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. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180

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