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rs777893196

From SNPedia

ClinVar
Risk rs777893196(;)
Alt rs777893196(;)
Reference rs777893196(AGAA;AGAA)
Significance Pathogenic
Disease Seckel syndrome 4
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 4
Reversed 0
HGVS NC_000013.10:g.25480769_25480772delAGAA
CLNSRC
CLNACC RCV000194484.1,