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rs587780494

From SNPedia

ClinVar
Risk rs587780494(TGTAAGGAAACAGACA;TGTAAGGAAACAGACA)
Alt rs587780494(TGTAAGGAAACAGACA;TGTAAGGAAACAGACA)
Reference rs587780494(;)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN LOC101927055
CLNDBN Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179639882_179639883insTGTCTGTTTCCTTACA
CLNSRC
CLNACC RCV000118780.1,