VWA2 Chromosome 10

Von Willebrand factor A domain containing 2

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

Associated Conditions (1)

Vesicoureteral reflux

Key Variants

RS148731211

Likely pathogenic

Vesicoureteral reflux, Vesicoureteral reflux

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS148731211	Health Risk	Likely pathogenic	Vesicoureteral reflux, Vesicoureteral reflux