rs143275858
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143275858(A;A) |
Make rs143275858(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 55058106 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs143275858 |
dbSNP (classic) | rs143275858 |
ClinGen | rs143275858 |
ebi | rs143275858 |
HLI | rs143275858 |
Exac | rs143275858 |
Gnomad | rs143275858 |
Varsome | rs143275858 |
LitVar | rs143275858 |
Map | rs143275858 |
PheGenI | rs143275858 |
Biobank | rs143275858 |
1000 genomes | rs143275858 |
hgdp | rs143275858 |
ensembl | rs143275858 |
geneview | rs143275858 |
scholar | rs143275858 |
rs143275858 | |
pharmgkb | rs143275858 |
gwascentral | rs143275858 |
openSNP | rs143275858 |
23andMe | rs143275858 |
SNPshot | rs143275858 |
SNPdbe | rs143275858 |
MSV3d | rs143275858 |
GWAS Ctlg | rs143275858 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143275858(A;A) |
Alt | rs143275858(A;A) |
Reference | Rs143275858(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia Hypercholesterolemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | Familial hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.55523779C>A |
CLNSRC | The University of Western Ontario |
CLNACC | RCV000408779.1, RCV000417285.1, |