|
rs1799750
|
MMP1
1G/2G
|
Promoter polymorphism affecting MMP1 expression and collagen degradation rate...
|
Skin & Eyes
|
|
Strong
|
|
rs4646903
|
CYP1A1
*2A (MspI, T3801C)
|
Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene in...
|
Dental & Oral Health
|
|
Moderate
|
|
rs662
|
PON1
Q192R
|
Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and pr...
|
Heart & Inflammation
|
|
Moderate
|
|
rs6721961
|
NFE2L2
|
Promoter variant reducing NRF2 transcriptional activity by >50%, impairing th...
|
Longevity & Aging
|
|
Moderate
|
|
rs4680
|
COMT
Val158Met
|
Dopamine/catecholamine breakdown — affects stress response and methyl donor t...
|
Methylation & Detox
|
|
Established
|
|
rs234706
|
CBS
C699T
|
Common synonymous variant in the CBS gene associated with reduced cardiovascu...
|
Methylation & Detox
|
|
Moderate
|
|
rs671
|
ALDH2
*2
|
Alcohol metabolism - flush reaction and cancer risk
|
Pharmacogenomics
|
|
Established
|
|
rs2066853
|
AHR
Arg554Lys
|
Aryl hydrocarbon receptor variant in the transactivation domain that alters A...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2470890
|
CYP1A2
Asn516= (exon 7)
|
Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F hi...
|
Cancer Risk
|
|
Strong
|
|
rs819147
|
AHCY
|
Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...
|
Methylation & Detox
|
|
Moderate
|
|
rs2052129
|
AOC1 (DAO)
promoter variant
|
Histamine breakdown in gut - reduced activity means dietary histamine accumul...
|
Methylation & Detox
|
|
Strong
|
|
rs10156191
|
AOC1 (DAO)
Thr16Met
|
DAO structural variant affecting enzyme activity and histamine degradation
|
Methylation & Detox
|
|
Strong
|
|
rs1049793
|
AOC1 (DAO)
His645Asp
|
DAO structural variant near the catalytic domain affecting histamine degradation
|
Methylation & Detox
|
|
Strong
|
|
rs13181
|
ERCC2
Lys751Gln
|
Missense variant in the XPD helicase that reduces nucleotide excision repair ...
|
Longevity & Aging
|
|
Strong
|
|
rs1050891
|
HNMT
3'UTR variant
|
Histamine breakdown in blood and tissues - uses methyl groups from SAM
|
Methylation & Detox
|
|
Moderate
|
|
rs11558538
|
HNMT
Thr105Ile
|
HNMT structural variant - reduces enzyme stability and histamine clearance in...
|
Methylation & Detox
|
|
Strong
|
|
rs1799983
|
NOS3
Glu298Asp
|
Nitric oxide production - reduced activity increases cardiovascular risk and ...
|
Methylation & Detox
|
|
Established
|
|
rs2070744
|
NOS3
T-786C promoter
|
NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide ...
|
Methylation & Detox
|
|
Strong
|
|
rs1801280
|
NAT2
I114T
|
Phase II detoxification - acetylation of aromatic amines and certain medications
|
Methylation & Detox
|
|
Established
|
|
rs1799930
|
NAT2
R197Q
|
Slow acetylator variant affecting Phase II detoxification capacity
|
Methylation & Detox
|
|
Established
|
|
rs1208
|
NAT2
R268K
|
NAT2 acetylation speed tag SNP - marks rapid vs slow acetylator haplotypes
|
Methylation & Detox
|
|
Established
|
|
rs4880
|
SOD2
Val16Ala
|
Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxif...
|
Methylation & Detox
|
|
Strong
|
|
rs1050450
|
GPX1
Pro198Leu
|
Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the...
|
Methylation & Detox
|
|
Strong
|
|
rs1695
|
GSTP1
Ile105Val
|
Phase II detoxification enzyme that conjugates glutathione to carcinogens, dr...
|
Methylation & Detox
|
|
Strong
|
|
rs28929474
|
SERPINA1
Z allele (E342K)
|
Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...
|
Nutrition & Metabolism
|
|
Established
|
|
rs1138272
|
GSTP1
Ala114Val
|
Second functional variant in glutathione S-transferase Pi 1, reducing enzyme ...
|
Methylation & Detox
|
|
Moderate
|
|
rs366631
|
GSTM1
Tag SNP for gene deletion
|
Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomi...
|
Methylation & Detox
|
|
Strong
|
|
rs1800566
|
NQO1
Pro187Ser (C609T)
|
Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to it...
|
Methylation & Detox
|
|
Strong
|
|
rs1048943
|
CYP1A1
Ile462Val (*2C)
|
Phase I detoxification enzyme that activates polycyclic aromatic hydrocarbons...
|
Methylation & Detox
|
|
Strong
|
|
rs1056836
|
CYP1B1
Leu432Val
|
Phase I detoxification enzyme that hydroxylates estradiol to potentially geno...
|
Methylation & Detox
|
|
Moderate
|
|
rs1001179
|
CAT
-262C>T
|
Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...
|
Methylation & Detox
|
|
Strong
|
|
rs1229984
|
ADH1B
His48Arg
|
ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing r...
|
Brain & Mental Health
|
|
Established
|
|
rs71748309
|
GSTT1
Null (Gene Deletion)
|
Complete deletion of the GSTT1 gene eliminating glutathione conjugation capac...
|
Methylation & Detox
|
|
Strong
|
|
rs2066702
|
ADH1B
Arg370Cys
|
ADH1B*3 variant encoding a superactive alcohol dehydrogenase found almost exc...
|
Brain & Mental Health
|
|
Strong
|
|
rs1693482
|
ADH1C
Arg272Gln (ADH1C*1/*2)
|
ADH1C variant defining the fast (ADH1C*1, Arg272) vs slow (ADH1C*2, Gln272) a...
|
Brain & Mental Health
|
|
Strong
|
|
rs61735836
|
FTCD
|
Missense variant in the FTCD enzyme that impairs one-carbon unit transfer fro...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs234709
|
CBS
|
Intronic CBS variant that tags the CBS locus in GWAS studies; associated with...
|
Nutrition & Metabolism
|
|
Moderate
|