F5 Allele and Genotype Frequencies

Available polymorphism(s)

rs number	Common Designations Nucleotide change Amino acid		Genotyping method
rs6025	Ex10-11G>A	Arg534Gln	TaqMan

 

 

 

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By Race/Ethnicity

Variant	Race-ethnicity	Allele % (95% CI)		Chi-square P-value†	Genotype % (95% CI)			Chi-square P-value†	HW P-value‡
rs6025		A	G		AA	AG	GG
	Non-Hispanic White	2.6 (2.1, 3.2)	97.4 (96.8, 97.9)	<0.001	0.0 (0.0, 0.1)	5.2 (4.2, 6.3)	94.8 (93.7, 95.8)	<0.001	0.49
	Non-Hispanic Black	0.6 (0.4, 1.0)	99.4 (99.0, 99.6)		0.0 (NA)	1.3 (0.8, 2.1)	98.7 (97.9, 99.2)		0.80
	Mexican American	1.0 (0.8, 1.4)	99.0 (98.6, 99.2)		0.0 (0.0, 0.3)	2.0 (1.4, 2.8)	98.0 (97.2, 98.5)		0.03
	Total*	2.2 (1.8, 2.7)	97.8 (97.3, 98.2)		0.0 (0.0, 0.1)	4.3 (3.5, 5.3)	95.7 (94.6, 96.5)

* Includes all U.S. race/ethnic groups.
† “other” race/ethnicity category was not included in chi-square tests.
‡ P-values from unweighted chi-square goodness-of-fit tests to test for deviations from Hardy-Weinberg (HW) proportions.

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By Age^*

Variant	Age (years)	Allele % (95% CI)		Chi-square P-value	Genotype % (95% CI)			Chi-square P-value
rs6025		A	G		AA	AG	GG
	12-19	2.3 (1.4, 3.7)	97.7 (96.3, 98.6)	0.128	0.0 (NA)	4.5 (2.7, 7.4)	95.5 (92.6, 97.3)	0.264
	20-39	1.7 (1.0, 2.8)	98.3 (97.2, 99.0)		0.0 (0.0, 0.1)	3.4 (2.0, 5.6)	96.6 (94.4, 98.0)
	40-59	3.0 (2.3, 4.0)	97.0 (96.0, 97.7)		0.0 (NA)	6.0 (4.5, 8.0)	94.0 (92.0, 95.5)
	>=60	1.9 (1.2, 3.0)	98.1 (97.0, 98.8)		0.1 (0.0, 0.5)	3.7 (2.3, 5.9)	96.3 (94.0, 97.7)
	Total	2.2 (1.8, 2.7)	97.8 (97.3, 98.2)		0.0 (0.0, 0.1)	4.3 (3.5, 5.3)	95.7 (94.6, 96.5)

* Includes all participants, regardless of race/ethnicity.

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By Sex^*

Variant	Sex	Allele % (95% CI)		Chi-square P-value	Genotype % (95% CI)			Chi-square P-value
rs6025		A	G		AA	AG	GG
	Male	2.4 (1.7, 3.4)	97.6 (96.6, 98.3)	0.323	0.0 (0.0, 0.2)	4.7 (3.3, 6.7)	95.3 (93.3, 96.7)	0.496
	Female	2.0 (1.7, 2.4)	98.0 (97.6, 98.3)		0.0 (0.0, 0.0)	4.0 (3.3, 4.7)	96.0 (95.3, 96.7)
	Total	2.2 (1.8, 2.7)	97.8 (97.3, 98.2)		0.0 (0.0, 0.1)	4.3 (3.5, 5.3)	95.7 (94.6, 96.5)

* Includes all participants, regardless of race/ethnicity.

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By Race/Ethnicity and Age

Variant	Race-ethnicity	Age (years)	Allele % (95% CI)		Genotype % (95% CI)
rs6025			A	G	AA	AG	GG
	Non-Hispanic White	12-19	2.8 (1.7, 4.4)	97.2 (95.6, 98.3)	0.0 (NA)	5.5 (3.4, 8.8)	94.5 (91.2, 96.6)
		20-39	2.2 (1.3, 3.8)	97.8 (96.2, 98.7)	0.0 (NA)	4.4 (2.6, 7.6)	95.6 (92.4, 97.4)
		40-59	3.4 (2.6, 4.5)	96.6 (95.5, 97.4)	0.0 (NA)	6.8 (5.1, 9.0)	93.2 (91.0, 94.9)
		>=60	2.1 (1.3, 3.4)	97.9 (96.6, 98.7)	0.1 (0.0, 0.6)	4.0 (2.4, 6.6)	95.9 (93.3, 97.5)
	Non-Hispanic Black	12-19	0.8 (0.3, 2.2)	99.2 (97.8, 99.7)	0.0 (NA)	1.7 (0.7, 4.3)	98.3 (95.7, 99.3)
		20-39	0.6 (0.3, 1.2)	99.4 (98.8, 99.7)	0.0 (NA)	1.1 (0.6, 2.3)	98.9 (97.7, 99.4)
		40-59	0.8 (0.3, 2.1)	99.2 (97.9, 99.7)	0.0 (NA)	1.6 (0.6, 4.2)	98.4 (95.8, 99.4)
		>=60	0.1 (0.0, 1.2)	99.9 (98.8, 100.0)	0.0 (NA)	0.3 (0.0, 2.4)	99.7 (97.6, 100.0)
	Mexican American	12-19	1.4 (0.5, 3.4)	98.6 (96.6, 99.5)	0.0 (NA)	2.8 (1.1, 6.8)	97.2 (93.2, 98.9)
		20-39	0.9 (0.6, 1.5)	99.1 (98.5, 99.4)	0.1 (0.0, 0.7)	1.7 (1.0, 2.8)	98.2 (97.1, 98.9)
		40-59	0.9 (0.4, 2.4)	99.1 (97.6, 99.6)	0.0 (NA)	1.9 (0.7, 4.7)	98.1 (95.3, 99.3)
		>=60	1.0 (0.4, 2.9)	99.0 (97.1, 99.6)	0.0 (NA)	2.1 (0.7, 5.8)	97.9 (94.2, 99.3)

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By Race/Ethnicity and Sex

Variant	Race-ethnicity	Sex	Allele % (95% CI)		Genotype % (95% CI)
rs6025			A	G	AA	AG	GG
	Non-Hispanic White	Male	2.7 (1.8, 3.8)	97.3 (96.2, 98.2)	0.0 (0.0, 0.3)	5.3 (3.6, 7.6)	94.7 (92.4, 96.3)
		Female	2.5 (2.1, 3.1)	97.5 (96.9, 97.9)	0.0 (NA)	5.1 (4.2, 6.1)	94.9 (93.9, 95.8)
	Non-Hispanic Black	Male	0.6 (0.4, 1.0)	99.4 (99.0, 99.6)	0.0 (NA)	1.2 (0.8, 2.0)	98.8 (98.0, 99.2)
		Female	0.6 (0.3, 1.3)	99.4 (98.7, 99.7)	0.0 (NA)	1.3 (0.6, 2.6)	98.7 (97.4, 99.4)
	Mexican American	Male	1.3 (0.8, 2.1)	98.7 (97.9, 99.2)	0.0 (NA)	2.6 (1.6, 4.3)	97.4 (95.7, 98.4)
		Female	0.7 (0.4, 1.3)	99.3 (98.7, 99.6)	0.1 (0.0, 0.7)	1.3 (0.7, 2.4)	98.6 (97.6, 99.2)

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