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November 11, 2013 156 comments

Yesterday evening I ran up to my computer and started clicking


madly in every direction after I saw an email from
23andme.com alerting me that my genetic profile was ready.
No methylation or detox information in sight but lots of other
interesting things (see image on right). My risk of developing
Parkinsons or Alzheimers is below average awesome!
Maybe I will thrive into old age after chelating out the heavy
metals.
It took me about 15 minutes just to dig up the website where
people get their raw 23andme.com data interpreted
automatically for methylation info. That is something called
Sterlings app and it cost $20. Heres a list of analyzers:
Genetic Genie
Livewello (highly recommend the SNP sandbox and
variance reports)
Promethease
Sterlings app
My results from Sterlings app below. Guessing it will take weeks or months or longer for me to understand the key
sections detox, methylation and mitochondrial. Right now, Im clueless.
Update: Ive learned a lot since receiving my results and have posted the research below underneath the various
results it applies to hope this may help you evaluate your own genetics. Amazingly, 23andme identified my
mothers maiden name in the ancestry results. Actually, they show the top five relative surnames and the number
one surname happens to be my moms maiden name! The other four names are also quite illustrious.
If youre unfamiliar with basic genetics, theres a primer below.
DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

CYP1A1*2C A4889G

rs1048943

TT

-/-

CYP1A1*4 C2453A

rs1799814

GG

-/-

CYP1A2 C164A

rs762551

AC

+/-

CYP1B1 L432V

rs1056836

CG

+/-

CYP1B1 N453S

rs1800440

TT

-/-

CYP1B1 R48G

rs10012

GG

-/-

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

CYP2A6*2 A1799T

rs1801272

AA

-/-

CYP2C19*17

rs12248560

CC

-/-

CYP2C9*2 C430T

rs1799853

CC

-/-

CYP2C9*3 A1075C

rs1057910

AA

-/-

CYP2D6 S486T

rs1135840

GG

+/+

CYP2D6 T100C

rs1065852

GG

-/-

CYP2D6 T2850C

rs16947

AA

+/+

CYP2E1*1B G9896C

rs2070676

CC

-/-

CYP2E1*4 A4768G

rs6413419

GG

-/-

CYP3A4*1B

rs2740574

TT

-/-

CYP3A4*3 M445T

rs4986910

AA

-/-

CYPs are primarily membrane-associated proteins located either in the inner membrane of mitochondria or in
the endoplasmic reticulum of cells. CYPs metabolize thousands of endogenous and exogenous chemicals. Some
CYPs metabolize only one (or a very few) substrates, such as CYP19 (aromatase), while others may metabolize
multiple substrates. Both of these characteristics account for their central importance in medicine. Cytochrome
P450 enzymes are present in most tissues of the body, and play important roles in hormone synthesis and
breakdown including estrogen and testosterone synthesis and metabolism, cholesterol synthesis, and vitamin
D metabolism. Cytochrome P450 enzymes also function to metabolize potentially toxic compounds,
including drugs and products of endogenous metabolism such as bilirubin, principally in the liver.rs762551 (C)
allele is a slow metabolizer or of certain substrates including caffeine which means Im more stimulated by it than
most people.rs1056836 increases susceptibility to lung and breast cancer, blocks testosterone and inhibits
mitochondrial function.rs1135840 is involved in the metabolism of approximately 25% of all medications and most
psych meds including antipsychotics and antidepressants.
GPX3

rs8177412

TT

-/-

GSTM1

rs12068997

CC

-/-

GSTM1

rs4147565

GG

-/-

GSTM1

rs4147567

AA

-/-

GSTM1

rs4147568

TT

-/-

GSTM1

rs1056806

CC

-/-

GSTM1

rs12562055

TT

-/-

GSTM1

rs2239892

AA

-/-

5/6/2016 1:43 PM

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

GSTP I105V

rs1695

AG

+/-

GSTP1 A114V

rs1138272

CC

-/-

GSTP genes encode the Glutathione S-transferase P enzyme. Glutathione S-transferases (GSTs) are a family of
enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and
electrophilic compounds with reduced glutathione. Mutations here will increase your need for glutathione and
importance of chelating out mercury.rs1695 influences asthma risk.
NAT1 A560G(?) (R187Q)

