rs564427867
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs564427867(A;A) |
Make rs564427867(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 55039931 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs564427867 |
dbSNP (classic) | rs564427867 |
ClinGen | rs564427867 |
ebi | rs564427867 |
HLI | rs564427867 |
Exac | rs564427867 |
Gnomad | rs564427867 |
Varsome | rs564427867 |
LitVar | rs564427867 |
Map | rs564427867 |
PheGenI | rs564427867 |
Biobank | rs564427867 |
1000 genomes | rs564427867 |
hgdp | rs564427867 |
ensembl | rs564427867 |
geneview | rs564427867 |
scholar | rs564427867 |
rs564427867 | |
pharmgkb | rs564427867 |
gwascentral | rs564427867 |
openSNP | rs564427867 |
23andMe | rs564427867 |
SNPshot | rs564427867 |
SNPdbe | rs564427867 |
MSV3d | rs564427867 |
GWAS Ctlg | rs564427867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs564427867(A;A) |
Alt | rs564427867(A;A) |
Reference | Rs564427867(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia Familial hypobetalipoproteinemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | Familial hypercholesterolemia Familial hypobetalipoproteinemia |
Reversed | 0 |
HGVS | NC_000001.10:g.55505604G>A |
CLNSRC | Illumina |
CLNACC | RCV000331053.1, RCV000370400.1, |