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rs797044529

From SNPedia

ClinVar
Risk rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC)
Alt rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC)
Reference rs797044529(;)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664708_138664724dup17
CLNSRC
CLNACC RCV000192037.1,