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rs864309662

From SNPedia

ClinVar
Risk rs864309662(;)
Alt rs864309662(;)
Reference rs864309662(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene COL13A1
CLNDBN Myasthenic syndrome, congenital, 19
Reversed 0
HGVS NC_000010.10:g.71682526delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000203254.1,