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rs587779628

From SNPedia

ClinVar
Risk rs587779628(ACCTGGGCAAGCTGG;ACCTGGGCAAGCTGG)
Alt rs587779628(ACCTGGGCAAGCTGG;ACCTGGGCAAGCTGG)
Reference rs587779628(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189853348_189853362dupACCTGGGCAAGCTGG
CLNSRC
CLNACC RCV000087591.1,