rs363717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs363717(A;A) |
Make rs363717(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104782419 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs363717 |
dbSNP (classic) | rs363717 |
ClinGen | rs363717 |
ebi | rs363717 |
HLI | rs363717 |
Exac | rs363717 |
Gnomad | rs363717 |
Varsome | rs363717 |
LitVar | rs363717 |
Map | rs363717 |
PheGenI | rs363717 |
Biobank | rs363717 |
1000 genomes | rs363717 |
hgdp | rs363717 |
ensembl | rs363717 |
geneview | rs363717 |
scholar | rs363717 |
rs363717 | |
pharmgkb | rs363717 |
gwascentral | rs363717 |
openSNP | rs363717 |
23andMe | rs363717 |
SNPshot | rs363717 |
SNPdbe | rs363717 |
MSV3d | rs363717 |
GWAS Ctlg | rs363717 |
GMAF | 0.1515 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 21245421] Genetic Factors Underlying the Risk of Thalidomide-Related Neuropathy in Patients With Multiple Myeloma
[PMID 17685456] Examining the effect of linkage disequilibrium between markers on the Type I error rate and power of nonparametric multipoint linkage analysis of two-generation and multigenerational pedigrees in the presence of missing genotype data.
[PMID 19606474] A survey of ABCA1 sequence variation confirms association with dementia.
[PMID 26722555] Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.
ClinVar | |
---|---|
Risk | rs363717(A;A) |
Alt | rs363717(A;A) |
Reference | Rs363717(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.107544700C>T |
CLNSRC | |
CLNACC | RCV000296142.1, RCV000394913.1, |