rs778738291
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs778738291(A;A) |
Make rs778738291(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 55044020 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs778738291 |
dbSNP (classic) | rs778738291 |
ClinGen | rs778738291 |
ebi | rs778738291 |
HLI | rs778738291 |
Exac | rs778738291 |
Gnomad | rs778738291 |
Varsome | rs778738291 |
LitVar | rs778738291 |
Map | rs778738291 |
PheGenI | rs778738291 |
Biobank | rs778738291 |
1000 genomes | rs778738291 |
hgdp | rs778738291 |
ensembl | rs778738291 |
geneview | rs778738291 |
scholar | rs778738291 |
rs778738291 | |
pharmgkb | rs778738291 |
gwascentral | rs778738291 |
openSNP | rs778738291 |
23andMe | rs778738291 |
SNPshot | rs778738291 |
SNPdbe | rs778738291 |
MSV3d | rs778738291 |
GWAS Ctlg | rs778738291 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778738291(A;A) |
Alt | rs778738291(A;A) |
Reference | Rs778738291(G;G) |
Significance | Probable-Pathogenic |
Disease | Hypercholesterolemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | Hypercholesterolemia, autosomal dominant, 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.55509693G>A |
CLNSRC | |
CLNACC | RCV000417258.1, |