RS139428292 RBM8A

Health Risk Chr 1:145927446 snv 5 prime UTR variant

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What This Variant Does

"rs139428292, also known as c.-21G&gt

Associated Conditions

Radial aplasia-thrombocytopenia syndrome

RBM8A-related disorder

Inborn genetic diseases

Radial aplasia-thrombocytopenia syndrome

RBM8A-related disorder

Inborn genetic diseases

GWAS Studies (1)

Trait	Risk Allele	OR / Beta	P-value	Study
Urate levels	A	β: 0.073	5E-8	PubMed

ClinVar Assertions (1)

NM_005105.5(RBM8A):c.-21G>A

· 40 submitters

Population Frequencies

gnomAD ALL

2.6%

1kG AFR

99.9%

1kG ALL

99%

1kG AMR

98.4%

1kG EAS

100%

1kG EUR

96.7%

1kG SAS

99.6%

Other Variants in RBM8A