rs1555475319, SALL1

N. diseases: 1
Disease: Townes syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Townes syndrome
CUI: C0265246
Disease: Townes syndrome
0.700 CausalMutation CLINVAR SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 16088922 2005
Townes syndrome
CUI: C0265246
Disease: Townes syndrome
0.700 CausalMutation CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999