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rs587779590

From SNPedia

ClinVar
Risk rs587779590(GACCTGAGAC;GACCTGAGAC)
Alt rs587779590(GACCTGAGAC;GACCTGAGAC)
Reference rs587779590(TAGTAATGTAAGTA;TAGTAATGTAAGTA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189868507_189868520delTAGTAATGTAAGTAinsGACCTGAGAC
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087542.1,