rs764603059
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764603059(G;T) |
Make rs764603059(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 55039940 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs764603059 |
dbSNP (classic) | rs764603059 |
ClinGen | rs764603059 |
ebi | rs764603059 |
HLI | rs764603059 |
Exac | rs764603059 |
Gnomad | rs764603059 |
Varsome | rs764603059 |
LitVar | rs764603059 |
Map | rs764603059 |
PheGenI | rs764603059 |
Biobank | rs764603059 |
1000 genomes | rs764603059 |
hgdp | rs764603059 |
ensembl | rs764603059 |
geneview | rs764603059 |
scholar | rs764603059 |
rs764603059 | |
pharmgkb | rs764603059 |
gwascentral | rs764603059 |
openSNP | rs764603059 |
23andMe | rs764603059 |
SNPshot | rs764603059 |
SNPdbe | rs764603059 |
MSV3d | rs764603059 |
GWAS Ctlg | rs764603059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764603059(T;T) |
Alt | rs764603059(T;T) |
Reference | Rs764603059(G;G) |
Significance | Pathogenic |
Disease | Hypercholesterolemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | Hypercholesterolemia, autosomal dominant, 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.55505613G>T |
CLNSRC | |
CLNACC | RCV000417231.1, |