RS115099192 GATA4

Health Risk Chr 8:11758365 snv missense variant
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=5
Associated Conditions
Tetralogy of Fallot
Ventricular septal defect 1
Atrioventricular septal defect 4
Atrial septal defect 2
46
XY sex reversal 3
Microcephaly
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
Ventricular septal defect 1
Atrioventricular septal defect 4
Atrial septal defect 2
46
XY sex reversal 3
Microcephaly
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
0.4%
1kG EUR
100%
1kG SAS
0.2%
Other Variants in GATA4
rs104894073 rs1585703301 rs104894074 rs56208331 rs387906769 rs368489876 rs1182566703 rs387906772 rs3729856 rs55980825
Ask Dr. Hemsworth about this variant