rs4986782

GG

-/-

NAT2 A803G (K268R)

rs1208

GG

+/+

NAT2 C190T (R64W)

rs1805158

CC

-/-

NAT2 G590A (R197Q)

rs1799930

GG

-/-

NAT2 G857A (G286E)

rs1799931

GG

-/-

NAT2 T341C (I114T)

rs1801280

CC

+/+

NAT2 encodes N-acetyltransferases which are enzymes acting primarily in the liver to detoxify a large number of
chemicals, including caffeine and several prescribed drugs. The NAT2 acetylation polymorphism is important
because of its primary role in the activation and/or deactivation of many chemicals in the bodys environment,
including those produced by cigarettes as well as aromatic amine and hydrazine drugs used medicinally. In turn,
this can affect an individuals cancer risk.I have a particular combination of NAT2 polymorphisms rs1801280 (C)
+ rs1208 (G) which makes me a slow metabolizer. In general, slow metabolizers have higher rates of certain
types of cancer and are more susceptible to side effects from chemicals (known as MCS) metabolized by NAT2.
SOD2

rs2758331

AA

+/+

SOD2

rs2855262

CT

+/-

SOD2 A16V

rs4880

GG

+/+

SOD2 gene is a member of the iron/manganese superoxide dismutase family and may be one of the key
sources of my troubles. This protein transforms toxic superoxide, a byproduct of the mitochondrial electron
transport chain, into hydrogen peroxide and diatomic oxygen. In simpler terms, the more energy your
mitochondria produce, the more byproducts (also called free radicals) get produced. These toxic byproducts tear
up cell membranes and walls through a process called oxidative stress.Mutations in the SOD2 gene diminish
your ability to transform these toxic byproducts into harmless components. People with SOD2 polymorphisms
may not tolerate nitrates or fish oil well. Mutations in this gene have been associated with idiopathic
cardiomyopathy (IDC), sporadic motor neuron disease, and cancer.
Now what about SOD1 & 3? I dont know why it doesnt appear on this report but I was able to get some
information on it from Livewello and it looks like I am much better off there. Heres my SOD1 and SOD3 status.
Just for kicks, I decided to run SOD2 and I find it shows a much different picture than sterlings app: my SOD 2
on Livewello. Notice how it shows that I do have some working SOD2 genes!

5/6/2016 1:43 PM

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DETOX
Gene & Variation
PON1 Q192R

rsID #
rs662

Risk Allele
C

Your Alleles & Results


CT

+/-

***
TONGUE TIE / CLEFT PALATE
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

CTH S4031I

rs1021737

GT

+/-

IRF6

rs987525

AC

+/-

IRF6

rs861020

AG

+/-

RARA

rs7217852

AA

-/-

RARA

rs9904270

CC

-/-

TBX22

rs41307258

TBX22

rs28935177

***
ALLERGY/MOLD
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

HLA

rs7775228

TT

-/-

HLA

rs2155219

GT

+/-

***
IgE
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

FCER1A

rs2427837

AG

+/-

IL-13 C1112T

rs1800925

CC

-/-

DARC

rs2814778

TT

-/-

IL13

rs1295685

GG

-/-

CD14

rs2569191

CC

+/+

SOCS-1 -820G>T

rs33977706

CC

-/-

C3

rs366510

GT

+/-

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

FCER1A / OR10J2P

rs2494262

AA

+/+

FCER1A

rs2251746

CT

+/-

RAD50

rs2040704

AA

-/-

RAD50

rs2240032

CC

-/-

***
IgG
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

FCGR2A

rs1801274

AA

+/+

GSTM3 V224I

rs7483

CC

-/-

TNFRSF13B

rs4792800

AA

-/-

***
IgA
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

TRAF1

rs3761847

AG

+/-

IRF5

rs4728142

AA

+/+

IGF1R

rs2229765

AA

+/+

IFIH1 (HLA)

