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rs864309663

From SNPedia

ClinVar
Risk rs864309663(;)
Alt rs864309663(;)
Reference rs864309663(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene COL13A1
CLNDBN Myasthenic syndrome, congenital, 19
Reversed 0
HGVS NC_000010.10:g.71648059delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000203249.1,