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rs1057516495

From SNPedia
ClinVar
Risk rs1057516495(-;-)
Alt rs1057516495(-;-)
Reference Rs1057516495(AAGGTCTTCTGGGGTC;AAGGTCTTCTGGGGTC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100732573_100732588del16
CLNSRC
CLNACC RCV000410227.1,