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rs797044834

From SNPedia

ClinVar
Risk rs797044834(;)
Alt rs797044834(;)
Reference rs797044834(ACCCGGCTGCCCC;ACCCGGCTGCCCC)
Significance Pathogenic
Disease Robinow syndrome
Variation info
Gene DVL1
CLNDBN Robinow syndrome, autosomal dominant 2
Reversed 1
HGVS NC_000001.10:g.1273479_1273491delGGGGCAGCCGGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000193850.3,