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. 2021 Sep 14;12:713567. doi: 10.3389/fphar.2021.713567

TABLE 1.

SLCO2B1 SNVs studied and their allele frequencies.

Designation Nucleotide change Protein change CADD scorea REVEL scoreb MetaLR scoreb Minor allele frequencyc
Global Caucasian African East asian
rs60113013 c.76_84del p.Glu26_Thr28del 14.9 NA NA 0.0293 0.0187 0.0032 0.1021
rs142693902 c.332G>A p.Arg111Gln 27.8 0.632 0.436 0.0014 0.0007 0.0001 0.0000
rs35199625 c.601G>A p.Val201Met 22.8 0.149 0.01 0.0198 0.0124 0.0022 0.0577
rs78825186 c.917G>A p.Arg306His 9.4 0.111 0.141 0.0146 0.0226 0.0036 0.0001
rs12422149 c.935G>A p.Arg312Gln 7.7 0.026 0 0.1759 0.1036 0.0910 0.3261
rs2306168 c.1457C>T p.Ser486Phe 12.0 0.022 0 0.0826 0.0244 0.3365 0.2250
a

Combined Annotation Dependent Depletion (CADD) score was obtained from https://cadd.gs.washington.edu.

b

Rare Exome Variant Ensemble Learner (REVEL) and MetaLR score was obtained from https://m.ensembl.org.

c

Allele frequencies sourced from gnomAD database, https://gnomad.broadinstitute.org.

NA, not applicable.