RS138460117 HSPG2

Health Risk Chr 1:21864979 snv missense variant

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Associated Conditions

Schwartz-Jampel syndrome

Lethal Kniest-like syndrome

HSPG2-related disorder

Schwartz-Jampel syndrome

Lethal Kniest-like syndrome

HSPG2-related disorder

Population Frequencies

gnomAD ALL

99.8%

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.2%

1kG SAS

100%

Other Variants in HSPG2