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rs1057516841

From SNPedia

ClinVar
Risk rs1057516841(-;-)
Alt rs1057516841(-;-)
Reference Rs1057516841(CTATAG;CTATAG)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100711748_100711753delTATAGC
CLNSRC
CLNACC RCV000410909.1,