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rs1057519380

From SNPedia

ClinVar
Risk rs1057519380(TAGCTATCGTTCTTTT;TAGCTATCGTTCTTTT)
Alt rs1057519380(TAGCTATCGTTCTTTT;TAGCTATCGTTCTTTT)
Reference Rs1057519380(-;-)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1
Variation info
Gene CTNNB1
CLNDBN Exudative vitreoretinopathy 1
Reversed 0
HGVS NC_000003.11:g.41280629_41280644dup16
CLNSRC
CLNACC RCV000416893.1,