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U.S. Genome Variation Estimates

MTHFR Allele and Genotype Frequencies

Available polymorphism(s)

rs number

Common Designations

Nucleotide change Amino acid

Genotyping method

rs1801131

Ex8-62A>C
1298A>C

Glu429Ala

TaqMan

rs1801133

Ex5+79C>T
677C>T

Ala222Val

MGB Eclipse

rs2066470

Ex2-120C>T

Pro39Pro

MGB Eclipse




Allele and Genotype Frequencies for Subpopulations


By Race/Ethnicity

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs1801131ACAAACCC
Non-Hispanic White68.9 (65.9, 71.8)31.1 (28.2, 34.1)<0.00148.2 (44.1, 52.4)41.3 (38.2, 44.4)10.5 (8.4, 12.9)<0.0010.07
Non-Hispanic Black82.1 (81.1, 83.1)17.9 (16.9, 18.9)67.6 (65.9, 69.2)29.0 (27.4, 30.7)3.4 (2.7, 4.2)0.42
Mexican American81.2 (77.8, 84.2)18.8 (15.8, 22.2)66.0 (61.0, 70.6)30.5 (27.2, 34.1)3.5 (2.2, 5.6)0.77
Total*71.6 (69.2, 73.9)28.4 (26.1, 30.8)52.2 (48.8, 55.6)38.8 (36.1, 41.5)9.0 (7.4, 10.9)
rs1801133CTCCCTTT
Non-Hispanic White67.4 (64.8, 70.0)32.6 (30.0, 35.2)<0.00146.4 (42.5, 50.3)42.1 (38.8, 45.5)11.5 (9.7, 13.5)<0.0010.10
Non-Hispanic Black88.4 (87.5, 89.2)11.6 (10.8, 12.5)77.9 (76.2, 79.5)20.9 (19.2, 22.7)1.2 (0.7, 1.9)0.49
Mexican American55.4 (52.5, 58.3)44.6 (41.7, 47.5)30.7 (27.5, 34.1)49.4 (46.3, 52.5)19.9 (16.7, 23.5)0.93
Total*69.2 (67.2, 71.2)30.8 (28.8, 32.8)49.3 (46.3, 52.4)39.8 (37.2, 42.5)10.9 (9.4, 12.5)
rs2066470CTCCCTTT
Non-Hispanic White90.4 (88.6, 92.0)9.6 (8.0, 11.4)0.04281.9 (78.7, 84.8)17.0 (14.4, 20.0)1.1 (0.6, 1.8)0.0570.32
Non-Hispanic Black91.3 (90.0, 92.4)8.7 (7.6, 10.0)83.5 (81.2, 85.6)15.6 (13.6, 17.8)0.9 (0.5, 1.6)0.25
Mexican American93.5 (92.2, 94.6)6.5 (5.4, 7.8)87.4 (85.1, 89.5)12.1 (10.1, 14.4)0.5 (0.2, 1.2)0.84
Total*90.3 (88.9, 91.5)9.7 (8.5, 11.1)81.9 (79.4, 84.2)16.8 (14.7, 19.2)1.3 (0.9, 1.7)

* 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*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1801131ACAAACCC
12-1974.8 (71.5, 77.8)25.2 (22.2, 28.5)0.03055.9 (50.7, 61.0)37.8 (32.9, 42.9)6.3 (4.4, 9.1)0.041
20-3972.5 (69.5, 75.4)27.5 (24.6, 30.5)52.7 (48.2, 57.1)39.7 (35.9, 43.7)7.6 (5.7, 10.1)
40-5969.8 (65.9, 73.4)30.2 (26.6, 34.1)51.1 (46.1, 56.1)37.3 (33.5, 41.4)11.5 (8.6, 15.2)
>=6070.1 (68.2, 72.0)29.9 (28.0, 31.8)50.3 (46.7, 54.0)39.6 (35.4, 44.0)10.0 (8.4, 12.0)
Total71.6 (69.2, 73.9)28.4 (26.1, 30.8)52.2 (48.8, 55.6)38.8 (36.1, 41.5)9.0 (7.4, 10.9)
rs1801133CTCCCTTT
12-1969.3 (64.7, 73.5)30.7 (26.5, 35.3)0.76449.8 (42.5, 57.1)39.0 (32.2, 46.4)11.2 (8.4, 14.7)0.551
20-3969.9 (67.1, 72.5)30.1 (27.5, 32.9)50.4 (46.4, 54.4)38.9 (35.2, 42.7)10.7 (8.6, 13.2)
40-5969.1 (65.5, 72.5)30.9 (27.5, 34.5)49.1 (44.3, 54.0)40.0 (35.6, 44.6)10.9 (7.9, 14.7)
>=6068.1 (65.1, 70.9)31.9 (29.1, 34.9)47.1 (43.5, 50.8)41.9 (39.2, 44.6)11.0 (8.6, 13.9)
Total69.2 (67.2, 71.2)30.8 (28.8, 32.8)49.3 (46.3, 52.4)39.8 (37.2, 42.5)10.9 (9.4, 12.5)
rs2066470CTCCCTTT
12-1991.3 (88.6, 93.4)8.7 (6.6, 11.4)0.01783.1 (78.0, 87.2)16.5 (12.5, 21.4)0.4 (0.1, 1.3)<0.001
20-3991.7 (89.6, 93.4)8.3 (6.6, 10.4)84.2 (80.6, 87.3)15.0 (12.1, 18.4)0.8 (0.4, 1.9)
40-5989.0 (87.0, 90.8)11.0 (9.2, 13.0)80.1 (76.8, 83.0)17.8 (15.4, 20.6)2.1 (1.2, 3.5)
>=6088.8 (87.2, 90.1)11.2 (9.9, 12.8)79.1 (76.0, 81.8)19.4 (16.4, 22.7)1.6 (0.9, 2.6)
Total90.3 (88.9, 91.5)9.7 (8.5, 11.1)81.9 (79.4, 84.2)16.8 (14.7, 19.2)1.3 (0.9, 1.7)

