Table 3 Phenotypes and genotypes of individuals carrying potentially genetic deleterious variants in autoimmunity, absent from controls
From: Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren’s syndrome
Gene | Variant | Individual ID and phenotype | Genotype |
|---|---|---|---|
MACF1 | 1:39,854,131 | 9 (SS) | (AC) |
MACF1/KIAA0754 | 1:39,879,412 | 9 (SS) | (AG) |
DUSP12 | 1:161,719,833 | 5 (AITD, RA, SS) | (GG) |
4 (PSO, RA, SS) | (CG) | ||
MICAL1 | 6:109,767,639 | 6 (AITD, RA, SS) | (CC) |
ICA1 | 7:8,196,577 | 12 (SS) | (TT) |
CELA1 | 12:51,740,405 | 6 (AITD, RA, SS) | (GG) |
LRP1/STAT6 | 12:57,522,754 | 1 (AITD, SS, VIT) | (AC) |
3 (AITD, RA, SS) | (CC) | ||
GRIN3B | 19:1,009,552 | 4 (PSO, RA, SS) | (GG) |
BABAM1/ANKLE1 | 19:17,392,775 | 11 (SS) | (TT) |
TMEM161A | 19:19,245,591 | 11 (SS) | (CC) |
2 (SS, SSc, AIH) | (AC) | ||
FKRP | 19:47,259,734 | 11 (SS) | (CC) |
7 (SLE, SS, AITD) | (CC) |