RS112637707 LAMA2

Health Risk Chr 6:129456331 snv splice region variant

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Associated Conditions

LAMA2-related muscular dystrophy

Congenital muscular dystrophy due to partial LAMA2 deficiency

LAMA2-related disorder

LAMA2-related muscular dystrophy

Congenital muscular dystrophy due to partial LAMA2 deficiency

LAMA2-related disorder

Population Frequencies

gnomAD ALL

100%

1kG AFR

99.6%

1kG ALL

99.9%

1kG AMR

100%

1kG EAS

100%

1kG EUR

100%

1kG SAS

100%

Other Variants in LAMA2