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rs797044533

From SNPedia

ClinVar
Risk rs797044533(-;-)
Alt rs797044533(-;-)
Reference Rs797044533(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2 Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis syndrome type 2 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664694_138664710del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005134.2, RCV000192041.1,