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rs1057519472

From SNPedia
ClinVar
Risk rs1057519472(-;-)
Alt rs1057519472(-;-)
Reference Rs1057519472(CCGCCATG;CCGCCATG)
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.1610796_1610803delCCATGCCG
CLNSRC
CLNACC RCV000416537.1,