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rs587776517

From SNPedia

ClinVar
Risk rs587776517(;)
Alt rs587776517(;)
Reference rs587776517(ACAAGGTATCAATT;ACAAGGTATCAATT)
Significance Pathogenic
Disease Mitchell-Riley syndrome
Variation info
Gene RFX6
CLNDBN Mitchell-Riley syndrome
Reversed 0
HGVS NC_000006.11:g.117232204_117232217delAGGTATCAATTACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000530.3,