Frequency of single-nucleotide polymorphisms (SNP) in the CH3 exon of IgG4.
| Data from dbSNP | Patients with IgG4-RD, n = 25 | ||||
|---|---|---|---|---|---|
| SNP | Source | Population Details | REFSNP Alleles | MAF | MAF |
| rs56133431 | 1000 genomes | 1094 worldwide individuals from 1000 genomes project | C/T | C = 0.253 | C = 0.36 G = 0.08 |
| rs8010914 | 1000 genomes | 1094 worldwide individuals from 1000 genomes project | G/T | G = 0.122 | G = 0.04 |
| rs17841088 | CEPH | 92 individuals from CEPH pedigrees [UTAH (93%), French (4%), and Venezuelan (3%)] | C/T | T = 0.210 | T = 0.00* |
| rs201617483 | CS Agilent | 662 participants of European descent | C/G/T | G = 0.028 | G = 0.04 |
| rs77498506 | CS Agilent | 662 participants of European descent | C/T | T = 0.011 | T = 0.00* |
↵* 100% of the IgG4-RD subjects in this study were of the C/C genotype. MAF: minor allele frequency; dbSNP: single-nucleotide polymorphism database; REFSNP: Reference SNP; IgG4-RD: immunoglobulin G4-related disease.