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rs797044697

From SNPedia

ClinVar
Risk rs797044697(TTAG;TTAG)
Alt rs797044697(TTAG;TTAG)
Reference rs797044697(;)
Significance Probable-Pathogenic
Disease Hereditary myopathy with early respiratory failure
Variation info
Gene TTN TTN-AS1
CLNDBN Hereditary myopathy with early respiratory failure
Reversed 1
HGVS NC_000002.11:g.179428314_179428315insCTAA
CLNSRC
CLNACC RCV000176832.1,