RS45517185 TSC2

Health Risk Chr 16:2065504 snv splice polypyrimidine tract variant

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Associated Conditions

Tuberous sclerosis 2

Tuberous sclerosis syndrome

Sarcoma

Tuberous sclerosis 2

Tuberous sclerosis syndrome

Sarcoma

Population Frequencies

gnomAD ALL

93.7%

1kG AFR

99.8%

1kG ALL

3.4%

1kG AMR

4.6%

1kG EAS

100%

1kG EUR

7.3%

1kG SAS

6.5%

Other Variants in TSC2