rs2066715
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs2066715(A;A) |
Make rs2066715(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104825752 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs2066715 |
dbSNP (classic) | rs2066715 |
ClinGen | rs2066715 |
ebi | rs2066715 |
HLI | rs2066715 |
Exac | rs2066715 |
Gnomad | rs2066715 |
Varsome | rs2066715 |
LitVar | rs2066715 |
Map | rs2066715 |
PheGenI | rs2066715 |
Biobank | rs2066715 |
1000 genomes | rs2066715 |
hgdp | rs2066715 |
ensembl | rs2066715 |
geneview | rs2066715 |
scholar | rs2066715 |
rs2066715 | |
pharmgkb | rs2066715 |
gwascentral | rs2066715 |
openSNP | rs2066715 |
23andMe | rs2066715 |
SNPshot | rs2066715 |
SNPdbe | rs2066715 |
MSV3d | rs2066715 |
GWAS Ctlg | rs2066715 |
Merged from | Rs28587567 |
GMAF | 0.1281 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 21247457] Genetic variant of V825I in the ATP-binding cassette transporter A1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations
[PMID 17430597] Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19606474] A survey of ABCA1 sequence variation confirms association with dementia.
[PMID 23355348] Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.
ClinVar | |
---|---|
Risk | rs2066715(A;A) |
Alt | rs2066715(A;A) |
Reference | Rs2066715(G;G) |
Significance | Non-pathogenic |
Disease | Familial High Density Lipoprotein Deficiency Tangier disease |
Variation | info |
Gene | ABCA1 |
CLNDBN | Familial High Density Lipoprotein Deficiency Tangier disease |
Reversed | 1 |
HGVS | NC_000009.11:g.107588033C>T |
CLNSRC | |
CLNACC | RCV000311949.1, RCV000371215.1, |