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rs1057519471

From SNPedia
ClinVar
Risk rs1057519471(-;-)
Alt rs1057519471(-;-)
Reference Rs1057519471(GGGGGCGGCT;GGGGGCGGCT)
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.1610780_1610789delGGGGGCGGCT
CLNSRC
CLNACC RCV000416515.1,