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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)
  1. The chromosome and nucleotide position of the variant harboured within the candidate gene is given with the corresponding individuals, their phenotypes and the genotypes. See Table 1 for abbreviations.