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rs1057517202

From SNPedia

ClinVar
Risk rs1057517202(-;-)
Alt rs1057517202(-;-)
Reference Rs1057517202(CACTGGATGA;CACTGGATGA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100874064_100874073delCACTGGATGA
CLNSRC
CLNACC RCV000411667.1,