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rs863225453

From SNPedia

ClinVar
Risk rs863225453(G;G)
Alt rs863225453(G;G)
Reference Rs863225453(;)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138664606dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005143.2,