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rs797044528

From SNPedia

ClinVar
Risk rs797044528(C;C)
Alt rs797044528(C;C)
Reference rs797044528(;)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2 Blepharophimosis syndrome type 1 Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis syndrome type 2 Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664761dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005132.2, RCV000005133.2, RCV000192036.1,