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rs587779700

From SNPedia

ClinVar
Risk rs587779700(;)
Alt rs587779700(;)
Reference rs587779700(TCTCCCAGGG;TCTCCCAGGG)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189863394_189863403delTCCCAGGGTC
CLNSRC
CLNACC RCV000087701.1,