RS113002470 EVC

Health Risk Chr 4:5731608 snv missense variant

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Associated Conditions

Ellis-van Creveld syndrome

Curry-Hall syndrome

Inborn genetic diseases

Ellis-van Creveld syndrome

Curry-Hall syndrome

Inborn genetic diseases

Population Frequencies

gnomAD ALL

100%

1kG AFR

99.8%

1kG ALL

0.1%

1kG AMR

99.7%

1kG EAS

100%

1kG EUR

99.9%

1kG SAS

100%

Other Variants in EVC