rs1057516036 in
COL1A2 gene and
Osteopenia
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1064795104 in
EXOC6B gene and
Osteopenia
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs151344517 in
LOC107985154;AFG3L2;TUBB6 gene and
Osteopenia
PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
rs1557043622 in
SLC35A2 gene and
Osteopenia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.