RS121908923 COLQ

Health Risk Chr 3:15453837 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Congenital myasthenic syndrome 5
Slow-Channel Congenital Myasthenia Syndrome
Congenital myasthenic syndrome
COLQ-related disorder
Congenital myasthenic syndrome 5
Slow-Channel Congenital Myasthenia Syndrome
Congenital myasthenic syndrome
COLQ-related disorder
Population Frequencies
gnomAD ALL
0%
Other Variants in COLQ
rs104893733 rs104893734 rs121908922 rs769982050 rs759911990 rs121908924 rs1384843815 rs104893735 rs747648795 rs770045897
Ask Dr. Hemsworth about this variant