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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: Pharmacogenet Genomics. 2015 Jul;25(7):343–353. doi: 10.1097/FPC.0000000000000143

Table 2.

Prevalence of CYP2C9, CYP4F2, VKORC1, and GGCX variant alleles in the SCF and CANHR AI/AN cohorts of Alaska, as determined using the Fluidigm genotyping platform. The SCF sample participants are presented in total (column 6) and divided into regional subgroups (columns 7-13). Reference allele (Ref) obtained from dbSNP1. Reported frequency is of the variant allele (Var) listed. Frequencies are reported in percentages, with 95% confidence intervals for the true population allele frequency in parentheses.

CYP2C9
Allele rs number Ref Var CANHR (n=350) SCF (n=359) Interior (n=37) Northern (n=85) South eastern (n=42) South western (n=60) Western (n=49) Multiple (n=56) Lower 48 (n=30)
*13
L90P 		72558187 T C 0.0 0.0 0.0 0.0 1.2
(0 - 3.5)		 0.0 0.0 0.0 0.0
*14
R125H 		72558189 G A 0.0 0.0 0.0 0.0 1.2
(0 - 3.5)		 0.0 0.0 0.0 0.0
*2
R144C 		1799853 C T 0.3
(0 - 0.7)		 5.2
(3.6 - 6.8)		 5.4
(0.3 - 10.5)		 4.1
(1.1 - 7.1)		 7.1
(1.6 - 12.6)		 5.8
(1.6 -
10.0)		 6.1
(1.4 - 10.8)		 1.8
(0 - 4.3)		 8.3
(1.3 - 15.3)
*8
R150L 		7900194 G A 0.0 0.1
(0 - 0.3)		 0.0 0.0 0.0 0.0 0.0 0.0 1.7
(0 - 5.0)
*11
R355W 		28371685 C T 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
*3 I359L 1057910 A C 2.1
(1.0 - 3.2)		 3.4
(2.1 - 4.7)		 4.1
(0 - 8.6)		 1.2
(0 - 2.8)		 3.6
(0 - 7.6)		 5.9
(1.7 -
10.1)		 0.0 3.6
(0.1 - 7.1)		 8.3
(1.3 - 15.3)
M1L NA T A 6.3
(4.5 - 8.1)		 1.0
(0.3 - 1.7)		 1.4
(0 - 4.1)		 1.8
(0 - 3.8)		 0.0 0.8
(0 - 2.4)		 1.0
(0 - 3.0)		 0.9
(0 - 2.6)		 0.0
N218I NA A T 3.8
(2.4 - 5.3)		 1.4
(0.5 - 2.3)		 5.4
(0.3 - 10.5)		 2.4
(0.1 - 4.7)		 0.0 0.8
(0 - 2.4)		 1.0
(0 - 3.0)		 0.0 0.0
*29
P279T 		182132442 C A 2.1
(1.0 - 3.2)		 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0
VKORC1
Allele rs number Ref Var CANHR (n=350) SCF (n=359) Interior (n=37) Northern (n=85) South eastern (n=42) South western (n=60) Western (n=49) Multiple (n=56) Lower 48 (n=30)
V29L 28940302 G T 0.0 0.1
(0 - 0.3)		 0.0 0.0 1.2
(0.0 - 3.6)		 0.0 0.0 0.0 0.0
1173 9934438 G A 77.5
(74.4 - 80.7)		 59.7
(56.1 - 63.3)		 52.7
(41.3 - 64.1)		 64.7
(57.5 - 71.9)		 53.6
(42.9 - 64.3)		 55.0
(46.1 - 63.9)		 68.4
(59.2 - 77.6)		 64.3
(55.4 - 73.2)		 50.0
(37.3 - 62.7)
−1639 9923231 C T 77.8
