Table 1.
An Overview of Phenotype-Associated Polymorphisms Within Ultraconserved Elements for Which Literature References Have Been Found
| Polymorphism name | Chr. | UCE ID | Gene | Associated phenotype description (comment) | Source |
|---|---|---|---|---|---|
| rs17105335 | 1 | 371 | AGBL4 | Amyotrophic lateral sclerosis (in Irish cohort) | Cronin et al. (2008) |
| rs2020906 | 2 | 6629 | FBXO11, MSH6 | Lynch syndrome (likely neutral variant) | Hansen et al. (2014) |
| rs10496382 | 2 | 7038 | / | Height (among top highly constrained SNPs associated with height detected in 23,764 European American samples from the National Heart, Lung, and Blood Institute Candidate Gene Association Resource, but after adding the data from the GIANT consortium, significance was lost) | Chiang et al. (2012) |
| rs13382811 | 2 | 7246 | ZEB2 | Severe myopia | Khor et al. (2013) |
| rs104893634 | 2 | 7789 | HOXD10, HOXD9, HOXD-AS2 (AS) | Vertical talus congenital | Dobbs et al. (2006); Shrimpton et al. (2004) |
| rs2307121 | 5 | 10019 | ADAMTS6 | Central corneal thickness | Lu et al. (2013) |
| rs587777277 | 5 | 10277 | NR2F1, NR2F1-AS1 (AS) | Bosch-Boonstra-Schaaf optic atrophy syndrome | Bosch et al. (2014) |
| rs587777275 | 5 | 10277 | NR2F1, NR2F1-AS1 (AS) | Bosch-Boonstra-Schaaf optic atrophy syndrome | Bosch et al. (2014) |
| rs587777274 | 5 | 10277 | NR2F1, NR2F1-AS1 (AS) | Bosch-Boonstra-Schaaf optic atrophy syndrome | Bosch et al. (2014) |
| rs387906239 | 5 | 10358 | APC | Familial adenomatous polyposis 1 attenuated | Soravia et al. (1999) |
| rs3797704 | 5 | 10358 | APC | No association with breast cancer | Chang et al. (2016) |
| rs387906232 | 5 | 10358 | APC | Familial adenomatous polyposis 1 | Fodde et al. (1992) |
| rs387906237 | 5 | 10358 | APC | Familial adenomatous polyposis 1 attenuated | Curia et al. (1998) |
| rs121434591 | 5 | 10453 | MATR3 (ENSG00000280987, ENSG00000015479) | Distal myopathy | Senderek et al. (2009) |
| rs587777300 | 5 | 10453 | MATR3 (ENSG00000280987, ENSG00000015479) | Amyotrophic lateral sclerosis 21 | Johnson et al. (2014) |
| rs863223403 | 9 | 12957 | HNRNPK | Au-Kline syndrome | Au et al. (2015) |
| rs121917900 | 10 | 1446 | ERCC6 | Cockayne syndrome B | Mallery et al. (1998) |
| rs75462234 | 10 | 1766 | PAX2 | Papillorenal syndrome | Schimmenti et al. (1999) |
| rs77453353 | 10 | 1766 | PAX2 | Renal coloboma syndrome | Amiel et al. (2000) |
| rs76675173 | 10 | 1766 | PAX2 | Papillorenal syndrome | Schimmenti et al. (1997) |
| rs587777708 | 10 | 1766 | PAX2 | Focal segmental glomerulosclerosis 7 | Barua et al. (2014) |
| rs11190870 | 10 | 1798 | / | Adolescent idiopathic scoliosis (severe), no association with breast cancer | Chettier et al. (2015); Gao et al. (2013); Grauers et al. (2015); Jiang et al. (2013); Londono et al. (2014); Miyake et al. (2013); Shen et al. (2011); Takahashi et al. (2011) |
| rs724159963 | 11 | 2195 | FAR1 | Peroxisomal fatty acyl-CoA reductase 1 disorder | Buchert et al. (2014) |
| rs16932455 | 11 | 2242 | SOX6 | Capecitabine sensitivity | O'Donnell et al. (2012) |
| rs997295 | 15 | 4568 | MAP2K5 | Motion sickness; BMI | De et al. (2015); Guo et al. (2013); Hromatka et al. (2015) |
| rs587777373 | 15 | 4731 | NR2F2 | Congenital heart defects multiple types 4 | Al Turki et al. (2014) |
| rs398123839 | X | 13372 | DMD | Duchenne muscular dystrophy | Hofstra et al. (2004); Roberts et al. (1992) |
| rs863224976 | X | 13372 | DMD | Becker muscular dystrophy | Tuffery-Giraud et al. (2005) |
| rs132630295 | X | 13568 | PLP1 | Spastic paraplegia 2 X-linked | Gorman et al. (2007) |
| rs132630287 | X | 13568 | PLP1 | Spastic paraplegia 2 X-linked | Saugier-Veber et al. (1994) |
| rs132630292 | X | 13568 | PLP1 | Pelizaeus/Merzbacher disease atypical | Hodes et al. (1997) |
| rs137852350 | X | 13607 | GRIA3 | Mental retardation X-linked 94 | Wu et al. (2007) |
| rs122459149 | X | 13666 | FHL1 | Emery-Dreifuss muscular dystrophy 6 X-linked | Gueneau et al. (2009); Knoblauch et al. (2010) |
| rs122458141 | X | 13666 | FHL1 | Myopathy X-linked with postural muscle atrophy | Schoser et al. (2009); Windpassinger et al. (2008) |
| rs786200914 | X | 13666 | FHL1 | Myopathy X-linked with postural muscle atrophy | Schoser et al. (2009) |
| rs267606811 | X | 13667 | FHL1 | Myopathy X-linked with postural muscle atrophy | Windpassinger et al. (2008) |
| rs62621672 | X | 13736 | MECP2 | Rett syndrome (nonpathogenic variant) | Zahorakova et al. (2007) |
ADAMTS6, ADAM metallopeptidase with thrombospondin type 1 motif 6 gene; BMI, body mass index; FHL1, four and a half LIM domains 1; MAP2K5, mitogen-activated protein kinase kinase 5; MECP2, methyl-CpG-binding protein 2; SNPs, single nucleotide polymorphisms; SOX6, SRY-box 6 gene; UCE, ultraconserved element; ZEB2, zinc finger E-box-binding homeobox 2.