Table 2 Location and frequency of the observed SNP
Position | Location | SNP | Exchange in amino acid? | Population | Number of subjects carrying the SNP | Number of analyzed subjects | Allelic frequency (%) | Reference |
|---|---|---|---|---|---|---|---|---|
-60 | 5'-UTR | C/T | Systemic sclerosis | 1 | 100 | 0.50 | this work | |
SLE | 0 | 20 | 0.00 | |||||
Sjogren's syndrome | 0 | 40 | 0.00 | |||||
Controls | 0 | 40 | 0.00 | |||||
+6,476 | exon 2 | A/G | methionine to valine | Systemic sclerosis | 4 | 100 | 2.00 | this work |
SLE | 0 | 20 | 0.00 | |||||
Sjogren's syndrome | 1 | 40 | 1.25 | |||||
Controls | 2 | 40 | 2.50 | |||||
+6,555 | intron 2 | C/T | Systemic sclerosis | 6 | 100 | 3.00 | this work | |
SLE | 2 | 20 | 5.00 | |||||
Sjogren's syndrome | 3 | 40 | 3.75 | |||||
Controls | 4 | 40 | 5.00 | |||||
+6,560 | intron 2 | C/T | Systemic sclerosis | 4 | 100 | 2.00 | rs3136689 | |
SLE | 0 | 20 | 0.00 | (HapMap) | ||||
Sjogren's syndrome | 0 | 40 | 0.00 | |||||
Controls | 2 | 40 | 2.50 | |||||
+10,440 | exon 3 | A/G | no exchange | Systemic sclerosis | 2 | 100 | 1.00 | rs2229095 |
SLE | 0 | 20 | 0.00 | (HapMap) | ||||
Sjogren's syndrome | 1 | 40 | 1.25 | |||||
Controls | 0 | 40 | 0.00 | |||||
+11,475 | 3'-UTR | C/A | Systemic sclerosis | 1 | 100 | 0.50 | this work | |
SLE | 0 | 20 | 0.00 | |||||
Sjogren's syndrome | 0 | 40 | 0.00 | |||||
Controls | 0 | 40 | 0.00 |