RS121918221 SEC23B

Health Risk Chr 20:18515694 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Congenital dyserythropoietic anemia
type II
Cowden syndrome 7
SEC23B-related disorder
See cases
Congenital dyserythropoietic anemia
type II
Cowden syndrome 7
SEC23B-related disorder
See cases
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.9%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in SEC23B
rs121918222 rs121918223 rs121918224 rs121918225 rs121918226 rs398124225 rs398124226 rs398124227 rs199939108 rs6045440
Ask Dr. Hemsworth about this variant