RS11592273 HPS1

Health Risk Chr 10:98429810 snv missense variant

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Associated Conditions

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome 1

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome 1

Population Frequencies

gnomAD ALL

6.8%

1kG AFR

1.4%

1kG ALL

0.4%

1kG AMR

0.1%

1kG EAS

99.9%

1kG EUR

92.7%

1kG SAS

98.7%

Other Variants in HPS1