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rs863225450

From SNPedia

ClinVar
Risk rs863225450(;)
Alt rs863225450(;)
Reference rs863225450(CA;CA)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138665511_138665512delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005129.2,