rs778849441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs778849441(C;T) |
Make rs778849441(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 55058538 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs778849441 |
dbSNP (classic) | rs778849441 |
ClinGen | rs778849441 |
ebi | rs778849441 |
HLI | rs778849441 |
Exac | rs778849441 |
Gnomad | rs778849441 |
Varsome | rs778849441 |
LitVar | rs778849441 |
Map | rs778849441 |
PheGenI | rs778849441 |
Biobank | rs778849441 |
1000 genomes | rs778849441 |
hgdp | rs778849441 |
ensembl | rs778849441 |
geneview | rs778849441 |
scholar | rs778849441 |
rs778849441 | |
pharmgkb | rs778849441 |
gwascentral | rs778849441 |
openSNP | rs778849441 |
23andMe | rs778849441 |
SNPshot | rs778849441 |
SNPdbe | rs778849441 |
MSV3d | rs778849441 |
GWAS Ctlg | rs778849441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778849441(G;G) rs778849441(T;T) |
Alt | rs778849441(G;G) rs778849441(T;T) |
Reference | Rs778849441(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Hypercholesterolemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | not specified Hypercholesterolemia, autosomal dominant, 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.55524211C>T |
CLNSRC | |
CLNACC | RCV000454751.1, RCV000460891.1, |