RS1051519 HADH

Health Risk Chr 4:108019575 snv splice acceptor variant
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Associated Conditions
Monogenic diabetes
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia
familial
4
HADH-related disorder
Monogenic diabetes
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Hyperinsulinemic hypoglycemia
familial
4
HADH-related disorder
Population Frequencies
gnomAD ALL
0.3%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
99.7%
1kG SAS
100%
Other Variants in HADH
rs137853101 rs137853102 rs137853103 rs2126234459 rs375717077 rs786200932 rs377521547 rs534966818 rs762771153 rs146036912
Ask Dr. Hemsworth about this variant