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rs672601358

From SNPedia

ClinVar
Risk rs672601358(TCAGCCCTGCCAGCCCAGC;TCAGCCCTGCCAGCCCAGC)
Alt rs672601358(TCAGCCCTGCCAGCCCAGC;TCAGCCCTGCCAGCCCAGC)
Reference Rs672601358(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664582_138664600dup19
CLNSRC
CLNACC RCV000149461.1,