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. 2021 Jun 12;19:91. doi: 10.1186/s12969-021-00563-9

Table 4.

GLA variants observed in JIA Patients cohort and its frequency in Normal population according to Vep Ensembl

Variants Description GLA Location Vep Ensembl Freq.
c.-10C > T rs2071225 5’UTR of exon 1 0.09546
c.-12G > A rs3027585 5’UTR of exon 1 0.06110
c.370-81_-77del rs5903184 2 0.1571
c.548-125C > G rs2071396 3 0.1372
c.548-162A > T Never described 3 Never described
c.640-16A > G rs2071397 4 0.1447
c.1000-22C > T rs2071228 6 0.2542