Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease
Table 1
Genetic variants of interest or considered to co-segregate with MS in multi-incident families.
Genomic coordinates from NCBI Build 37.1 (hg19) and dbSNP refSNP (rs) identifiers from build 150 or submitted SNP (ss) numbers are provided. Sample counts and/or minor allele frequency (MAF) for MS patients, healthy controls and the Exome Aggregation Consortium (ExAC) database are given. Estimated effect on protein function was assessed with the Combined Annotation Dependent Depletion (CADD) phred-scale scores v1.4. n/a, not available.