RS3729856 GATA4

Health Risk Chr 8:11757065 snv missense variant

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What This Variant Does

"CLNSIG=4

Associated Conditions

Cardiovascular phenotype

Atrioventricular septal defect 4

Neonatal insulin-dependent diabetes mellitus

Cardiovascular phenotype

Atrioventricular septal defect 4

Neonatal insulin-dependent diabetes mellitus

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
Apolipoprotein A1 levels	G	β: 0.025	5E-10	PubMed
Serum alkaline phosphatase levels	G	β: 0.023	1E-9	PubMed

Population Frequencies

gnomAD ALL

88.8%

1kG AFR

99%

1kG ALL

4.3%

1kG AMR

93.2%

1kG EAS

99.9%

1kG EUR

11.9%

1kG SAS

96.5%

Other Variants in GATA4