Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894537
rs104894537
SALL1
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
SALL1
A 0.710 CausalMutation CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281

1999
dbSNP: rs1555475319
rs1555475319
SALL1
A 0.700 CausalMutation CLINVAR SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 16088922

2005
dbSNP: rs1555475319
rs1555475319
SALL1
A 0.700 CausalMutation CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281

1999
dbSNP: rs104894538
rs104894538
SALL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064793257
rs1064793257
SALL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555475106
rs1555475106
SALL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555475120
rs1555475120
SALL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555475275
rs1555475275
SALL1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1555475334
rs1555475334
SALL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797092
rs1064797092
DACT1
0.010 GeneticVariation BEFREE Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome. 28054444

2017