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rs1057516670

From SNPedia

ClinVar
Risk rs1057516670(AATCATATCAGGCCTCTGA;AATCATATCAGGCCTCTGA)
Alt rs1057516670(AATCATATCAGGCCTCTGA;AATCATATCAGGCCTCTGA)
Reference Rs1057516670(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100403877_100403895dup19
CLNSRC
CLNACC RCV000410992.1,