rs1990760

TT

-/-

HLA

rs9271366

AA

-/-

CFH

rs6677604

AG

+/-

HLA-DQA2

rs9275224

AG

+/-

MTC03P1

rs9275596

CT

+/-

PSMB8 / TAP1 / TAP2

rs9357155

GG

-/-

HLA-DPB2 / COL11A2P

rs1883414

AA

+/+

***
CLOTTING FACTORS
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

CETP

rs1800775

AA

-/-

CYP4V2

rs13146272

AC

+/-

GP6

rs1613662

AA

-/-

ITGB3 T196C

rs5918

CT

+/-

KNG I598T

rs2731672

CT

+/-

NR1I2

rs1523127

AC

+/-

SERPINC1

rs2227589

CT

+/-

HRG

rs9898

CC

-/-

F12

rs1801020

AG

+/-

F11

rs2289252

CT

+/-

F11

rs2036914

CT

+/-

F10 113777509

rs3211719

AG

+/-

F7 A353G

rs6046

GG

-/-

F2 (Prothrombin 20210A)

i3002432

GG

-/-

F3 94997288

rs1324214

AA

+/+

F5 (Factor V Leiden)

rs6025

CC

-/-

F9 G580A

rs6048

***
METHYLATION
Gene & Variation
ACE Del16

rsID #
rs4343

Risk Allele
G

Your Alleles & Results


AG

+/-

ACE (heterozygous mutation) converts Angiotensin I, a weak vasoconstrictor, into Angiotensin II, a powerful
vasoconstrictor, which can cause endothelial dysfunction, free radical stress, and stimulate the release of
aldosterone from the adrenal gland. Cofactors are zinc and chloride.High aldosterone wastes magnesium and
potassium, retains sodium, and stiffens the heart. Decreased potassium can lead to fatigue and decreased
energy production as cellular membrane activation especially in the brain and peripheral nervous system is
dependent upon sodium/potassium balance.In adults drug therapy and possibly flavonoids, hibiscus extract,
arginine and pomegranate can be used to block ACE and aldosterone. In kids, pay attention to electrolyte levels.

5/6/2016 1:43 PM

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

ADD1 G460W

rs4961

GG

-/-

ACAT1-02

rs3741049

GG

-/-

AGT M235T/C4072T

rs699

AA

-/-

AHCY-01

rs819147

CT

+/-

AHCY-02

rs819134

AG

+/-

AHCY-19

rs819171

CT

+/-

AHCY (various heterozygous mutations) SAMe is the key methyl donor generated from methionine; it is
metabolised to homocysteine by AHCY. A defect could create something of a bottleneck, lowering sulphate and
ammonia levels. This is not necessarily a bad thing if you have mutations along the transulfuration pathway (i.e.
the CBS enzyme), which would cause taurine levels to rise (with a corresponding decrease in glutathione).I dont
have this problem. Ordinary methylation support is fine in my situation, since this will keep the cycle spinning.
BHMT

rs16876512

CT

+/-

BHMT

rs6875201

AG

+/-

BHMT-02

rs567754

CC

-/-

BHMT-04

rs617219

AA

-/-

BHMT-08

rs651852

CT

+/-

BHMT R239Q

rs3733890

AG

+/-

BHMT (various heterozygous mutations) enzyme is responsible for converting homocysteine to methionine. It
does this by way of a short cut, bypassing the normal B12/methylfolate-dependent route.Mine is probably
working less optimally, which isnt a problem if I improve the status of my methylation cycle via the long route.
However, taking TMG (Betaine) may get this route functioning optimally.
CBS A13637G

rs2851391

CC

-/-

CBS A360A

rs1801181

GG

-/-

CBS C19150T

rs4920037

GG

-/-

CBS C699T

rs234706

GG

-/-

CBS N212N

rs2298758

GG

-/-

COMT

rs6269

GG

+/+

COMT -61 P199P

rs769224

GG

-/-

COMT H62H

rs4633

CC

-/-

5/6/2016 1:43 PM

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DETOX
Gene & Variation
COMT V158M

