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.
| Gene | Genomic position | Reference/ Alternative | cDNA change | Amino acid change | dbSNP ID rs/ss | MS patients n (MAF) | Controls n (MAF) | ExAC MAF | CADD |
|---|---|---|---|---|---|---|---|---|---|
| PLAU | 10:75672744 | A/G | c.256A>G | p.T86A | rs753886853 | 1 (0.02%) | 0 | 0.004% | 7.1 |
| 10:75673124 | C/T | c.445C>T | p.H149Y | rs117135013 | 7 (0.14%) | 1 (0.05%) | 0.06% | 6.7 | |
| 10:75673131 | G/T | c.452G>T | p.C151F | ss3646580234 | 1 (0.02%) | 0 | n/a | 24.7 | |
| MASP1 | 3:186954283 | C/T | c.1376G>A | p.G459D | ss3646580232 | 1 (0.02%) | 0 | n/a | 26.2 |
| 3:186954275 | G/T | c.1384C>A | p.P462T | ss2137543902 | 1 (0.02%) | 0 | n/a | 27.1 | |
| C2 | 6:31901495 | C/T | c.551C>T | p.T184M | rs138034438 | 1 (0.02%) | 0 | 0.008% | 22.2 |
| NLRP12 | 19:54313859 | G/A | c.1054C>T | p.R352C | rs199881207 | 1 (0.02%) | 1 (0.05%) | 0.035% | 23.3 |
| 19:54313489 | A/T | c.1424T>A | p.L475Q | ss3646580242 | 1 (0.02%) | 0 | n/a | 23.6 | |
| 19:54301509 | A/T | c.2915T>A | p.L972H | ss3646580241 | 1 (0.02%) | 0 | n/a | 24.9 | |
| UBR2 | 6:42656072 | G/A | c.4972G>A | p.A1658T | ss3646580233 | 1 (0.02%) | 0 | n/a | 32.0 |
| CTNNA3 | 10:67680222 | C/A | c.2554G>T | p.A852S | rs778712224 | 1 (0.02%) | 0 | 0.001% | 26.2 |
| NFATC2 | 20:50049290 | G/A | c.2036C>T | p.P679L | ss3646580244 | 1 (0.02%) | 0 | n/a | 27.1 |
| RNF213 | 17:78319114 | A/G | c.6979A>G | p.N2327D | rs138044665 | 13 (0.26%) | 0 | 0.10% | 4.3 |
| 17:78319472 | T/C | c.7337T>C | p.I2446T | ss3646580239 | 1 (0.02%) | 0 | n/a | 16.5 | |
| 17:78341843 | C/T | c.12055C>T | p.R4019C | rs139265462 | 5 (0.10%) | 0 | 0.05% | 15.4 | |
| NCOA3 | 20:46264406 | C/T | c.1453C>T | p.R485C | rs138250384 | 3 (0.06%) | 0 | 0.02% | 26.8 |
| KCNG4 | 16:84256289 | C/T | c.1094G>A | p.R365H | rs553198108 | 1 (0.02%) | 0 | 0.002% | 29.0 |
| 16:84255962 | C/T | c.1421G>A | p.R474H | rs761759691 | 1 (0.02%) | 0 | 0.008% | 24.0 | |
| SLC24A1 | 15:65916494 | C/T | c.76C>T | p.L26F | rs755508009 | 3 (0.06%) | 0 | 0.007% | 15.9 |
| SLC8B1 | 12:113759030 | T/C | c.280A>G | p.S94G | rs754992099 | 1 (0.02%) | 0 | 0.001% | 0.005 |
| 12:113737645 | G/C | c.1692C>G | p.Y564X | ss3646580235 | 1 (0.02%) | 0 | n/a | 39.0 |