Variant: rs104894537 

    present in Gene: SALL1
    present in Chromosome: 16
    Position on Chromosome: 51141396
    Alleles of this Variant: G/A;T

rs104894537 in SALL1 gene and TOWNES-BROCKS SYNDROME 1 PMID 14627694 2003 High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

rs104894537 in SALL1 gene and Townes syndrome PMID 9973281 1999 Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.