rsID #
rs4680

Risk Allele
A

Your Alleles & Results


GG

-/-

COMT (one homozygous mutation) This gene helps break down dopamine and norepinephrine. A defect will
cause higher dopamine due to slower breakdown and is associated with ADD/ADHD. Defects will make you
more susceptible to dopamine fluctuations, therefore mood swings. People without COMT mutations are
generally more even tempered.My defect isnt on the V158M gene, which is the key enzyme for breaking down
dopamine. Those with mutations on this gene have to be careful with taking too many methyl donors.COMT must
be read along with VDR Taq note that my +/+ means I dont make much dopamine. Taking too many methyl
groups when you already have lots floating around (because your mutated gene isnt using them) can cause
mood swings, aggression, etc. This is one reason why some people struggle with mb12. I dont have this problem
because my COMT mutation is balanced by my VDR mutation.
DAO

rs2070586

GG

-/-

DAO

rs2111902

GT

+/-

DAO

rs3741775

AC

+/-

DHFR

rs1643649

TT

-/-

FOLR1

rs2071010

GG

-/-

FOLR2

rs651933

AG

+/-

FOLR3

rs7925545

AA

-/-

FOLR3

rs7926875

CC

-/-

FOLR Folate Receptor genes bind to folate and reduced folic acid derivatives and mediates delivery of
5-methyltetrahydrofolate to the interior of cells.
FUT2

rs492602

GG

+/+

FUT2

rs601338

AA

+/+

FUT2

rs602662

AA

+/+

FUT2 gene encodes the fucosyltransferase 2 enzyme which determines secretor status. Non-functional enzyme
resulting from a nonsense mutation in the FUT2 gene leads to the non-secretor phenotype. It has been shown
that non-secretor individuals show significantly reduced bifidobacterial diversity, richness, and abundance. This is
significant because intestinal microbiota plays an important role in human health.FUT2 has been called a robust
genetic predictor of vitamin B12 levels by Harvard researchers but so many genes are involved in B12 status I
cant make heads or tails of it yet.
G6PD

rs1050828

G6PD

rs1050829

GAD1

rs3749034

AA

+/+

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

GAD1

rs2241165

CC

+/+

GAD1

rs769407

CG

+/-

GAD1

rs2058725

TT

-/-

GAD1

rs3791851

CT

+/-

GAD1

rs3791850

GG

-/-

GAD1

rs12185692

CC

-/-

GAD1

rs3791878

GG

-/-

GAD1

rs10432420

AA

+/+

GAD1

rs3828275

CT

+/-

GAD1

rs701492

CT

+/-

GAD1

rs769395

AG

+/-

GAD2

rs1805398

GG

-/-

GAD these genes encode for glutamic acid decarboxylase which catalyzes the production of GABA.Glutamate
is the main excitatory neurotransmitter in the body and is essential for learning and short and long-term memory.
Glutamate is also the precursor to our primary calming neurotransmitter, GABA. GABA damps the propagation
of sounds so that a distinction can be made between the onset of sound and a background noise.Genomic
defects, viral illness, and heavy metals will compromise this balance, leading to excess glutamate, insufficient
GABA, excitotoxicity, and eventual neuron loss. Aluminum and lead also poisons this enzyme.Low GABA leads
to impaired speech, anxiety, aggressive behavior, poor socialization, poor eye contact, nystagmus, and
constipation. Glutamate excess does the same and also wastes glutathione and increases levels of TNF-alpha,
an inflammatory mediator that can produce gut inflammation.We can restore glutamate GABA balance by:
1. Addressing any CBS up regulation issues to decrease alpha-ketoglutarate production.
2. Decreasing intake of food precursors of glutamate (includes whey protein, gelatin, soy, peas, tomatoes,
parmesan cheese).
3. Supplementing with GABA
4. Copper inhibits conversion of glutamate to GABA by glutamate decarboxylase so avoid copper excess, or
better stated, an imbalance between copper and zinc.
5. Calcium is involved in glutamate toxicity, so supplement with magnesium to keep calcium in check.
6. Remove heavy metals with a chelating agent (toxicity due to mercury is aggravated by glutamate excess
they synergize to damage nerve cells).
7. Supplementing with Pycnogenol and grape seed extract.

