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rs1057519479

From SNPedia

ClinVar
Risk rs1057519479(-;-)
Alt rs1057519479(-;-)
Reference Rs1057519479(GCATCCAGGACATCAA;GCATCCAGGACATCAA)
Significance Pathogenic
Disease Axenfeld-Rieger syndrome type 3
Variation info
Gene FOXC1
CLNDBN Axenfeld-Rieger syndrome type 3
Reversed 0
HGVS NC_000006.11:g.1611346_1611361del16
CLNSRC
CLNACC RCV000416521.1,