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rs863225451

From SNPedia

ClinVar
Risk rs863225451(ACCGCCGC;ACCGCCGC)
Alt rs863225451(ACCGCCGC;ACCGCCGC)
Reference rs863225451(;)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138664646_138664653dupGCGGCGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005130.2,