Table 4.
Variants identified in non-affected subjects.
| Gene name | SNP ID | wild type allele | AWK (family 3) | AWL (family 185) | BIR (family 237) | BIP (family 114) |
|---|---|---|---|---|---|---|
| Recessive Inheritance Model | ||||||
| AAK1 | rs66931661 | CTGT | C/C | C/C | C/C | |
| ABCB11 | rs2287622 | A | G/G | G/G | G/G | |
| ALG1L | rs3828357 | T | C/C | C/C | C/C | |
| C1orf227 | rs10864004 | A | G/G | G/G | G/G | |
| CD5 | rs2229177 | C | T/T | T/T | T/T | |
| CPB2 | rs1926447 | A | G/G | G/G | G/G | |
| CSNK1A1L | rs9576175 | G | T/T | T/T | T/T | |
| HLA-C | rs79636386 | A | C/C | C/C | C/C | |
| HLA-DQB1 | rs1049130 | A | G/G | G/G | G/G | |
| KRTAP19-4 | rs2298437 | T | C/C | C/C | C/C | |
| LCE5A | rs2105117 | G | A/A | A/A | A/A | |
| MMRN2 | rs3750823 | C | T/T | T/T | T/T | |
| NFATC4 | rs7149586 | T | C/C | C/C | C/C | |
| PM20D1 | rs1361754 | A | G/G | G/G | G/G | |
| RTP1 | rs6764714 | C | G/G | G/G | G/G | |
| SIM2 | rs2073601 | C | A/A | A/A | A/A | |
| TINAG | rs1058768 | T | C/C | C/C | C/C | |
| TMED5 | rs1060622 | G | A/A | A/A | A/A | |
| TMEM173 | rs1131769 | T | C/C | C/C | C/C | |
| TPTE | novel* | G | T/T | T/T | T/T | |
| ZC3H13 | rs9534264 | T | A/A | A/A | A/A | |
| Dominant Inheritance Model | ||||||
| ACBD3 | rs2306120 | T | T/G | T/G | T/G | |
| ALPK2 | rs9944810 | C | C/A | C/A | C/A | |
| ANKK1 | rs1800497 | G | G/A | G/A | G/A | |
| ART4 | rs11276 | C | C/T | C/T | C/T | |
| BBS12 | rs309370 | G | G/A | G/A | G/A | |
| BBS12 | rs13135778 | G | G/A | G/A | G/A | |
| C12orf60 | rs139293175 | CTA | CTA/C | CTA/C | CTA/C | |
| C12orf60 | rs7307438 | T | T/A | T/A | T/A | |
| CCDC144NL | rs79930314 | G | G/T | G/T | G/T | |
| CCDC144NL | rs79843086 | G | G/T | G/T | G/T | |
| CCHCR1 | rs130068 | G | G/A | G/A | G/A | |
| CD200 | rs2272022 | C | C/A | C/A | C/A | |
| CWF19L2 | rs659040 | G | G/A | G/A | G/A | |
| CYP21A2 | rs397515530 | G | A/A | A/A | G/A | |
| DHRS4 | rs17099455 | G | G/A | G/A | G/A | |
| DYNC2LI1 | rs9309107 | T | T/A | T/A | T/A | |
| EDN1 | rs5370 | G | G/T | T/T | G/T | |
| EFS | rs2231798 | T | T/C | T/C | T/C | |
| EPCAM | rs1126497 | T | T/C | T/C | T/C | |
| FHAD1 | rs4661330 | A | A/G | A/G | A/G | |
| HINFP | rs100803 | C | C/T | C/T | C/T | |
| HLA-C | rs79636386 | A | A/C | C/C | C/C | C/C |
| HLA-DQB1 | rs1130398 | C | C/T | C/T | C/T | |
| HLA-DQB1 | rs1063323 | C | C/T | C/T | C/T | |
| HLA-DRB1 | rs71547382 | C | C/T | C/T | C/T | |
| KIF20B | rs1886997 | A | A/G | A/G | A/G | |
| KIF20B | rs144593231 | C | C/CTAAAAG | C/CTAAAAG | C/CTAAAAG | |
| KLHL33 | rs1953225 | T | T/C | T/C | T/C | |
| KRT40 | rs9908304 | G | G/A | G/A | G/A | |
| LRRC6 | rs2293979 | G | A/A | G/A | G/A | |
| MCCD1 | rs2259435 | G | G/A | G/A | G/A | |
| MICB | rs1065075 (EVS) | A | A/G | A/G | A/G | |
| MICB | rs1051788 (EVS) | G | G/A | G/A | G/A | |
| MMP27 | rs1276286 | T | T/A | T/A | A/A | |
| NOS2 | rs2297518 | G | G/A | G/A | G/A | |
| NPAS2 | rs9223 | C | C/T | C/T | C/T | C/T |
| NPY4R | rs79871698 | G | G/A | G/A | G/A | |
| NRG3 | rs1884282 | C | C/G | C/G | C/G | |
| NSUN4 | rs3737744 | A | A/G | A/G | A/G | |
| NUMBL | rs749669311 | T | TTGCTGTTGCTGCTGCTGC/T | TTGCTGTTGCTGCTGCTGC/T | TTGCTGTTGCTGCTGCTGC/T | TTGCTGTTGCTGCTGCTGC/T |
| OR10G2 | rs41314525 | C | C/A | C/A | C/A | |
| OR13C2 | rs10156474 | T | T/C | T/C | T/C | |
| OR13C2 | rs10991326 | A | A/T | A/T | A/T | |
| OR13C5 | rs4117966 | C | C/T | C/T | C/T | |
| OR13C5 | rs1523678 | T | T/C | T/C | T/C | |
| OR13C5 | rs1851725 | A | A/G | A/G | A/G | |
| OR13C5 | rs6479260 | G | G/C | G/C | G/C | |
| OR13C5 | rs11314210 | GT | GT/G | GT/G | GT/G | |
| OR13C9 | rs993658 | T | T/A | T/A | T/A | |
| OR2T2 | rs67700848 | C | C/T | C/T | C/T | |
| OR4E2 | rs61732411 | C | C/T | C/T | C/T | C/T |
| PRDM1 | rs811925 | C | C/G | C/G | C/G | |
| PSMD9 | rs14259 | A | A/G | A/G | A/G | |
| RNLS | rs2296545 | C | C/G | C/G | C/G | |
| SPATA16 | rs1515441 | C | C/T | C/T | C/T | |
| SPATA16 | rs16846616 | C | C/T | C/T | C/T | |
| SVEP1 | rs3739451 | A | A/T | A/T | A/T | |
| TMEM132C | rs12424159 | G | G/A | G/A | G/A | |
| TMEM71 | rs1895807 | A | A/G | A/G | A/G | |
| WDR66 | rs17852561 | C | C/T | C/T | C/T | |
| WWC2 | rs11734376 | G | G/T | G/T | G/T | |
| ZNF626 | rs73002662 | T | T/G | T/G | T/G | |
Definition of abbreviations: SNP: single nucleotide polymorphism; EVS = present in Exome Variant Server. Genes linked to immunity are shown in bold and underlined characters. *novel = not present in any public database.
43% of the genes in the recessive inherited model and 24% in the dominant were immune.