rs28931594, GJB2

N. diseases: 9
Disease: Dandy-Walker Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
0.010 GeneticVariation BEFREE Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. 19793313 2009