Genomic ID | Coding | Amino Acid Location/Change | Exon/Intron | Reference SNP cluster ID | Variant Allele Present in | Frequency (%) | Fold Increase in Efavirenz Plasma Level |
---|---|---|---|---|---|---|---|
Confirmed | |||||||
g.15631 | c.516G>T | Q172H | Exon 4 | rs3745274 | *9, *6a, 7b | Overall: 32 | 2–4c,d |
African: 37 | |||||||
American: 37 | |||||||
East Asian: 22 | |||||||
European:24 | |||||||
South Asian: 38 | |||||||
g.21011 | c.983T>C | I328T | Exon 7 | rs28399499 | *18, *16e | Overall: 2 | 2–11c,f |
African: 8 | |||||||
American: 1 | |||||||
East Asian: 0 | |||||||
European: 0 | |||||||
South Asian: 0 | |||||||
g.15582 | c.485-18C>T | Intron 3 | rs4803419 | *1C, *13, *15 | Overall: 29 | 2g | |
African: 8 | |||||||
American: 35 | |||||||
East Asian: 44 | |||||||
European: 32 | |||||||
South Asian: 34 | |||||||
g.21388 | c.1172T>A | I391N | Exon 8 | rs35979566 | *15 | Overall: <1 | 3–5h |
African: <1 | |||||||
American: <1 | |||||||
East Asian: 0 | |||||||
European: <1 | |||||||
South Asian: 0 | |||||||
Predicted | |||||||
g.136 | c.136A>G | M46V | Exon 1 | rs35303484 | *12 | Overall: <1 | |
African: <1 | |||||||
American: 0 | |||||||
East Asian: 0 | |||||||
European: <1 | |||||||
South Asian: <1 | |||||||
g.12820 | c.296G>A | G99E | Exon 2 | rs36060847 | *11 | Overall: <1 | |
African: 0 | |||||||
American: <1 | |||||||
East Asian: 0 | |||||||
European: 0 | |||||||
South Asian: 0 | |||||||
g.13072 | c.415G>A | K139E | Exon 3 | rs12721655 | *8 | Overall: <1 | |
African: <1 | |||||||
American: 0 | |||||||
East Asian: 0 | |||||||
European: <1 | |||||||
South Asian: <1 |
↵a The *6 allele also contains the c.A785G SNP, which by itself is known as the *4 allele.
↵b The *7 allele also contains c.A785G and the c.C1459T SNP.
↵c Uttayamakul et al. (2010).
↵d Wyen et al. (2008).
↵e The *16 allele also contains the c.A785G SNP.
↵f Holzinger et al. (2012).
↵g Bertrand et al. (2014).
↵h van Luin et al. (2009a).