GAMT

rs17851582

GG

-/-

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

GAMT

rs55776826

CC

-/-

GIF (TCN3)

rs558660

GG

-/-

MAO A R297R

rs6323

MAO A (heterozygous mutation) Monoamine oxidase A degrades serotonin, dopamine, epineprine, and
norepinephrine. This can result in swings in serotonin levels, and therefore mood swings.If youre affected, you
might want to reduce foods containing high levels of tryptophan. However, it is likely that, as methylation status
improves, serotonin fluctuations should also improve (based on improved levels of BH4).
MAT1A

rs72558181

CC

-/-

MTHFD1 C105T

rs1076991

CT

+/-

MTHFD1 G1958A

rs2236225

AA

+/+

MTHFD1L

rs11754661

GG

-/-

MTHFD1L

rs17349743

TT

-/-

MTHFD1L

rs6922269

GG

-/-

MTHFD1L

rs803422

GG

-/-

MTHFD This gene encodes a protein that possesses three distinct enzymatic activities related to folate. Recent
data shows choline requirements are increased by polymorphisms in the phosphatidylethanolamine
N-methyltransferase (PEMT) gene (i.e., 5465G->A; rs7946 and -744G->C; rs12325817) and in the
methylenetetrahydrofolate dehydrogenase (MTHFD1) gene (i.e., 1958G->A; rs2236225).Choline is a required
nutrient with roles in liver and brain function, lipid metabolism, and fetal development. Deficiency leads to liver
disease.
MTHFR 03 P39P

rs2066470

GG

-/-

MTHFR A1298C

rs1801131

TT

-/-

MTHFR A1572G

rs17367504

AA

-/-

MTHFR C677T

rs1801133

AG

+/-

MTHFR G1793A (R594Q)

rs2274976

CC

-/-

MTHFR

rs12121543

CC

-/-

MTHFR

rs13306560

CC

-/-

MTHFR

rs13306561

AA

-/-

MTHFR

rs1476413

CC

-/-

5/6/2016 1:43 PM

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

MTHFR

rs17037390

GG

-/-

MTHFR

rs17037396

CC

-/-

MTHFR

rs3737964

CC

-/-

MTHFR

rs4846048

AA

-/-

MTHFR

rs4846049

GG

-/-

MTHFR (heterozygous mutation) This enzyme has global effects for immune function, muscle metabolism,
neurochemical production and regulation, and detoxification.It is the enzyme most in vogue at the most for
analyzing because its responsible for converting inactive folate to active folate (i.e. methylfolate) and the +/defect is common.rs1801133 since your +/- is less efficient (operating at 65% of normal), your methylfolate
levels may be on the low side. It also suggests that you should stay away from folic acid and, perhaps, too much
dietary folate.
MTHFS

rs6495446

CC

+/+

MTHFS (homozygous mutation) MTHFS is the only enzyme known to catalyze a reaction with folinic acid. If
you have a deficiency in this enzyme, and you consume folinic acid (found in vegetables), it will build up in your
cells (this is from a note Rich wrote to Fred found here).The problem with this is that folinic acid normally acts as
a regulator of folate metabolism by inhibiting enzymes in this metabolism. In particular, it inhibits the serine
hydroxymethyltransferase (SHMT) enzyme, which normally is the main enzyme that converts tetrahydrofolate to
5,10 methylene tetrahydrofolate, which in turn is the substrate for making methylfolate.So, a deficiency in MTHFS
will allow folinic acid to rise inhibiting SHMT, which will lower 5,10 methylene tetrahydrofolate, and thus will also
lower production of methylfolate, which is needed by methionine synthase in the methylation cycle.This would
suggest that I need very high levels of methyl folate (and magnesium which is a cofactor).
MTR A2756G

