Table 1.
Description and functional consequences of SNPs selected for validation from exome sequencing
| SNP | Location (hg19) | Gene | Official full name | Variant effect |
|---|---|---|---|---|
| rs17844444 (G/A) | chr5:140,532,165 | PCDHB6 | Protocadherin Beta 6 | Missense variant |
| rs17082236 (C/A) | chr6:152,470,752 | SYNE1 | Spectrin repeat containing nuclear envelope protein 1 | Missense variant |
| rs10279499 (C/A) | chr7:92,733,766 | SAMD9 | Sterile alpha motif domain containing 9 | Missense varianta |
| rs10488532 (C/T) | chr7:92,764,489 | SAMD9L | Sterile alpha motif domain containing 9 like | Missense variant |
| rs2374639 (T/C) | chr7:92,985,252 | VPS50 | VPS50, EARP/GARPII complex subunit | Synonymous variant |
| rs17552167 (C/T) | chr7:148,529,922 | EZH2 | Enhancer of zeste 2 polycomb repressive complex 2 subunit | Intronic variant |
| rs28469012 (A/T) | chr10:125,622,263 | CPXM2 | Carboxypeptidase X, M14 family, member 2 | Intronic variant |
| rs10894768 (C/G) | chr11:133,815,981 | IGSF9B | Immunoglobulin superfamily member 9B | Synonymous variant |
| rs60252902 (G/A) | chr12:125,451,767 | DHX37 | DEAH-box helicase 37 | Splice region variantb |
| rs3742130 (G/A) | chr13:99,907,341 | GPR18 | G protein-coupled receptor 18 | Synonymous variant |
| rs9919887 (A/G) | chr14:95,911,008 | SYNE3 | Spectrin repeat containing nuclear envelope family member 3 | Intronic variant |
| rs2230434 (C/T) | chr16:30,518,096 | ITGAL | Integrin subunit alpha L | Synonymous variant |
| rs2070896 (T/C) | chr16:31,384,554 | ITGAX | Integrin subunit alpha X | Intronic variant |
| rs35299026 (G/A) | chr19:49,318,380 | HSD17B14 | Hydroxysteroid 17-beta dehydrogenase 14 | Missense varianta |
| rs10423927 (A/G) | chr19: 56,235,537 | NLRP9 | NLR family pyrin domain containing 9 | Intronic variant |
| rs2254562 (T/C) | chr21:34,059,352 | SYNJ1 | Synaptojanin 1 | Missense varianta |
aVariants reported as possible deleterious mutations (based on SIFT and PolyPhen-2 algorithms)
bBy definition, a splice region variant is a sequence variant in which a change has occurred within the region of the splice site, either within 1–3 bases of the exon or 3–8 bases of the intron [30]