rs1057519565 in
DEAF1 gene and
Acid reflux
PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
rs151344517 in
LOC107985154;AFG3L2;TUBB6 gene and
Acid reflux
PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
rs1563686762 in
RAD21;UTP23 gene and
Acid reflux
PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
rs1557043622 in
SLC35A2 gene and
Acid reflux
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1114167445 in
SPTBN4 gene and
Acid reflux
PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.