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rs587779525

From SNPedia

ClinVar
Risk rs587779525(;)
Alt rs587779525(;)
Reference rs587779525(CCTGGACAAAGAGGAGAA;CCTGGACAAAGAGGAGAA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189858135_189858152del18
CLNSRC
CLNACC RCV000087462.1,