Table 2 Common SNVs associated with non-syndromic sagittal craniosynostosis included in craniosynostosis-associated genes panel (based on Justice et al.46).
SNV | Gene | Genomic region | Description |
---|---|---|---|
rs1009355 | BBS9 | Chr7:33218763 | common intron variant; NM_198428.2:c.442 + 1560T > A |
rs10254116 | BBS9 | Chr7:33237489 | common intron variant, NM_198428.2:c.442 + 20286T > C |
rs10262453 | BBS9 | Chr7:33256039 | common intron variant, NM_198428.2:c.442 + 38836A > C |
rs1420154 | BBS9 | Chr7:33290931 | common intron variant, NM_198428.2:c.443-5917G > A |
rs142092 | n/a | Chr20:7093432 | common genomic variant, NC_000020.10:g.7093432T > C |
rs179753 | LINC01428 | Chr20:7151968 | common intron variant, NR_110609.1:n.298 + 12022C > T |
rs1884302 | n/a | Chr20: 7106289 | common genomic variant, NC_000020.10:g.7106289T > C |
rs4140470 | LINC01428 | Chr20:14371737 | common intron variant, NR_110609.1:n.164 + 14997T > C |
rs6054814 | LINC01428 | Chr20:7198501 | common intron variant, NR_110609.1:n.164 + 23975C > A |
rs6107929 | n/a | Chr20:7121672 | common intron variant, NC_000020.10:g.7121672A > G |
rs6140226 | LINC01428 | Chr20: 7226483 | common intron variant, NR_110609.1:n.117-3960G > A |