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When one queries by dbSNP rs identifier, an example SQL query looks like:
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select count(distinct patient_num) |
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from observation_fact |
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where contains(observation_blob, 'FAM148 AND (stop_loss OR missense)') |
When one queries by gene name, an example SQL query looks like:
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select count(distinct patient_num) |
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from observation_fact |
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where contains(observation_blob, 'rs183605470 AND heterozygous') |
