rs6720173
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs6720173(C;C) |
Make rs6720173(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 43813262 |
Gene | ABCG5, DYNC2LI1 |
is a | snp |
is | mentioned by |
dbSNP | rs6720173 |
dbSNP (classic) | rs6720173 |
ClinGen | rs6720173 |
ebi | rs6720173 |
HLI | rs6720173 |
Exac | rs6720173 |
Gnomad | rs6720173 |
Varsome | rs6720173 |
LitVar | rs6720173 |
Map | rs6720173 |
PheGenI | rs6720173 |
Biobank | rs6720173 |
1000 genomes | rs6720173 |
hgdp | rs6720173 |
ensembl | rs6720173 |
geneview | rs6720173 |
scholar | rs6720173 |
rs6720173 | |
pharmgkb | rs6720173 |
gwascentral | rs6720173 |
openSNP | rs6720173 |
23andMe | rs6720173 |
SNPshot | rs6720173 |
SNPdbe | rs6720173 |
MSV3d | rs6720173 |
GWAS Ctlg | rs6720173 |
GMAF | 0.2112 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 22655090] ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels
[PMID 15996216] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 19005228] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
[PMID 25920552] Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array
ClinVar | |
---|---|
Risk | rs6720173(C;C) |
Alt | rs6720173(C;C) |
Reference | Rs6720173(G;G) |
Significance | Non-pathogenic |
Disease | Sitosterolemia |
Variation | info |
Gene | DYNC2LI1 ABCG5 |
CLNDBN | Sitosterolemia |
Reversed | 0 |
HGVS | NC_000002.11:g.44040401G>C |
CLNSRC | |
CLNACC | RCV000318037.1, |