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Table 1 Description and functional consequences of SNPs selected for validation from exome sequencing

From: Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

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
  1. aVariants reported as possible deleterious mutations (based on SIFT and PolyPhen-2 algorithms)
  2. 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]