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rs797044840

From SNPedia

ClinVar
Risk rs797044840(G;G)
Alt rs797044840(G;G)
Reference Rs797044840(CCTGCCTA;CCTGCCTA)
Significance Pathogenic
Disease Robinow syndrome
Variation info
Gene DVL1
CLNDBN Robinow syndrome, autosomal dominant 2
Reversed 1
HGVS NC_000001.10:g.1273413_1273420delTAGGCAGGinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000194315.2,