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rs1057518980

From SNPedia
ClinVar
Risk rs1057518980(-;-)
Alt rs1057518980(-;-)
Reference Rs1057518980(AATATAAATC;AATATAAATC)
Significance Probable-Pathogenic
Disease Lymphoedema Microcephaly Retinal dysplasia
Variation info
Gene KIF11
CLNDBN Lymphoedema Microcephaly Retinal dysplasia
Reversed 0
HGVS NC_000010.10:g.94373206_94373215delATAAATCAAT
CLNSRC
CLNACC RCV000415366.1,