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rs587779681

From SNPedia

ClinVar
Risk rs587779681(TACTAAATATA;TACTAAATATA)
Alt rs587779681(TACTAAATATA;TACTAAATATA)
Reference rs587779681(CCTTCAGTAAGT;CCTTCAGTAAGT)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189853364_189853375delCCTTCAGTAAGTinsTACTAAATATA
CLNSRC
CLNACC RCV000087677.1,