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rs797044530

From SNPedia

ClinVar
Risk rs797044530(GGCCGCACCCCCGCCTCCGCCGC;GGCCGCACCCCCGCCTCCGCCGC)
Alt rs797044530(GGCCGCACCCCCGCCTCCGCCGC;GGCCGCACCCCCGCCTCCGCCGC)
Reference Rs797044530(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664700_138664722dup23
CLNSRC
CLNACC RCV000192038.1,