rs1805087

AA

-/-

MTRR A66G

rs1801394

AG

+/-

MTRR H595Y

rs10380

CC

-/-

MTRR K350A

rs162036

AA

-/-

MTRR R415T

rs2287780

CC

-/-

MTRR-11 A664A

rs1802059

AG

+/-

MTRR

rs10520873

CT

+/-

MTRR

rs1532268

CT

+/-

MTRR

rs162049

AA

-/-

MTRR

rs3776467

AA

-/-

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DETOX
Gene & Variation
MTRR

rsID #
rs9332

Risk Allele
A

Your Alleles & Results


GG

-/-

MTRR (homozygous mutation) Generates the Methyl-B12 used by MTR to convert 5-Methyl-THF into
Methionine. With mutation, Methyl-B12 generation is limited, diminishing MTRs ability to produce Methionine.
Homocysteine toxicity will occur along with impaired formation of S-Adenosyl Methionine (SAMe) and methylation
in general. Suggests inactive B12 supplements wouldnt work well for me. Supplement also with TMG
(trimethylglycine), phosphatidylserine, or phosphatidylcholine. Avoid dimethylglycine (DMG) which would actually
slow down the Homocysteine to Methionine conversion.
NOS1

rs3782206

CC

-/-

NOS2

rs2297518

GG

-/-

NOS2

rs2274894

TT

+/+

NOS2

rs2248814

AA

+/+

NOS3

rs1800783

TT

-/-

NOS3

rs1800779

AA

-/-

NOS3

rs3918188

AA

+/+

NOS3 G10T

rs7830

GG

-/-

NOS3 T786C

rs2070744

TT

-/-

NOS (some homozygous mutations) in a process dependent on BH4, NOS converts arginine into nitric oxide
and assists in ammonia detoxification. In the absence of BH4, NOS will convert Arginine into peroxynitrite or
superoxide, which are both bad free radicals.I may benefit from reducing protein intake, eating Yucca or butter
with meals, or supplementing with butyrate or BH4 to keep ammonia levels down. Thankfully, I dont have a CBS
upregulation, which would have an additive effect.
PEMT

rs4244593

GT

+/-

PEMT

rs4646406

AT

+/-

PEMT

rs7946

TT

-/-

PEMT This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine (the
most abundant mammalian phospholipid) by sequential methylation in the liver. Mutations may mean Id benefit
from supplementing choline or eating more eggs. Studies have recently shown that because of common genetic
polymorphisms, choline deficiency is a widespread problem. Men, postmenopausal women, and premenopausal
women with PEMT SNPs need to increase choline intake in the diet to offset elevated risk of liver dysfunction.
SHMT1 C1420T

rs1979277

AG

+/-

SHMT1

rs9909104

TT

-/-

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

SHMT2

rs12319666

GG

-/-

SHMT2

rs34095989

AG

+/-

SHMT Serine hydroxymethyltransferase (SHMT) is an enzyme which plays an important role in cellular
one-carbon pathways by catalyzing the reversible, simultaneous conversions of L-serine to glycine (retro-aldol
cleavage) and tetrahydrofolate to 5,10-methylenetetrahydrofolate (hydrolysis). This reaction provides the largest
part of the one-carbon units available to the cell. SHMT is a member of the PLP or P5P (B6) enzyme class. P5P
is needed by both mSHMT and cSHMT at all times to activate this enzyme. Dr. Yasko puts SHMT first of the first
priority mutations because it is a dead end pathway. If its blocked, it takes your folate and holds it there so you
wont get it converted into folinic or 5MTF. This means it steals this from the rest of the cycle. She also notes,
People with the SHMT and/or ACAT mutations sometimes have a greater tendency to experience gut dysbiosis
and imbalanced flora.
SLC19A1

rs1888530

CT

+/-

SLC19A1

rs3788200

AG

+/-

SLC19A1 The SLC19A1 gene encodes a transporter involved in folate and thiamine uptake and may play a
role in intracellular folate distribution [21].
TCN1

rs526934

AA

-/-

TCN2 C766G

rs1801198

CG

+/-

TCN the frailty genes. TCN1 and 2 are both B12-binding and transport proteins but TCN2 is the primary of the
two. Both deliver cobalamin to cells.
TYMS

