rs2853579
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2853579(A;A) |
Make rs2853579(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 104828991 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs2853579 |
dbSNP (classic) | rs2853579 |
ClinGen | rs2853579 |
ebi | rs2853579 |
HLI | rs2853579 |
Exac | rs2853579 |
Gnomad | rs2853579 |
Varsome | rs2853579 |
LitVar | rs2853579 |
Map | rs2853579 |
PheGenI | rs2853579 |
Biobank | rs2853579 |
1000 genomes | rs2853579 |
hgdp | rs2853579 |
ensembl | rs2853579 |
geneview | rs2853579 |
scholar | rs2853579 |
rs2853579 | |
pharmgkb | rs2853579 |
gwascentral | rs2853579 |
openSNP | rs2853579 |
23andMe | rs2853579 |
SNPshot | rs2853579 |
SNPdbe | rs2853579 |
MSV3d | rs2853579 |
GWAS Ctlg | rs2853579 |
Merged from | Rs7031748 |
GMAF | 0.3531 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2853579(A;A) |
Alt | rs2853579(A;A) |
Reference | Rs2853579(C;C) |
Significance | Non-pathogenic |
Disease | Tangier disease Familial High Density Lipoprotein Deficiency |
Variation | info |
Gene | ABCA1 |
CLNDBN | Tangier disease Familial High Density Lipoprotein Deficiency |
Reversed | 1 |
HGVS | NC_000009.11:g.107591272G>T |
CLNSRC | |
CLNACC | RCV000300380.1, RCV000395968.1, |