Table 3. Tabular overview of all NR34C1 variants reported in this paper.
| This study | MAF in control population | |||||
|---|---|---|---|---|---|---|
| Current name | Change at DNA and protein level | refSNP | MAF (411 patients) | 1000 Genomes EUR (NCBI Assay ID) | ESP EA | ExACNFE |
| ER23/23EK | c.66G>A (p.Glu22Glu) | rs6189 | 2.19% | 2.98% (ss1317539291) | 2.93% | 2.44% |
| c.68G>A (p.Arg23Lys) | rs6190 | 2.98% (ss1317539290) | 2.85% | 2.44% | ||
| N363S | c.1088A>G (p.Asn363Ser) | rs56149945 (former rs6195 or rs356601909) | 2.67% | 1.79% (ss1317539264) | 3.06% | 3.19% |
| BclI | c.1184+646C>G (p.?) | rs41423247 | 32.8% | 37.97% (ss1317539254) | N/A | N/A |
MAF: Minor Allelic Frequency
1000 Genomes: 1000 genome project Phase3_V1 A global reference for human genetic variation, The 1000 Genomes Project Consortium, Nature 526, 68–74 (01 October 2015) doi:10.1038/nature15393. (URL: http://www.1000genomes.org/) [07,2016 accessed].
EUR: 1,006 samples of European ancestry
ESP: Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA (URL: http://evs.gs.washington.edu/EVS/) [07,2016 accessed]
EA: 4,300 European American individuals
ExAC: Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [07,2016 accessed]
NFE: al least 33,329 European (Non Finnish) subjects
N/A: not available, deep intronic position