Table 2. Rare genetic variants of SIAE.§§ .
| Coding change | SequenceVariant | Surolia et al. (4) Frequency (%) n = 1571 | Hirschfield et al. (5)Frequency (%) n = 381 | EVS Frequency (%) n = 4299 | ||
| 1) | A3G | c.8C>G | 0.0636 | 0.5452 | *** | |
| 2) | R27H | c.80G>A | 0.0454 | *** | ||
| 3) | Y31C | c.92A>G | 0.0909 | *** | ||
| 4) | N33S | c.98A>G | 0.0636 | |||
| 5) | A45S | c.133G>T | 0.0465 | ** | ||
| 6) | W48X | c.143G>A | 0.0636 | |||
| 7) | R62H | c.185G>A | 0.0233 | ** | ||
| 8) | T81M | c.242C>T | 0.0454 | *** | ||
| 9) | P91R | c.272C>G | 0.0154 | ** | ||
| 10) | E96K | c.286G>A | 0.0909 | *** | ||
| 11) | Q101K | c.301C>A | 0.0909 | *** | ||
| 12) | N107K | c.321C>G | 0.0930 | ** | ||
| 13) | A147V | c.440C>T | 0.0465 | ** | ||
| 14) | S158F | c.286C>T | 0.0454 | *** | ||
| 15) | Q161K | c.481C>A | 0.0636 | |||
| 16) | A171V | c.512C>T | 0.1363 | *** | ||
| 17) | C196F | c.587G>T | 0.191 | 0.0462 | * | |
| 18) | F199C | c.596T>G | 0.7874 | |||
| 19) | R201Hnf | c.602G>A | ||||
| 20) | R201C | c.601C>T | 0.2726 | *** | ||
| 21) | T206I | c.617C>T | 0.0465 | ** | ||
| 22) | P210L | c.629C>T | 0.0154 | ** | ||
| 23) | G212R | c.634G>A | 0.0636 | 0.0698 | ** | |
| 24) | S228C | c.683C>G | 0.0454 | *** | ||
| 25) | R230W | c.688C>T | 0.0636 | |||
| 26) | D246N | c.736G>A | 0.1817 | *** | ||
| 27) | P251L | c.752C>T | 0.0233 | ** | ||
| 28) | S255A | c.763T>G | 0.0233 | ** | ||
| 29) | C266G | c.796T>G | 0.0636 | |||
| 30) | Y276H | c.826T>C | 0.0233 | ** | ||
| 31) | T286M | c.857C>T | 0.0154 | * | ||
| 32) | L296F | c.886C>T | 0.0233 | ** | ||
| 33) | Q309P | c.926A>C | 0.0636 | |||
| 34) | T312M | c.935C>T | 0.1273 | 0.2625 | 0.0154 | * |
| 35) | R314H | c.941G>A | 0.0636 | 0.0454 | *** | |
| 36) | L323F | c.969A>C | 0.1363 | *** | ||
| 37) | S325Pnf | c.973T>C | ||||
| 38) | D334N | c.1000G>A | 0.0454 | *** | ||
| 39) | R340H | c.1019G>A | 0.0909 | *** | ||
| 40) | W341Xnf | c.1022G>A | ||||
| 41) | G348S | c.1042G>A | 0.0454 | *** | ||
| 42) | Y349C | c.1046A>G | 0.0636 | |||
| 43) | P356L | c.1067C>T | 0.2625 | |||
| 44) | N357S | c.1070A>G | 0.0233 | ** | ||
| 45) | L366V | c.1096C>G | 0.0233 | ** | ||
| 46) | R369K | c.1106G>A | 0.0233 | ** | ||
| 47) | D370H | c.1108G>C | 0.0233 | ** | ||
| 48) | S371L | c.1112C>T | 0.0233 | ** | ||
| 49) | Q382R | c.1145A>G | 0.2625 | |||
| 50) | A385T | c.1153G>A | 0.0909 | *** | ||
| 51) | R387W | c.1159C>T | 0.0233 | ** | ||
| 52) | R393C | c.1177C>T | 0.0909 | *** | ||
| 53) | R393H | c.1178G>A | 0.0636 | |||
| 54) | A394T | c.1180G>A | 0.0233 | ** | ||
| 55) | F404S | c.1211T>C | 0.2546 | 0.5249 | 0.0698 | ** |
| 56) | G419Enf | c.1256G>A | ||||
| 57) | Q428Lnf | c.1283A>T | ||||
| 58) | K434T | c.1301A>C | 0.0233 | ** | ||
| 59) | C443Rnf | c.1340A>G | ||||
| 60) | H447R | c.1340A>G | 0.0636 | 0.0454 | *** | |
| 61) | M456T | c.1367T>C | 0.0636 | 0.0454 | *** | |
| 62) | M456I | c.1368G>A | 0.0636 | |||
| 63) | V459Inf | c.1375G>A | ||||
| 64) | Q462R | c.1385A>G | 0.0636 | 0.0698 | ** | |
| 65) | H472Q | c.1416T>A | 1.3176 | *** | ||
| 66) | R479C | c.1435C>T | 0.0636 | 0.0233 | ** | |
| 67) | G514A | c.1541G>C | 0.0233 | ** | ||
The subjects from Surolia et al. (4) and Hirschfield et al. (5) include controls and autoimmune subjects of European ancestry. EVS (Exome variant server) data comprises unannotated American subjects (disease status is unknown) of European and African ancestry and is current as of June 20th 2012. Rare variants reported in both African-Americans and European-Americans are marked with a single asterisk (*n = 6500). Rare variants seen only in European-Americans or only in African-Americans are marked with double (**n = 4299) and triple asterisks (***n = 2201) respectively.
These variants were found in dbSNP and/or 1000 genomes project but frequency data is not available. The dbSNP data is not ethnically stratified and was derived from the 1000 genomes project.