* Includes all participants, regardless of race/ethnicity.

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By Sex*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs1801131ACAAACCC
Male71.4 (68.0, 74.6)28.6 (25.4, 32.0)0.78452.1 (47.6, 56.7)38.6 (34.9, 42.4)9.3 (6.8, 12.6)0.935
Female71.8 (69.7, 73.8)28.2 (26.2, 30.3)52.3 (49.2, 55.4)39.0 (36.2, 41.8)8.7 (7.2, 10.6)
Total71.6 (69.2, 73.9)28.4 (26.1, 30.8)52.2 (48.8, 55.6)38.8 (36.1, 41.5)9.0 (7.4, 10.9)
rs1801133CTCCCTTT
Male69.6 (66.6, 72.5)30.4 (27.5, 33.4)0.62850.2 (45.5, 54.9)38.8 (34.5, 43.3)11.0 (8.9, 13.5)0.731
Female68.9 (66.7, 70.9)31.1 (29.1, 33.3)48.5 (45.4, 51.6)40.7 (38.1, 43.3)10.8 (9.2, 12.5)
Total69.2 (67.2, 71.2)30.8 (28.8, 32.8)49.3 (46.3, 52.4)39.8 (37.2, 42.5)10.9 (9.4, 12.5)
rs2066470CTCCCTTT
Male90.2 (88.4, 91.8)9.8 (8.2, 11.6)0.77781.9 (78.6, 84.8)16.7 (14.0, 19.7)1.4 (1.0, 2.1)0.731
Female90.4 (89.1, 91.6)9.6 (8.4, 10.9)81.9 (79.6, 84.0)17.0 (15.0, 19.2)1.1 (0.6, 2.0)
Total90.3 (88.9, 91.5)9.7 (8.5, 11.1)81.9 (79.4, 84.2)16.8 (14.7, 19.2)1.3 (0.9, 1.7)

* Includes all participants, regardless of race/ethnicity.

