Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777479
rs587777479
SOX11 ; LINC01248
0.800 GeneticVariation UNIPROT De novo SOX11 mutations cause Coffin-Siris syndrome. 24886874

2014
dbSNP: rs587777479
rs587777479
SOX11 ; LINC01248
G 0.800 CausalMutation CLINVAR