rs201617272
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs201617272(A;A) |
Make rs201617272(A;G) |
Make rs201617272(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 5913 |
Gene | COX1 |
is a | snp |
is | mentioned by |
dbSNP | rs201617272 |
dbSNP (classic) | rs201617272 |
ClinGen | rs201617272 |
ebi | rs201617272 |
HLI | rs201617272 |
Exac | rs201617272 |
Gnomad | rs201617272 |
Varsome | rs201617272 |
LitVar | rs201617272 |
Map | rs201617272 |
PheGenI | rs201617272 |
Biobank | rs201617272 |
1000 genomes | rs201617272 |
hgdp | rs201617272 |
ensembl | rs201617272 |
geneview | rs201617272 |
scholar | rs201617272 |
rs201617272 | |
pharmgkb | rs201617272 |
gwascentral | rs201617272 |
openSNP | rs201617272 |
23andMe | rs201617272 |
SNPshot | rs201617272 |
SNPdbe | rs201617272 |
MSV3d | rs201617272 |
GWAS Ctlg | rs201617272 |
Max Magnitude | 0 |
rs201617272, also known as 5913G>A, Asp4Asn or D4N, is a SNP of the cytochrome c oxidase subunit 1 of respiratory complex IV gene, located in the mitochondrial genome.
It has been linked in Caucasian populations to hypertension based on a study of the Framingham cohort. Individuals with the rare rs201617272(A) allele had, on average, 7 mm Hg higher systolic blood pressure (BP) at baseline (p = 0.05) and 17 mg/dL higher mean FBG over 25 years of follow up (p = 0.009).[PMID 22949535]