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By Race/Ethnicity and Age

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs1801131ACAAACCC
Non-Hispanic White12-1972.5 (67.8, 76.9)27.5 (23.1, 32.2)52.8 (46.2, 59.2)39.5 (33.8, 45.5)7.7 (4.5, 12.8)
20-3968.9 (64.8, 72.8)31.1 (27.2, 35.2)47.0 (41.3, 52.8)43.8 (39.1, 48.6)9.2 (6.5, 12.8)
40-5967.6 (63.7, 71.3)32.4 (28.7, 36.3)48.0 (43.0, 53.1)39.2 (35.1, 43.4)12.8 (9.7, 16.7)
>=6068.6 (66.4, 70.6)31.4 (29.4, 33.6)48.2 (43.9, 52.4)40.8 (35.9, 45.9)11.0 (9.2, 13.1)
Non-Hispanic Black12-1982.7 (79.2, 85.8)17.3 (14.2, 20.8)68.9 (62.9, 74.3)27.7 (22.3, 33.8)3.4 (1.8, 6.5)
20-3981.7 (79.2, 83.9)18.3 (16.1, 20.8)67.1 (62.9, 71.1)29.1 (25.5, 33.1)3.7 (2.7, 5.1)
40-5982.2 (78.8, 85.1)17.8 (14.9, 21.2)67.0 (61.5, 72.2)30.3 (25.6, 35.5)2.6 (1.3, 5.3)
>=6082.4 (75.8, 87.5)17.6 (12.5, 24.2)68.3 (57.5, 77.5)28.1 (19.9, 38.1)3.6 (1.6, 7.6)
Mexican American12-1982.9 (76.8, 87.7)17.1 (12.3, 23.2)70.6 (62.5, 77.6)24.7 (19.7, 30.4)4.8 (2.1, 10.5)
20-3981.5 (78.4, 84.2)18.5 (15.8, 21.6)66.2 (61.5, 70.5)30.7 (27.0, 34.5)3.2 (1.7, 5.7)
40-5979.4 (73.0, 84.6)20.6 (15.4, 27.0)62.1 (51.4, 71.7)34.6 (25.9, 44.5)3.3 (1.6, 6.5)
>=6080.1 (77.2, 82.7)19.9 (17.3, 22.8)63.6 (58.0, 68.8)33.0 (26.8, 39.7)3.4 (1.6, 7.2)
rs1801133CTCCCTTT
Non-Hispanic White12-1967.4 (60.3, 73.8)32.6 (26.2, 39.7)46.9 (36.7, 57.3)41.0 (32.2, 50.4)12.1 (8.0, 18.0)
20-3968.4 (64.6, 71.9)31.6 (28.1, 35.4)47.7 (41.8, 53.7)41.4 (35.6, 47.3)10.9 (8.3, 14.3)
40-5967.0 (62.7, 71.0)33.0 (29.0, 37.3)46.1 (40.8, 51.4)41.8 (36.7, 47.0)12.1 (8.3, 17.4)
>=6066.5 (63.6, 69.3)33.5 (30.7, 36.4)44.2 (40.7, 47.9)44.5 (41.5, 47.6)11.3 (8.8, 14.4)
Non-Hispanic Black12-1987.9 (84.8, 90.5)12.1 (9.5, 15.2)77.4 (72.2, 81.8)21.1 (17.1, 25.8)1.5 (0.5, 4.3)
20-3988.3 (86.8, 89.5)11.7 (10.5, 13.2)77.7 (75.3, 79.9)21.2 (19.1, 23.5)1.1 (0.5, 2.6)
40-5989.6 (87.2, 91.6)10.4 (8.4, 12.8)79.9 (75.7, 83.6)19.3 (15.8, 23.4)0.8 (0.2, 3.2)
>=6087.3 (83.8, 90.1)12.7 (9.9, 16.2)76.0 (69.6, 81.3)22.6 (17.3, 29.0)1.4 (0.5, 3.9)
Mexican American12-1951.9 (46.3, 57.5)48.1 (42.5, 53.7)28.4 (22.6, 35.0)47.0 (37.9, 56.4)24.6 (17.2, 33.8)
20-3955.5 (53.2, 57.7)44.5 (42.3, 46.8)31.1 (28.1, 34.2)48.8 (45.5, 52.3)20.1 (17.7, 22.7)
40-5958.8 (53.4, 64.1)41.2 (35.9, 46.6)33.1 (26.8, 39.9)51.6 (47.2, 56.0)15.4 (11.1, 20.8)
>=6054.5 (51.0, 57.9)45.5 (42.1, 49.0)28.2 (23.9, 32.9)52.7 (46.1, 59.1)19.2 (14.7, 24.6)
rs2066470CTCCCTTT
Non-Hispanic White12-1992.4 (88.8, 94.9)7.6 (5.1, 11.2)84.7 (77.8, 89.8)15.3 (10.2, 22.2)0.0 (NA)
20-3991.5 (88.7, 93.7)8.5 (6.3, 11.3)83.9 (79.1, 87.8)15.2 (11.6, 19.6)0.9 (0.3, 2.7)
40-5989.8 (87.8, 91.5)10.2 (8.5, 12.2)80.9 (77.5, 83.8)17.8 (15.1, 20.9)1.3 (0.7, 2.5)
>=6088.4 (86.6, 90.0)11.6 (10.0, 13.4)78.4 (75.0, 81.5)19.9 (16.6, 23.8)1.6 (0.8, 3.2)
Non-Hispanic Black12-1990.9 (87.2, 93.5)9.1 (6.5, 12.8)82.8 (76.6, 87.7)16.0 (11.6, 21.8)1.1 (0.3, 3.7)
20-3991.6 (90.1, 92.8)8.4 (7.2, 9.9)83.6 (80.6, 86.1)16.0 (13.4, 19.1)0.4 (0.1, 1.1)
40-5991.7 (88.8, 93.8)8.3 (6.2, 11.2)84.5 (79.6, 88.4)14.4 (10.8, 18.9)1.2 (0.4, 3.2)
>=6090.5 (85.9, 93.7)9.5 (6.3, 14.1)82.5 (74.9, 88.2)15.9 (10.8, 22.7)1.6 (0.6, 4.2)
Mexican American12-1994.3 (91.0, 96.5)5.7 (3.5, 9.0)89.6 (84.4, 93.2)9.5 (6.5, 13.8)0.9 (0.2, 4.3)
20-3994.2 (93.0, 95.3)5.8 (4.7, 7.0)88.7 (86.2, 90.8)11.0 (8.9, 13.7)0.3 (0.1, 1.2)
40-5991.4 (88.8, 93.5)8.6 (6.5, 11.2)83.6 (78.2, 87.9)15.6 (11.1, 21.5)0.8 (0.2, 2.8)
>=6092.3 (90.6, 93.7)7.7 (6.3, 9.4)84.6 (81.3, 87.4)15.4 (12.6, 18.7)0.0 (NA)

