Skip to main content
. 2016 Jan 26;31(2):196–201. doi: 10.3346/jkms.2016.31.2.196

Table 3. Genetic features of 17 patients identified to have recurrent fever and multi-system inflammation without infectious or autoimmune evidence.

Genes SNP ID Coding annotations Alleles (reference > risk) Genotyping method Genotype results*
MEFV rs28940579 V726A A>G TaqMan® assay A/A
rs28940578 M694I G>A TaqMan® assay G/G
rs28940580 M680I G > A/C TaqMan® assay G/G
rs3743930 E148Q G>C TaqMan® assay Failed
rs61752717 M694V A>G RFLP A/A
TNFRSF1A rs4149584 R92Q G>A TaqMan® assay G/G
rs34751757 T90N C>A TaqMan® assay C/C
rs4149637 P46L C>T TaqMan® assay C/C
NOD2/CARD15 rs2066844 R702W C>T TaqMan® assay C/C
rs2066845 G908R G>C TaqMan® assay G/G
rs2066847 3020InsC -/C RFLP -/-

*No polymorphism in any of the variants was found.