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Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


Rs1799983

Hard Link
is a snp on gene NOS3 (nitric oxide synthase 3 (endothelial cell))

GeneNOS3 Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation D298E, G894T, Glu298Asp Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant
Gene Function
NOS3 provides instructions for making a protein that produces nitric oxide (NO). This is a free radical, a molecule with a missing electron that can cause damage by oxidation when in excess inside the cells, but it is also essential for many functions within the body such as neurotransmitter function and helping the body deal with microbes and tumors. NOS3 is needed for normal urea cycle function and responsible for regulation of sulfate production for lipid oxidation sparing membrane-bound cholesterol sulfate vs. nitric oxide production in acute infection. This enzyme is one of three similar types of protein that synthesize NO. The NO produced by NOS3 is known as endothelial NOS, or eNOS, and is mainly responsible for allowing the muscles of the blood vessels to relax. It is also important in cellular reproduction and in enabling the function of white blood cells and platelets. Other types of nitric oxide synthases, NOS1 (nNOS) and NOS2 (iNOS) are more specific to the nervous system and immune defense against pathogens. Impaired NO production is involved in the development of several diseases such as high blood pressure, pre-eclampsia, diabetes mellitus, obesity, erectile dysfunction, and migraine. Aluminum, mercury, lead and glyphosate may dysrupt endothelial Nitric oxide synthase function causing cellular injury by glycation or oxidative damage in cardiovascular disorders.
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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