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rs1057517177

From SNPedia

ClinVar
Risk rs1057517177(-;-)
Alt rs1057517177(-;-)
Reference Rs1057517177(CAACAAGA;CAACAAGA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100155214_100155221delAACAAGAC
CLNSRC
CLNACC RCV000411115.1,