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rs797046037

From SNPedia

ClinVar
Risk
Alt
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,