|
rs1001179
|
CAT
-262C>T
|
Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...
|
Methylation & Detox
|
|
Strong
|
|
rs1049255
|
CYBA
CYBA 3'UTR A640G
|
3'UTR variant in the NADPH oxidase p22-phox subunit affecting superoxide gene...
|
Vascular Inflammation & Remodeling
|
|
Moderate
|
|
rs11235972
|
UCP3
|
Intronic UCP3 variant associated with skeletal muscle fat oxidation capacity,...
|
Liver Fat
|
|
Moderate
|
|
rs1021737
|
CTH
CTH Ser403Ile
|
Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfura...
|
Blood Pressure & Hypertension
|
|
Moderate
|
|
rs1136410
|
PARP1
Val762Ala
|
Missense variant in the PARP1 catalytic domain that reduces enzymatic activit...
|
Longevity & Aging
|
|
Strong
|
|
rs1050450
|
GPX1
Pro198Leu
|
Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the...
|
Methylation & Detox
|
|
Strong
|
|
rs11555236
|
SIRT3
|
Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele incre...
|
Longevity & Aging
|
|
Moderate
|
|
rs12206094
|
FOXO3
|
Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1...
|
Longevity & Aging
|
|
Strong
|
|
rs12212067
|
FOXO3
|
Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...
|
Longevity & Aging
|
|
Strong
|
|
rs12704795
|
PON2
PON2 intron 1 variant
|
Intronic PON2 haplotype tag; the A allele is associated with reduced intracel...
|
Vascular Inflammation & Remodeling
|
|
Moderate
|
|
rs1154404
|
ADH5
ADH5 Asthma Risk Haplotype Variant
|
Intronic variant in ADH5 (GSNOR) in near-complete LD (r²=0.99) with adjacent ...
|
Allergy & Atopic Disease
|
|
Moderate
|
|
rs13181
|
ERCC2
Lys751Gln
|
Missense variant in the XPD helicase that reduces nucleotide excision repair ...
|
Longevity & Aging
|
|
Strong
|
|
rs1805007
|
MC1R
R151C
|
Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from ph...
|
Skin & Eyes
|
|
Established
|
|
rs13217795
|
FOXO3
|
Original 2008 Willcox longevity discovery variant; C allele tags the protecti...
|
Longevity & Aging
|
|
Strong
|
|
rs2075674
|
TFR2
TFR2 Ala617 variant
|
Synonymous coding variant in transferrin receptor 2 with potential splice-mod...
|
Iron & Mineral Transport
|
|
Emerging
|
|
rs2278651
|
SLC30A1
ZnT1 variant
|
Intronic variant in SLC30A1 (ZnT1), the primary plasma-membrane zinc efflux t...
|
Iron & Mineral Transport
|
|
Emerging
|
|
rs1138272
|
GSTP1
Ala114Val
|
Second functional variant in glutathione S-transferase Pi 1, reducing enzyme ...
|
Methylation & Detox
|
|
Moderate
|
|
rs11931074
|
SNCA
|
SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mR...
|
Neurology & Cognition
|
|
Strong
|
|
rs2251780
|
GSR
|
Intronic variant in the glutathione reductase gene affecting antioxidant defe...
|
Vitamins & Nutrient Absorption
|
|
Emerging
|
|
rs12598836
|
HMOX2
|
Intronic variant near heme oxygenase 2 (HMOX2) associated with migraine-with-...
|
Neurology & Cognition
|
|
Moderate
|
|
rs1935949
|
FOXO3
|
Second independent FOXO3 longevity signal tagging a distinct intronic haploty...
|
Longevity & Aging
|
|
Moderate
|
|
rs482843
|
CTH
|
Intronic CTH variant where GG homozygotes show significantly elevated preecla...
|
Blood Pressure & Hypertension
|
|
Moderate
|
|
rs1937
|
TFAM
S12T
|
Missense variant in the TFAM mitochondrial targeting sequence — the C allele ...
|
Longevity & Aging
|
|
Moderate
|
|
rs1800624
|
AGER
-374T/A
|
Promoter variant in the AGER gene that increases RAGE transcription approxima...
|
Hormones & Sleep
|
|
Moderate
|
|
rs1800625
|
AGER
AGER -429T>C
|
Promoter variant at position -429 in the AGER gene that increases RAGE transc...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3805435
|
TNIP1
|
Intronic variant in the GPX3/TNIP1 regulatory locus on chromosome 5; the C al...
|
Psoriasis & Spondyloarthropathy
|
|
Moderate
|
|
rs2153960
|
FOXO3
|
Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-...
|
Longevity & Aging
|
|
Moderate
|
|
rs2237583
|
PON1
PON1 intron variant
|
Intronic PON1 variant that modulates arylesterase activity of the HDL-bound a...
|
Vascular Inflammation & Remodeling
|
|
Moderate
|
|
rs2253310
|
FOXO3
|
Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ...
|
Longevity & Aging
|
|
Moderate
|
|
rs3877899
|
SELENOP
Ala234Thr
|
Missense variant in selenoprotein P that alters selenium transport capacity; ...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs547025
|
SIRT3
|
Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate...
