rs141155833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs141155833(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11120114 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs141155833 |
dbSNP (classic) | rs141155833 |
ClinGen | rs141155833 |
ebi | rs141155833 |
HLI | rs141155833 |
Exac | rs141155833 |
Gnomad | rs141155833 |
Varsome | rs141155833 |
LitVar | rs141155833 |
Map | rs141155833 |
PheGenI | rs141155833 |
Biobank | rs141155833 |
1000 genomes | rs141155833 |
hgdp | rs141155833 |
ensembl | rs141155833 |
geneview | rs141155833 |
scholar | rs141155833 |
rs141155833 | |
pharmgkb | rs141155833 |
gwascentral | rs141155833 |
openSNP | rs141155833 |
23andMe | rs141155833 |
SNPshot | rs141155833 |
SNPdbe | rs141155833 |
MSV3d | rs141155833 |
GWAS Ctlg | rs141155833 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs141155833(C;C) |
Alt | rs141155833(C;C) |
Reference | Rs141155833(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11230790T>C |
CLNSRC | The University of Western Ontario |
CLNACC | RCV000408811.1, |