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. Author manuscript; available in PMC: 2019 Jul 24.
Published in final edited form as: Pharmacogenomics J. 2018 Nov 16;19(4):375–389. doi: 10.1038/s41397-018-0063-z

Table 6: Genetic Variants in the CYB5R2 Gene Associated with Dose Normalized Tacrolimus Troughs in African American Kidney Transplant Recipients.

The table indicates the location of the variants in the CYB5R2 gene, consequences, the codon changes, rs numbers and predicted protein effect from SIFT and PolyPhen2 analysis (with prediction scores), chromosome location of the variants based on GRCH37 assembly, the variant allele used to calculate the consequence, the consequence effect of the variant on the Ensembl transcripts, the Exon number out of the total number, Existing known variant rs numbers. Also shown are the allele frequencies from 1000 Genomes project as given by VEP software. AF = global, AFR = African population, AMR = American population, EUR = European population, EAS = East Asian population, SAS = South Asian population, AA = Allele Frequency from in African American population from Lung and Blood Institute-Exome Sequencing Project (NHLBI-ESP), EA = Allele Frequency in European American population from NHLBI-ESP.

Location Allele Consequence Exon Existing_variation SIFT PolyPhen2 Allele Frequencies
AF AFR AMR EAS EUR SAS AA EA
11:7687146-7687146 A missense_variant 9/9 rs67173996 deleterious(0.03) Benign (0.019) 0.161 0.035 0.052 0.504 0.128 0.089 - -
11:7687715-7687715 C missense_variant 8/9 rs12801394 deleterious(0.03) Benign (0) - 0.853 0.679 0.817 0.763 0.766 0.852 0.771
11:7689029-7689029 C missense_variant 7/9 rs61733057 deleterious(0) probably_damaging (0.947) 0.050 0.106 0.043 0.002 0.060 0.016 0.119 0.048
11:7690873-7690873 T missense_variant 4/9 rs61733056 Tolerated (0.08) possibly_ damaging (0.875) 0.075 0.213 0.035 0.014 0.004 0.053 0.192 0.003