RS121909192 SMN2

Health Risk Chr 5:70076544 snv missense variant

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What This Variant Does

"[OMIM:?]

Associated Conditions

Spinal muscular atrophy

modifier of

Kugelberg-Welander disease

Spinal muscular atrophy

modifier of

Kugelberg-Welander disease

Population Frequencies

gnomAD ALL

0.3%

1kG AFR

100%

1kG ALL

0.1%

1kG AMR

100%

1kG EAS

100%

1kG EUR

99.7%

1kG SAS

99.8%