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rs1049255
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CYBA
CYBA 3'UTR A640G
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3'UTR variant in the NADPH oxidase p22-phox subunit affecting superoxide gene...
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Vascular Inflammation & Remodeling
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Moderate
|
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rs10918594
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NOS1AP
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Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval pro...
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Arrhythmia & Heart Rhythm
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Strong
|
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rs10483099
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QDPR
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Intronic variant near QDPR that affects BH4 recycling efficiency, influencing...
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Methylation & Detox
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Emerging
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rs10841496
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PDE3A
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5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affec...
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Blood Pressure & Hypertension
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Emerging
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rs2070699
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EDN1
EDN1 G2288T Intronic Variant
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Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...
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Blood Pressure & Hypertension
|
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Moderate
|
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rs1154404
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ADH5
ADH5 Asthma Risk Haplotype Variant
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Intronic variant in ADH5 (GSNOR) in near-complete LD (r²=0.99) with adjacent ...
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Allergy & Atopic Disease
|
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Moderate
|
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rs3918226
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NOS3
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NOS3 promoter variant that reduces eNOS expression and increases hypertension...
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Blood Pressure & Hypertension
|
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Strong
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rs4236601
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CAV1
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Intergenic variant near caveolin genes affecting primary open-angle glaucoma ...
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Skin & Eyes
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Strong
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rs12598836
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HMOX2
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Intronic variant near heme oxygenase 2 (HMOX2) associated with migraine-with-...
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Neurology & Cognition
|
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Moderate
|
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rs5068
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NPPA
|
3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...
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Blood Pressure & Hypertension
|
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Strong
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rs5335
|
EDNRA
|
3' UTR variant in the endothelin receptor type A gene associated with ambulat...
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Blood Pressure & Hypertension
|
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Moderate
|
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rs374304304
|
ASL
ASL Arg94Cys
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Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...
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Metabolic Enzymes & Rare Disorders
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|
Established
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rs841
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GCH1
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Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes...
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Blood Pressure & Hypertension
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Moderate
|
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rs1799983
|
NOS3
Glu298Asp
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Nitric oxide production - reduced activity increases cardiovascular risk and ...
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Methylation & Detox
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|
Established
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rs2779249
|
NOS2
Promoter -1026C/A
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Functional promoter variant that increases iNOS transcriptional activity up t...
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Longevity & Aging
|
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Moderate
|
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rs4855559
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MYH15
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Intronic variant in the myosin heavy chain 15 gene associated with impaired c...
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Cardiomyopathy & Structural Heart
|
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Emerging
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|
rs1808593
|
NOS3
|
Intronic NOS3 variant associated with ankle-brachial index and peripheral art...
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Methylation & Detox
|
|
Moderate
|
|
rs2070744
|
NOS3
T-786C promoter
|
NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide ...
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Methylation & Detox
|
|
Strong
|
|
rs2602899
|
ADH5
ADH5 Promoter NF-kB Variant
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Regulatory SNP in the ADH5 promoter at a potential NF-kB binding site; the pr...
|
Allergy & Atopic Disease
|
|
Moderate
|
|
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
|
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Emerging
|
|
rs28730619
|
ADH5
|
Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma ri...
|
Allergy & Atopic Disease
|
|
Moderate
|
|
rs891512
|
NOS3
|
Intronic NOS3 variant that alters splicing factor binding and is associated w...
|
Methylation & Detox
|
|
Moderate
|
|
rs8007267
|
GCH1
|
Promoter variant affecting GTP cyclohydrolase 1 expression and pain sensitivi...
|
Neurology & Cognition
|
|
Strong
|