rs5933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs5933(C;T) |
Make rs5933(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113414 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs5933 |
dbSNP (classic) | rs5933 |
ClinGen | rs5933 |
ebi | rs5933 |
HLI | rs5933 |
Exac | rs5933 |
Gnomad | rs5933 |
Varsome | rs5933 |
LitVar | rs5933 |
Map | rs5933 |
PheGenI | rs5933 |
Biobank | rs5933 |
1000 genomes | rs5933 |
hgdp | rs5933 |
ensembl | rs5933 |
geneview | rs5933 |
scholar | rs5933 |
rs5933 | |
pharmgkb | rs5933 |
gwascentral | rs5933 |
openSNP | rs5933 |
23andMe | rs5933 |
SNPshot | rs5933 |
SNPdbe | rs5933 |
MSV3d | rs5933 |
GWAS Ctlg | rs5933 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs5933(G;G) rs5933(T;T) |
Alt | rs5933(G;G) rs5933(T;T) |
Reference | Rs5933(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224090C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238156.1, |