rs502396

CC

+/+

TYMS A nasty cancer gene (the mutation). Thymidylate synthase catalyzes the methylation of deoxyuridylate
to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function
maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair.
VDR Bsm

rs1544410

TT

+/+

VDR Bsm/Taq mediates an increase in dopamine production in response to Vitamin D (VDR is an abbreviation
for Vitamin D Receptor). The (+/+) form is less active, so you tend to be low in dopamine. Methyl status will be
low also, so you will be less sensitive to supplementation with methyl groups.I have (+/+), which read with my
normal V158M gene means that I have low vitamin D levels, poor tolerance to toxins and microbes, make less
dopamine and need and tolerate more methyl donors.
***
CELIAC DISEASE/GLUTEN INTOLERANCE
Gene & Variation
HLA

rsID #
rs2858331

Risk Allele
G

Your Alleles & Results


AG

+/-

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My genetics

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DETOX
Gene & Variation
HLA DQA1

rsID #
rs2187668

Risk Allele
T

Your Alleles & Results


CC

-/-

***
THYROID
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

CTLA4

rs231775

AA

-/-

FOXE1

rs1867277

GG

-/-

FOXE1

rs7043516

AA

-/-

FOXE1

rs10984009

GG

-/-

***
EYE HEALTH
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

BCMO1

rs4889294

CT

+/-

BCMO1 R267S

rs12934922

AT

+/-

BCMO1 A379V

rs7501331

CC

-/-

***
MITOCHONDRIAL FUNCTION
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

ATP5g3

rs185584

AA

-/-

ATP5g3

rs36089250

TT

-/-

ATP5c1

rs2778475

AG

+/-

ATP5c1

rs1244414

CC

-/-

ATP5c1

rs1244422

CT

+/-

ATP5c1

rs12770829

CT

+/-

ATP5c1

rs4655

CT

+/-

COX5A

rs8042694

AG

+/-

COX6C

rs4626565

TT

-/-

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My genetics

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

COX6C

rs7844439

CC

-/-

COX6C

rs4510829

GG

-/-

COX6C

rs1135382

GG

-/-

COX6C

rs7828241

AA

-/-

COX6C

rs12544943

AA

-/-

COX6C

rs4518636

TT

-/-

NDUFS3

rs2233354

TT

-/-

NDUFS3

rs4147730

AG

+/-

NDUFS3

rs4147731

GG

-/-

NDUFS7

rs2332496

AA

+/+

NDUFS7

rs7254913

AA

-/-

NDUFS7

rs1142530

TT

+/+

NDUFS7

rs7258846

TT

+/+

NDUFS7

rs11666067

AA

+/+

NDUFS7

rs2074895

AA

+/+

NDUFS7

rs809359

AA

-/-

NDUFS8

rs4147776

AA

-/-

NDUFS8

rs1122731

GG

-/-

NDUFS8

rs999571

GG

-/-

NDUFS8

rs2075626

TT

-/-

NDUFS8

rs3115546

TT

-/-

NDUFS8

rs1104739

AC

+/-

NDUFS8

rs1051806

CC

-/-

UQCRC2

rs6497563

CT

+/-

UQCRC2

rs4850

GG

-/-

UQCRC2

rs11648723

GG

-/-

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My genetics

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

UQCRC2

rs12922362

AC

+/-

UQCRC2

rs2965803

CC

-/-

***
OTHER IMMUNE FACTORS
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

4q27 Region

rs6822844

GG

-/-

APOE

rs429358

TT

-/-

ATG16L1

rs10210302

CT

+/-

GSDMB

rs7216389

CT

+/-

HLA-DRB1

rs660895

AA

-/-

IL5

rs2069812

AG

+/-

IL-13

rs20541

GG

-/-

IL4R Q576R

rs1801275

AA

-/-

MeFV A744S

i4000409

CC

-/-

MeFV E148Q

rs3743930

CC

-/-

MeFV F479L

i4000403

GG

-/-

MeFV K695R

i4000407

TT

-/-

MeFV M680I

rs28940580

CC

-/-

MeFV M694I

rs28940578

CC

-/-

MeFV M694V

i4000406

TT

-/-

MeFV P369S

rs11466023

GG

-/-

MeFV R761H

i4000410

CC

-/-

STAT4

rs10181656

CG

+/-

TNF -308

rs1800629

GG

-/-

TNF -238

rs361525

AG

+/-

TYR (MeFV) V726A

rs28940879

GG

-/-

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My genetics

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DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

