Table 1 Detected rare variant in LDB2.
From: LDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder
Variant No. | Position in LDB2 | Position of variant (GRCh37) | Coding DNA change | Amino acid change | dbSNP ID | MAF (in this study) | MAF (public database) | |||
|---|---|---|---|---|---|---|---|---|---|---|
SZ | BP | C | gnomAD v2.1.1 | jMorp | ||||||
1 | Exon 2 | 16760830 | c.186C>T | p.Asp62Asp | rs144018108 | 0.001 | 0.0012 | 0 | 0.00100 | 0.00100 |
2 | Exon 3 | 16597486 | c.248C>A | p.Thr83Asn | NA | 0 | 0.0012 | 0 | NA | NA |
3 | Exon 3 | 16597383 | c.351G>A | p.Thr117Thr | rs1287331315 | 0 | 0 | 0.0013 | NA | NA |
4 | Exon 4 | 16590408 | c.456G>C | p.Leu152Leu | rs771249608 | 0.001 | 0 | 0 | 0.00004 | 0.00040 |
5 | Exon 4 | 16590355 | c.509C>T | p.Pro170Leu | rs138524887 | 0 | 0.00120 | 0 | 0.00004 | NA |
6 | Exon 7 | 16508563 | c.861T>C | p.Ala287Ala | NA | 0 | 0.00240 | 0 | NA | NA |
