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rs863225452

From SNPedia

ClinVar
Risk rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
Alt rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
Reference rs863225452(;)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis syndrome type 2
Reversed 1
HGVS NC_000003.11:g.138665373_138665387dupGGCGATGAGCGCCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005131.2,