rs886039839
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886039839(A;A) |
Make rs886039839(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 55040022 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs886039839 |
dbSNP (classic) | rs886039839 |
ClinGen | rs886039839 |
ebi | rs886039839 |
HLI | rs886039839 |
Exac | rs886039839 |
Gnomad | rs886039839 |
Varsome | rs886039839 |
LitVar | rs886039839 |
Map | rs886039839 |
PheGenI | rs886039839 |
Biobank | rs886039839 |
1000 genomes | rs886039839 |
hgdp | rs886039839 |
ensembl | rs886039839 |
geneview | rs886039839 |
scholar | rs886039839 |
rs886039839 | |
pharmgkb | rs886039839 |
gwascentral | rs886039839 |
openSNP | rs886039839 |
23andMe | rs886039839 |
SNPshot | rs886039839 |
SNPdbe | rs886039839 |
MSV3d | rs886039839 |
GWAS Ctlg | rs886039839 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039839(A;A) |
Alt | rs886039839(A;A) |
Reference | Rs886039839(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000001.10:g.55505695C>A |
CLNSRC | Instituto Nacional de Saúde Doutor Ricardo Jorge |
CLNACC | RCV000256310.1, |