Lurp

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


rs4147730

Hard Link
rs4147730 is a snp on gene NDUFS3 (NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase))

GeneNDUFS3 Chromosome number 11 Chromosome position 47583875
Alleles A/G Minor Allele A Minor Allele Frequency 0.2248
Notation Clinical significance Orientation (dbSNP) + (positive/forward strand)
Gene Function
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.   One of several (NADH):ubiquinone oxidoreductases Research dates span between 1951 and 1999 citing mitochondrial encephalopathies, Leigh Syndrome with cardiomyopathy and catarracts and early death. PMID: 10330338
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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