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rs1057516726

From SNPedia
ClinVar
Risk rs1057516726(-;-)
Alt rs1057516726(-;-)
Reference Rs1057516726(CTTA;CTTA)
Significance Probable-Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100128066_100128069delACTT
CLNSRC
CLNACC RCV000412175.1, RCV000480446.1,