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rs10380
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MTRR
His595Tyr
|
Missense variant in methionine synthase reductase that impairs B12 reactivati...
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Methylation & Detox
|
|
Moderate
|
|
rs1051266
|
SLC19A1
G80A (His27Arg)
|
Folate transporter — how well folate gets into your cells
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Methylation & Detox
|
|
Moderate
|
|
rs1051296
|
SLC19A1
SLC19A1 variant (RFC1)
|
3'UTR variant in the reduced folate carrier that affects miR-595 binding, alt...
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Methylation & Detox
|
|
Moderate
|
|
rs1051298
|
SLC19A1
SLC19A1 3'UTR variant (c.*746C>T)
|
3'UTR variant in the folate transporter gene affecting pemetrexed toxicity ri...
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Methylation & Detox
|
|
Moderate
|
|
rs10925239
|
MTR
|
Deep intronic MTR variant associated with reduced cleft lip/palate risk via l...
|
Methylation & Detox
|
|
Emerging
|
|
rs10925254
|
MTR
|
Deep intronic MTR variant associated with reduced cleft lip/palate risk via l...
|
Methylation & Detox
|
|
Emerging
|
|
rs10925260
|
MTR
|
Intronic MTR variant associated with altered methionine synthase expression a...
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Methylation & Detox
|
|
Emerging
|
|
rs11545076
|
GGH
-124T>G
|
Promoter variant that increases GGH expression, accelerating hydrolysis of in...
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Methylation & Detox
|
|
Moderate
|
|
rs11627387
|
MTHFD1
|
Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, assoc...
|
Methylation & Detox
|
|
Moderate
|
|
rs12659
|
SLC19A1
|
Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked...
|
Methylation & Detox
|
|
Emerging
|
|
rs13420827
|
DNMT3A
|
3' UTR variant in the de novo DNA methyltransferase DNMT3A, associated with a...
|
Methylation & Detox
|
|
Emerging
|
|
rs1532268
|
MTRR
MTRR S175L
|
Missense variant in methionine synthase reductase that raises homocysteine wh...
|
Methylation & Detox
|
|
Moderate
|
|
rs3760775
|
FUT6
|
Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expres...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs162049
|
MTRR
|
Intronic MTRR variant associated with reduced enzyme expression and impaired ...
|
Methylation & Detox
|
|
Emerging
|
|
rs1800909
|
GGH
c.16T>C (p.Cys6Arg)
|
Signal-peptide missense variant that alters GGH subcellular targeting; C alle...
|
Methylation & Detox
|
|
Moderate
|
|
rs1801131
|
MTHFR
A1298C
|
Second MTHFR variant affecting enzyme activity in the regulatory domain
|
Methylation & Detox
|
|
Moderate
|
|
rs1801133
|
MTHFR
C677T
|
Key enzyme for converting folate to its active methylfolate form
|
Methylation & Detox
|
|
Established
|
|
rs6922269
|
MTHFD1L
|
Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...
|
Coronary Artery Disease & Atherosclerosis
|
|
Strong
|
|
rs1802059
|
MTRR
|
Synonymous MTRR variant (c.1911G>A) associated with congenital heart disease ...
|
Methylation & Detox
|
|
Emerging
|
|
rs61735836
|
FTCD
|
Missense variant in the FTCD enzyme that impairs one-carbon unit transfer fro...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs1979277
|
SHMT1
C1420T
|
Alters one-carbon metabolism and folate distribution; influences cancer risk,...
|
Methylation & Detox
|
|
Moderate
|
|
rs202676
|
FOLH1
T484A
|
Reduces intestinal folate hydrolase activity, impairing absorption of dietary...
|
Methylation & Detox
|
|
Moderate
|
|
rs202720
|
FOLH1
|
Intronic variant in the intestinal folate-cleaving enzyme FOLH1 (GCPII); the ...
|
Methylation & Detox
|
|
Emerging
|
|
rs2073067
|
MTHFD1L
MTHFD1L variant
|
Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...
|
Methylation & Detox
|
|
Moderate
|
|
rs2236224
|
MTHFD1
MTHFD1 R653Q
|
Intronic tag variant in MTHFD1 in strong LD with the R653Q missense variant, ...
|
Methylation & Detox
|
|
Moderate
|
|
rs2236225
|
MTHFD1
G1958A
|
Folate processing enzyme — reduced stability increases choline need
|
Methylation & Detox
|
|
Strong
|
|
rs234706
|
CBS
C699T
|
Common synonymous variant in the CBS gene associated with reduced cardiovascu...
|
Methylation & Detox
|
|
Moderate
|
|
rs2838956
|
SLC19A1
RFC1 intronic variant
|
Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carri...
|
Methylation & Detox
|
|
Emerging
|
|
rs3776455
|
MTRR
|
Intronic MTRR variant associated with altered folate-pathway cancer risk and ...
|
Methylation & Detox
|
|
Emerging
|
|
rs3788189
|
SLC19A1
SLC19A1 IVS2 variant
|
Intronic variant in the folate transporter gene associated with pemetrexed tr...
|
Methylation & Detox
|
|
Emerging
|
|
rs3788200
|
SLC19A1
SLC19A1 intron 2 variant
|
Intronic SLC19A1 tag variant in strong LD with the G80A folate-transporter co...
|
Methylation & Detox
|
|
Moderate
|
|
rs3788205
|
SLC19A1
SLC19A1 intronic variant
|
Intronic marker in the folate transporter gene; tags SLC19A1 haplotype variat...
|
Methylation & Detox
|
|
Emerging
|
|
rs4659744
|
MTR
MTR variant
|
Intronic MTR variant that tags the folate/B12-dependent remethylation locus a...
|
Methylation & Detox
|
|
Emerging
|
|
rs61886492
|
FOLH1
H475Y
|
Reduces intestinal GCPII enzyme activity by 53%, paradoxically raising circul...
|
Methylation & Detox
|
|
Strong
|
|
rs7946
|
PEMT
Val175Met
|
Phosphatidylcholine production — affects dietary choline requirements
|
Methylation & Detox
|
|
Strong
|
|
rs828903
|
MTHFD2
|
Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c...
|
Methylation & Detox
|
|
Moderate
|
|
rs914232
|
SLC19A1
RFC1 -43T>C
|
Regulatory variant that reduces reduced folate carrier protein expression, im...
|
Methylation & Detox
|
|
Moderate
|