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rs1057517319

From SNPedia

ClinVar
Risk rs1057517319(-;-)
Alt rs1057517319(-;-)
Reference Rs1057517319(TTGT;TTGT)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100147893_100147896delTTTG
CLNSRC
CLNACC RCV000409371.1,