RS138611001 CLN5

Health Risk Chr 13:77000470 snv missense variant

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Associated Conditions

Neuronal ceroid lipofuscinosis 5

Neuronal ceroid lipofuscinosis

Inborn genetic diseases

Neuronal ceroid lipofuscinosis 5

Neuronal ceroid lipofuscinosis

Inborn genetic diseases

Population Frequencies

gnomAD ALL

98.6%

1kG AFR

0.1%

1kG ALL

0.4%

1kG AMR

100%

1kG EAS

100%

1kG EUR

99.2%

1kG SAS

1.1%

Other Variants in CLN5