Table 3.
Variants identified in affected subjects.
| Gene name | SNP ID | wild type allele | AWK (family 3) | AWL (family 185) | BIR (family 237) | BIP (family 114) |
|---|---|---|---|---|---|---|
| Recessive Inheritance Model | ||||||
| AKNA | rs3748176 | G | A/A | A/A | A/A | |
| DNTTIP2 | rs3747965 | C | A/A | A/A | A/A | |
| FRMD1 | rs1548349 | G | C/C | C/C | C/C | |
| HJURP | rs3806589 | T | C/C | C/C | ||
| HJURP | rs3732215 | G | C/C | C/C | C/C | |
| IFIH1 | rs3747517 | T | C/C | C/C | C/C | |
| KLHL3 | rs2905608 | T | C/C | C/C | C/C | |
| KNG1 | rs710446 | T | C/C | C/C | C/C | |
| MIB2 | rs7418389 | T | C/C | C/C | C/C | |
| MS4A14 | rs3217518 | ATT | A/A | A/A | A/A | |
| RTP2 | rs11707167 | T | C/C | C/C | C/C | |
| SLC22A16 | rs714368 | T | C/C | C/C | C/C | |
| THSD7B | rs10206850 | A | G/G | G/G | G/G | |
| TMPRSS5 | rs7110736 | A | G/G | G/G | G/G | |
| TSPAN8 | rs3763978 | C | G/G | G/G | G/G | |
| Dominant Inheritance Model | ||||||
| ACBD3 | novel* | CTTTTTTTT | CTTTTTTT | CTTTTTTT | CTTTTTTT | |
| ALAD | rs1800435 | C | C/G | C/G | C/G | |
| APEX1 | rs1130409 | T | T/G | T/G | T/G | |
| EGFL8 | rs3096697 | G | G/A | G/A | G/A | |
| HSD17B4 | rs25640 | G | G/A | G/A | G/A | |
| IQCG | rs9880989 | G | G/T | G/T | G/T | |
| KLC2 | rs2276036 | C | C/T | C/T | C/T | |
| L3MBTL4 | rs3737353 | C | C/T | C/T | C/T | |
| LIPK | rs1214464 | G | G/C | G/C | G/C | |
| LRCH4 | novel* | GTC | GC | GC | GC | |
| MKI67 | rs8473 | T | T/C | T/C | T/C | |
| MKI67 | rs11106 | G | G/C | G/C | G/C | |
| MS4A12 | rs2298553 | C | C/T | C/T | C/T | |
| PCDH12 | rs164515 | C | C/T | C/T | C/T | |
| PIK3AP1 | rs17112076 | C | C/T | C/T | C/T | |
| PPT2 | rs3096696 (EVS) | C | C/A | C/A | C/A | |
| PRDM16 | rs2493292 | C | C/T | C/T | T/T | |
| TBC1D26 | rs11650318 | C | C/T | C/T | C/T | |
| TBC1D26 | rs17855672 | G | G/A | G/A | G/A | |
| TRIM16 | rs1060903 | C | C/A | C/A | C/A | |
| TSPYL1 | rs3828743 | G | G/A | G/A | G/A | |
| VSTM4 | rs13088 | A | A/G | A/G | A/G | |
| ZNF286A | rs3760299 | T | T/C | T/C | T/C | |
Definition of abbreviations: SNP: single nucleotide polymorphism; EVS = present in Exome Variant Server. *novel = not present in any public database. Genes linked to immunity are shown in bold and underlined characters.
57% of the genes in the recessive inherited model and 29% in the dominant were immune.