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rs587779425

From SNPedia

ClinVar
Risk rs587779425(;)
Alt rs587779425(;)
Reference rs587779425(GCTGCAGTGAGTATA;GCTGCAGTGAGTATA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189856448_189856462delAGTGAGTATAGCTGC
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087348.1,