rs879254834
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Familial Hypercholesterolemia |
(A;T) | 5 | Familial Hypercholesterolemia |
Make rs879254834(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11113301 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs879254834 |
dbSNP (classic) | rs879254834 |
ClinGen | rs879254834 |
ebi | rs879254834 |
HLI | rs879254834 |
Exac | rs879254834 |
Gnomad | rs879254834 |
Varsome | rs879254834 |
LitVar | rs879254834 |
Map | rs879254834 |
PheGenI | rs879254834 |
Biobank | rs879254834 |
1000 genomes | rs879254834 |
hgdp | rs879254834 |
ensembl | rs879254834 |
geneview | rs879254834 |
scholar | rs879254834 |
rs879254834 | |
pharmgkb | rs879254834 |
gwascentral | rs879254834 |
openSNP | rs879254834 |
23andMe | rs879254834 |
SNPshot | rs879254834 |
SNPdbe | rs879254834 |
MSV3d | rs879254834 |
GWAS Ctlg | rs879254834 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs879254834(C;C) |
Alt | rs879254834(C;C) |
Reference | Rs879254834(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11223977A>C |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238140.1, |