rs1060499548 in
ABL1 gene and
Thin lips
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs1555743003 in
ASXL3 gene and
Thin lips
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.