|
Endometriosis & Uterine Health
|
|
Moderate
|
|
rs1695
|
GSTP1
Ile105Val
|
Phase II detoxification enzyme that conjugates glutathione to carcinogens, dr...
|
Methylation & Detox
|
|
Strong
|
|
rs17309872
|
GSS
|
Downstream regulatory variant of glutathione synthetase (GSS) associated with...
|
Methylation & Detox
|
|
Moderate
|
|
rs2228001
|
XPC
Lys939Gln
|
Missense variant in the DNA damage recognition gene XPC that reduces global-g...
|
Fitness & Body
|
|
Strong
|
|
rs2070600
|
AGER
Gly82Ser
|
Missense variant in the AGER pattern-recognition receptor that reduces solubl...
|
Hormones & Sleep
|
|
Strong
|
|
rs6757908
|
EIF2AK3-AS1
|
Rare intronic variant in EIF2AK3-AS1, an antisense long non-coding RNA that r...
|
Endometriosis & Uterine Health
|
|
Emerging
|
|
rs2031920
|
CYP2E1
*5B (RsaI)
|
Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f...
|
Pharmacogenomics
|
|
Moderate
|
|
rs1800566
|
NQO1
Pro187Ser (C609T)
|
Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to it...
|
Methylation & Detox
|
|
Strong
|
|
rs2764264
|
FOXO3
|
Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...
|
Longevity & Aging
|
|
Strong
|
|
rs2779249
|
NOS2
Promoter -1026C/A
|
Functional promoter variant that increases iNOS transcriptional activity up t...
|
Longevity & Aging
|
|
Moderate
|
|
rs4729189
|
PON2
|
Intronic PON2 variant associated with variation in serum paraoxonase activity...
|
Vascular Inflammation & Remodeling
|
|
Emerging
|
|
rs2802292
|
FOXO3
|
Longevity-associated intronic enhancer variant with 1.9-fold increased probab...
|
Longevity & Aging
|
|
Established
|
|
rs705379
|
PON1
PON1 promoter -108C>T
|
Promoter polymorphism that controls PON1 gene expression — the T allele (A on...
|
Vascular Inflammation & Remodeling
|
|
Strong
|
|
rs854555
|
PON1
PON1 3'UTR variant
|
Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activ...
|
Vascular Inflammation & Remodeling
|
|
Emerging
|
|
rs854571
|
PON1
PON1 -108C>T promoter variant
|
Promoter variant that controls PON1 transcription; the T allele reduces PON1 ...
|
Vascular Inflammation & Remodeling
|
|
Strong
|
|
rs3758391
|
SIRT1
|
Promoter-region variant in SIRT1 affecting deacetylase expression; T allele e...
|
Longevity & Aging
|
|
Moderate
|
|
rs854572
|
PON1
PON1 promoter -909G>C
|
Promoter polymorphism that modulates PON1 gene expression level — the G allel...
|
Vascular Inflammation & Remodeling
|
|
Moderate
|
|
rs887829
|
UGT1A1
UGT1A1*80
|
Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T ...
|
Vascular Inflammation & Remodeling
|
|
Strong
|
|
rs4946935
|
FOXO3
|
Functionally validated FOXO3 intronic variant that creates an SRF binding sit...
|
Longevity & Aging
|
|
Strong
|
|
rs659366
|
UCP2
|
Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupl...
|
Longevity & Aging
|
|
Moderate
|
|
rs2583988
|
SNCA
|
SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA...
|
Neurology & Cognition
|
|
Emerging
|
|
rs6721961
|
NFE2L2
|
Promoter variant reducing NRF2 transcriptional activity by >50%, impairing th...
|
Longevity & Aging
|
|
Moderate
|
|
rs2736990
|
SNCA
|
Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and...
|
Neurology & Cognition
|
|
Strong
|
|
rs366631
|
GSTM1
Tag SNP for gene deletion
|
Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomi...
|
Methylation & Detox
|
|
Strong
|
|
rs4746
|
GLO1
Glu111Ala
|
Missense variant in glyoxalase 1 reducing enzyme activity, allowing methylgly...
|
Hormones & Sleep
|
|
Moderate
|
|
rs7895833
|
SIRT1
A>G
|
Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and ...
|
Longevity & Aging
|
|
Moderate
|
|
rs356182
|
SNCA
|
Parkinson's disease GWAS risk variant affecting alpha-synuclein expression an...
|
Neurology & Cognition
|
|
Strong
|
|
rs356219
|
SNCA
|
SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression...
|
Neurology & Cognition
|
|
Strong
|
|
rs5030868
|
G6PD
G6PD Mediterranean
|
Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ...
|
Blood Sugar & Diabetes
|
|
Established
|
|
rs2851301
|
ADH5
ADH5 Second NF-kB Site Variant
|
Upstream promoter variant in ADH5 at a potential NF-kB binding site; the mino...
|
Allergy & Atopic Disease
|
|
Emerging
|
|
rs28730619
|
ADH5
|
Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma ri...
|
Allergy & Atopic Disease
|
|
Moderate
|
|
rs4880
|
SOD2
Val16Ala
|
Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxif...
|
Methylation & Detox
|
|
Strong
|
|
rs76723693
|
G6PD
G6PD Nefza (c.968T>C)
|
Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ...
|
Blood Sugar & Diabetes
|
|
Strong
|