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rs764365793

From SNPedia

ClinVar
Risk rs764365793(GCCT;GCCT)
Alt rs764365793(GCCT;GCCT)
Reference rs764365793(;)
Significance Pathogenic
Disease Myasthenia not provided Congenital myasthenic syndrome
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial not provided Congenital myasthenic syndrome
Reversed 0
HGVS NC_000004.11:g.3494837_3494840dupTGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001335.5, RCV000202989.1, RCV000235027.1,