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rs587776584

From SNPedia

ClinVar
Risk rs587776584(;)
Alt rs587776584(;)
Reference rs587776584(GCCAAGGTGAGTGGGACT;GCCAAGGTGAGTGGGACT)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149747478_149747495del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000004173.4,