rsID #

Risk Allele

Your Alleles & Results

***
SULFONOTRANSFERASE
Gene & Variation
SULT1A1

rs35728980

TT

-/-

SULT1A1

rs1801030

TT

-/-

SULT1A1

rs1042157

NO CALL

SULT1A1

rs36043491

CC

-/-

SULT1A1

rs60749306

TT

-/-

SULT1A1

rs9282862

TT

-/-

SULT1A1

rs1042008

GG

-/-

SULT1A1

rs2925627

TT

-/-

SULT1A1

rs2925631

TT

-/-

SULT1A1

rs3020800

AA

-/-

SULT1A1

rs4149385

CC

-/-

SULT1A1

rs60701883

CC

-/-

SULT1A1

rs4149381

TT

-/-

SULT1A1

rs8057055

CC

-/-

SULT1A1

rs6498090

GG

-/-

SULT1A1

rs7193599

AA

-/-

SULT1A1

rs7192559

CC

-/-

SULT1A3

rs1059667

TT

-/-

SULT2A1

rs296366

CC

-/-

SULT2A1

rs296365

GG

-/-

SULT2A1

rs11569679

CC

-/-

SULT2A1

rs4149452

CC

-/-

SULT2A1

rs8113396

AA

-/-

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My genetics

18 of 18

http://howirecovered.com/my-genetics/

DETOX
Gene & Variation

rsID #

Risk Allele

Your Alleles & Results

SULT2A1

rs2547242

TT

-/-

SULT2A1

rs2910393

CC

-/-

SULT2A1

rs4149449

CC

-/-

SULT2A1

rs2547231

AA

-/-

SULT2A1

rs4149448

AA

-/-

SULT2A1

rs11083907

GG

-/-

Some background information from Genetic Genie:


We have two copies of most of the genes we are born with one from our mother and one from our father. Genetic
Genie uses the SNPs (Single Nucleotide Polymorphisms) generated from your unique DNA sequence to determine
if one or both copies of your genes have a mutation at a specific location in a specific gene. If there are no
mutations present, your result will be displayed as (-/-). If one gene is mutated, the result will read (+/-). If both
copies have a mutation, the result is (+/+). Along with the (+/-) symbols, the colors on the table also denote the type
of mutation for visual comprehension. The color red indicates a homozygous (+/+) mutation, the color yellow
indicates a (+/-) heterozygous mutation and the color green (-/-) indicates that you dont carry the specific mutation.
The terms heterozygous and homozygous are used by geneticists to denote whether one or both copies of a gene
are mutated. Heterozygous mutations (+/-) may differ from homozygous mutations (+/+) in associated disease risk
since a person with a heterozygous mutation will often still have one fully functioning copy of the gene. It is also
important to understand that having a gene with a SNP mutation does not mean that the gene is defective or
nonfunctioning, only that it is working with an altered efficiency. Sometimes this means that it is working at a
decreased level, but it could also mean that it is functioning at a higher than normal efficiency, or that the gene is
lacking regulatory mechanisms normally involved in its expression.
Although mutations can occur at any time during our lifetime, it is most likely that we are born with these mutations
and will have them throughout our life. These inherited mutations have been passed down to us from previous
generations (our parents and grandparents) and may be passed to future generations (our children). This may
provide an explanation as to why certain traits or diseases run in the family.
Although we cannot change our genetic code, we can change how our genes are expressed. Research has
revealed that our gene expression is not determined solely by hereditary factors, but it is also influenced by our
diet, nutritional status, toxic load and environmental influences or stressors.

5/6/2016 1:43 PM

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