Table 1.
# | ID | SNP | Exon | Protein | Functional effect of minor allele [30,31,40] |
---|---|---|---|---|---|
1 | rs35933842 | G151T | 1 | Intron 1 splice site | Loss |
2 | rs17525809 | T253C | 2 | V76A | Partial loss |
3 | rs28360447 | G474A | 5 | G150R | Loss |
4 | rs208294 | C489T | 5 | H155Y | Gain |
5 | rs7958311 | G835A | 8 | R270H | Partial loss |
6 | rs7958316 | G853A | 8 | R276H | Loss |
7 | rs28360457 | G946A | 9 | R307Q | Loss |
8 | rs1718119 | G1068A | 11 | A348T | Gain |
9 | rs2230911 | C1096G | 11 | T357S | Partial loss |
10 | rs2230912 | A1405G | 13 | Q460R | Gaina |
11 | rs3751143 | A1513C | 13 | E496A | Loss |
12 | rs1653624 | T1729A | 13 | I568N | Loss |
aThe minor allele 1405G is a tag for haplotype 4 (Figure 1). pSS, primary Sjögren's syndrome; SNP, single nucleotide polymorphism.