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rs797046037

From SNPedia

ClinVar
Risk rs797046037(;)
Alt rs797046037(;)
Reference rs797046037(AC;AC)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149748286_149748287delCA
CLNSRC
CLNACC RCV000192389.1,