rs886039829
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 3.1 | Hypercholesterolemia, Type B; heterozygote |
(A;A) | 0 | common in clinvar |
Make rs886039829(-;-) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 21002264 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs886039829 |
dbSNP (classic) | rs886039829 |
ClinGen | rs886039829 |
ebi | rs886039829 |
HLI | rs886039829 |
Exac | rs886039829 |
Gnomad | rs886039829 |
Varsome | rs886039829 |
LitVar | rs886039829 |
Map | rs886039829 |
PheGenI | rs886039829 |
Biobank | rs886039829 |
1000 genomes | rs886039829 |
hgdp | rs886039829 |
ensembl | rs886039829 |
geneview | rs886039829 |
scholar | rs886039829 |
rs886039829 | |
pharmgkb | rs886039829 |
gwascentral | rs886039829 |
openSNP | rs886039829 |
23andMe | rs886039829 |
SNPshot | rs886039829 |
SNPdbe | rs886039829 |
MSV3d | rs886039829 |
GWAS Ctlg | rs886039829 |
Max Magnitude | 3.1 |
aka c.13158delA
ClinVar | |
---|---|
Risk | rs886039829(-;-) |
Alt | rs886039829(-;-) |
Reference | Rs886039829(A;A) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | APOB |
CLNDBN | Familial hypercholesterolemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21225136delT |
CLNSRC | Instituto Nacional de Saúde Doutor Ricardo Jorge |
CLNACC | RCV000256308.1, |