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rs797045454

From SNPedia

ClinVar
Risk
Alt
Reference Rs797045454(GA;GA)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 1
HGVS NC_000013.10:g.25482232_25482233delCT
CLNSRC
CLNACC RCV000193152.1,