Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894537
rs104894537
0.710 GeneticVariation BEFREE Sequencing of SALL1, the gene mutated in TBS, in four of the eight patients revealed one with a C --> T transition (resulting in a nonsense mutation R276X) at a previously identified mutational "hot spot." 11478532

2002

dbSNP: rs104894537
rs104894537
A 0.710 CausalMutation CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281

1999