malignant tumor of esophagus

Nonpapillary renal cell carcinoma

Thyroid cancer

nonmedullary

Cholangiocarcinoma

Population Frequencies

gnomAD ALL

99.2%

1kG AFR

0.2%

1kG ALL

99.7%

1kG AMR

0.3%

1kG EAS

100%

1kG EUR

99.1%

1kG SAS

100%

Other Variants in DHCR7