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rs724159987

From SNPedia

ClinVar
Risk rs724159987(;)
Alt rs724159987(;)
Reference rs724159987(ATTCAAGTAACTTGAA;ATTCAAGTAACTTGAA)
Significance Pathogenic
Disease Genitopatellar syndrome not provided
Variation info
Gene KAT6B
CLNDBN Genitopatellar syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788263_76788278del16
CLNSRC OMIM Allelic Variant
CLNACC RCV000023491.4, RCV000128644.1,