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rs1057516182

From SNPedia
ClinVar
Risk rs1057516182(GCCGCACCGCCGCCTGCCCC;GCCGCACCGCCGCCTGCCCC)
Alt rs1057516182(GCCGCACCGCCGCCTGCCCC;GCCGCACCGCCGCCTGCCCC)
Reference Rs1057516182(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664639_138664658dup20
CLNSRC
CLNACC RCV000408783.1,