rs141502002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs141502002(C;T) |
Make rs141502002(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 55058549 |
Gene | PCSK9 |
is a | snp |
is | mentioned by |
dbSNP | rs141502002 |
dbSNP (classic) | rs141502002 |
ClinGen | rs141502002 |
ebi | rs141502002 |
HLI | rs141502002 |
Exac | rs141502002 |
Gnomad | rs141502002 |
Varsome | rs141502002 |
LitVar | rs141502002 |
Map | rs141502002 |
PheGenI | rs141502002 |
Biobank | rs141502002 |
1000 genomes | rs141502002 |
hgdp | rs141502002 |
ensembl | rs141502002 |
geneview | rs141502002 |
scholar | rs141502002 |
rs141502002 | |
pharmgkb | rs141502002 |
gwascentral | rs141502002 |
openSNP | rs141502002 |
23andMe | rs141502002 |
SNPshot | rs141502002 |
SNPdbe | rs141502002 |
MSV3d | rs141502002 |
GWAS Ctlg | rs141502002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141502002(T;T) |
Alt | rs141502002(T;T) |
Reference | Rs141502002(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Hypercholesterolemia Familial hypercholesterolemia |
Variation | info |
Gene | PCSK9 |
CLNDBN | not specified Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000001.10:g.55524222C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000182576.2, RCV000228895.1, RCV000408878.1, |