RS730882236 COG6

Health Risk Chr 13:39699477
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrosis
Intellectual disability
COG6-related disorder
COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrosis
Intellectual disability
COG6-related disorder
COG6-congenital disorder of glycosylation
Other Variants in COG6
rs387906959 rs794726950 rs781641023 rs561776134 rs146229425 rs117688574 rs370228676 rs144843064 rs147311831 rs1292534396
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