RS139722128 CHRND

Health Risk Chr 2:232531423 snv missense variant
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Associated Conditions
Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
99.9%
Other Variants in CHRND
rs121909502 rs121909503 rs121909504 rs879255564 rs121909505 rs121909506 rs121909508 rs145955590 rs142531974 rs2229194
Ask Dr. Hemsworth about this variant