RS138811990 GNPTAB

Health Risk Chr 12:101765090 snv missense variant

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Associated Conditions

Mucolipidosis type II

Pseudo-Hurler polydystrophy

GNPTAB-related disorder

Mucolipidosis type II

Pseudo-Hurler polydystrophy

GNPTAB-related disorder

Population Frequencies

gnomAD ALL

100%

1kG AFR

0.5%

1kG ALL

99.9%

1kG AMR

100%

1kG EAS

100%

1kG EUR

100%

1kG SAS

100%

Other Variants in GNPTAB