Table 1

Single-marker FBAT analysis of variants in the PTPN22 gene

ExonrsIDcDNA changeAmino acid change221211MAFFamily (n)Z scoreP value
11ss538819444c.878_881delAGATp.Gln293Argfs*4514,210500.0001820.4470.65
13rs371865329c.1040delAp.Ile348Serfs*1414,184600.00008811.0000.32
14rs2476601c.1858C>Tp.Arg620Trp10,6003,3033410.121,02312.4898.62E-36
18rs74163663c.2242A>Gp.Arg748Gly14,1542200.0005372.1910.028
18rs56048322c.2250G>Cp.Lys750Asn13,94328400.0087933.1900.0014
  • cDNA and amino acid changes are based on NM_015967.5 and NP_057051.3, respectively. Z scores and P values are calculated for the minor alleles. 22, homozygous for the major allele; 12, heterozygous; 11, homozygous for the minor allele; n, number of informative families.