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rs1057516183

From SNPedia
ClinVar
Risk rs1057516183(GCCGCCGGGCC;GCCGCCGGGCC)
Alt rs1057516183(GCCGCCGGGCC;GCCGCCGGGCC)
Reference Rs1057516183(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664604_138664614dupGGCCCGGCGGC
CLNSRC
CLNACC RCV000408828.1,