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By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs1801131ACAAACCC
Non-Hispanic WhiteMale68.6 (64.5, 72.5)31.4 (27.5, 35.5)48.3 (42.8, 53.8)40.7 (36.2, 45.3)11.0 (7.9, 15.1)
Female69.1 (66.2, 71.9)30.9 (28.1, 33.8)48.2 (44.1, 52.3)41.9 (38.3, 45.5)9.9 (7.7, 12.7)
Non-Hispanic BlackMale81.3 (79.4, 83.1)18.7 (16.9, 20.6)66.3 (63.3, 69.2)30.0 (27.5, 32.7)3.6 (2.6, 5.0)
Female82.7 (81.3, 84.1)17.3 (15.9, 18.7)68.7 (66.1, 71.1)28.2 (25.7, 30.8)3.2 (2.3, 4.4)
Mexican AmericanMale81.6 (78.3, 84.6)18.4 (15.4, 21.7)66.0 (60.3, 71.2)31.3 (26.8, 36.3)2.7 (1.8, 4.0)
Female80.8 (76.8, 84.2)19.2 (15.8, 23.2)65.9 (60.7, 70.8)29.6 (26.5, 32.9)4.4 (2.5, 7.9)
rs1801133CTCCCTTT
Non-Hispanic WhiteMale68.4 (64.7, 71.9)31.6 (28.1, 35.3)48.0 (42.4, 53.6)40.8 (35.7, 46.2)11.2 (8.6, 14.3)
Female66.5 (63.6, 69.3)33.5 (30.7, 36.4)44.8 (40.7, 49.1)43.4 (39.9, 46.9)11.8 (9.8, 14.1)
Non-Hispanic BlackMale88.1 (86.3, 89.6)11.9 (10.4, 13.7)77.3 (74.0, 80.3)21.5 (18.4, 24.9)1.2 (0.6, 2.4)
Female88.7 (87.6, 89.7)11.3 (10.3, 12.4)78.4 (76.3, 80.4)20.5 (18.3, 22.8)1.1 (0.6, 2.0)
Mexican AmericanMale54.8 (50.6, 58.9)45.2 (41.1, 49.4)29.3 (25.7, 33.2)50.9 (47.2, 54.6)19.8 (15.1, 25.5)
Female56.1 (53.9, 58.3)43.9 (41.7, 46.1)32.2 (28.7, 35.9)47.8 (43.9, 51.8)20.0 (18.0, 22.2)
rs2066470CTCCCTTT
Non-Hispanic WhiteMale90.0 (87.6, 92.0)10.0 (8.0, 12.4)81.3 (77.0, 85.0)17.4 (13.9, 21.4)1.3 (0.7, 2.4)
Female90.9 (89.2, 92.3)9.1 (7.7, 10.8)82.5 (79.6, 85.1)16.7 (14.2, 19.5)0.8 (0.3, 1.9)
Non-Hispanic BlackMale92.2 (90.6, 93.6)7.8 (6.4, 9.4)84.9 (81.8, 87.6)14.6 (12.0, 17.7)0.5 (0.2, 1.2)
Female90.5 (88.6, 92.2)9.5 (7.8, 11.4)82.3 (79.0, 85.2)16.4 (13.7, 19.5)1.2 (0.6, 2.7)
Mexican AmericanMale93.6 (91.9, 94.9)6.4 (5.1, 8.1)87.7 (84.7, 90.1)11.8 (9.5, 14.6)0.6 (0.2, 1.9)
Female93.4 (91.5, 94.9)6.6 (5.1, 8.5)87.2 (83.4, 90.3)12.4 (9.3, 16.3)0.4 (0.1, 1.4)


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Error processing SSI file
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