rs3808607
Orientation | plus |
Stabilized | plus |
Make rs3808607(G;G) |
Make rs3808607(G;T) |
Make rs3808607(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 58500365 |
Gene | CYP7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs3808607 |
dbSNP (classic) | rs3808607 |
ClinGen | rs3808607 |
ebi | rs3808607 |
HLI | rs3808607 |
Exac | rs3808607 |
Gnomad | rs3808607 |
Varsome | rs3808607 |
LitVar | rs3808607 |
Map | rs3808607 |
PheGenI | rs3808607 |
Biobank | rs3808607 |
1000 genomes | rs3808607 |
hgdp | rs3808607 |
ensembl | rs3808607 |
geneview | rs3808607 |
scholar | rs3808607 |
rs3808607 | |
pharmgkb | rs3808607 |
gwascentral | rs3808607 |
openSNP | rs3808607 |
23andMe | rs3808607 |
SNPshot | rs3808607 |
SNPdbe | rs3808607 |
MSV3d | rs3808607 |
GWAS Ctlg | rs3808607 |
GMAF | 0.45 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
[PMID 19850125] Common CYP7A1 Promoter Polymorphism Associated With Risk of Neuromyelitis Optica
[PMID 21346769] CYP7A1 genotypes and haplotypes associated with hypertension in an obese Han Chinese population
[PMID 16709249] Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene.
[PMID 18307386] Cholesterol 7alpha-hydrolase (CYP7A1) c.-278A>C promoter polymorphism in gallstone disease patients.
[PMID 20005541] CYP7A1 (-204 A>C; rs3808607 and -469 T>C; rs3824260) promoter polymorphisms and risk of gallbladder cancer in North Indian population.
[PMID 20884100] Promoter variant -204A > C of the cholesterol 7alpha-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.
[PMID 23354620] Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients
[PMID 23740208] Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population
[PMID 30354296] Interactions Between Regulatory Variants in CYP7A1 (Cholesterol 7α-Hydroxylase) Promoter and Enhancer Regions Regulate CYP7A1 Expression.
[PMID 32647408] Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.