Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315514
rs74315514
POLR2F ; SOX10
0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166

2006
dbSNP: rs74315515
rs74315515
POLR2F ; SOX10
0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166

2006
dbSNP: rs74315520
rs74315520
POLR2F ; SOX10
0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166

2006