(74.6 - 80.9)		 59.7
(56.1 - 63.3)		 54.1
(42.7 - 65.5)		 64.1
(56.9 - 71.3)		 53.6
(42.9 - 64.3)		 54.2
(45.3 - 63.1)		 68.4
(59.2 - 77.6)		 64.3
(55.4 - 73.2)		 50.0
(37.3 - 62.7)
CYP4F
Allele rs number Ref Var CANHR (n=350) SCF (n=359) Interior (n=37) Northern (n=85) South eastern (n=42) South western (n=60) Western (n=49) Multiple (n=56) Lower 48 (n=30)
4F2 2189784 G A 39.6
(35.9 - 43.2)		 31.0
(27.6 - 34.4)		 29.7
(19.3 - 40.1)		 34.1
(27.0 - 41.2)		 32.1
(22.1 - 42.1)		 28.0
(20.0 - 36.0)		 34.7
(25.3 - 44.1)		 27.7
(19.4 - 36.0)		 30.0
(18.4 - 41.6)
4F2
M519L 		3093200 C A 0.0 2.7
(1.5 - 3.9)		 2.7
(0 - 6.4)		 1.8
(0 - 3.8)		 2.4
(0 - 5.7)		 0.8
(0 - 2.4)		 1.1
(0 - 3.2)		 5.4
(1.2 - 9.6)		 6.7
(0.4 - 13.0)
4F2*3
V433M 		2108622 C T 50.9
(47.2 - 54.7)		 31.5
(28.1 - 34.9)		 31.1
(20.6 - 41.6)		 36.5
(29.3 - 43.7)		 39.3
(28.9 - 49.7)		 22.9
(15.4 - 30.4)		 35.7
(26.2 - 45.2)		 32.1
(23.5 - 40.7)		 16.7
(7.3 - 26.1)
4F2
G185V 		3093153 G T 0.3
(0 - 0.6)		 2.2
(1.1 - 3.3)		 4.1
(0 - 8.6)		 1.8
(0 - 3.8)		 0.0 4.2
(0.6 - 7.8)		 1.0
(0 - 3.0)		 1.8
(0 - 4.3)		 3.3
(0 - 7.8)
4F2*2
W12G 		3093105 T G 3.7
(2.3 - 5.1)		 11.0
(8.7 - 13.3)		 16.2
(7.8 - 24.6)		 10.6
(6.0 - 15.2)		 22.6
(13.7 - 31.5)		 7.5
(2.8 - 12.2)		 6.1
(1.4 - 10.8)		 8.0
(3.0 - 13.0)		 10.0
(2.4 - 17.6)
4F2
spIiceCG 		NA C G 0.7
(0.1 - 1.4)		 1.4
(0.5 - 2.3)		 9.7
(3.0 - 16.4)		 1.2
(0 - 2.8)		 1.2
(0 - 3.5)		 0.0 1.0
(0 - 3.0)		 0.9
(0 - 2.6)		 0.0
4F11
R276C 		8104361 G A 0.3
(0 - 0.7)		 9.1
(7.0 - 11.2)		 6.8
(1.1 - 12.5)		 7.6
(3.6 - 11.6)		 8.3
(2.4 - 14.2)		 10.8
(5.2 - 16.4)		 7.1
(2.0 - 12.2)		 3.6
(0.1 - 7.1)		 23.3
(12.6 - 34.0)
4F11
G12R 		NA C G 1.7
(0.7 - 2.6)		 0.8
(0.2 - 1.5)		 1.4
(0 - 4.1)		 0.0 2.4
(0 - 5.7)		 0.8
(0 - 2.4)		 1.0
(0 - 3.0)		 0.9
(0 - 2.6)		 0.0
GGCX
Allele rs number Ref Var CANHR (n=350) SCF (n=359) Interior (n=37) Northern (n=85) South eastern (n=42) South western (n=60) Western (n=49) Multiple (n=56) Lower 48 (n=30)
11676382 C G 0.3
(0 - 0.7)		 3.8
(2.4 - 5.2)		 5.4
(0.3 - 10.5)		 2.4
(0.1 - 4.7)		 2.4
(0 - 5.7)		 4.2
(0.6 - 7.8)		 4.1
(1.7 - 8.0)		 2.7
(0 - 5.7)		 8.3
(1.3 - 15.3)
G421A NA G C 0.0 0.6
(0 - 1.2)		 0.0 0.0 2.4
(0 - 5.7)		 0.0 0.0 1.8
(0 - 4.3)		 0.0
R325Q 699664 G A 49.1
(45.3 - 52.9)		 35.9
(32.4 - 39.4)		 31.1
(20.6 - 41.6)		 38.2
(30.9 - 45.5)		 23.8
(14.7 - 32.9)		 29.2
(21.1 - 37.3)		 49.0
(39.1 - 58.9)		 43.8
(34.6 - 53.0)		 30.0
(18.4 - 41.6)