rs781362878
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(C;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common in clinvar |
Make rs781362878(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113767 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs781362878 |
dbSNP (classic) | rs781362878 |
ClinGen | rs781362878 |
ebi | rs781362878 |
HLI | rs781362878 |
Exac | rs781362878 |
Gnomad | rs781362878 |
Varsome | rs781362878 |
LitVar | rs781362878 |
Map | rs781362878 |
PheGenI | rs781362878 |
Biobank | rs781362878 |
1000 genomes | rs781362878 |
hgdp | rs781362878 |
ensembl | rs781362878 |
geneview | rs781362878 |
scholar | rs781362878 |
rs781362878 | |
pharmgkb | rs781362878 |
gwascentral | rs781362878 |
openSNP | rs781362878 |
23andMe | rs781362878 |
SNPshot | rs781362878 |
SNPdbe | rs781362878 |
MSV3d | rs781362878 |
GWAS Ctlg | rs781362878 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs781362878(A;A) |
Alt | rs781362878(A;A) |
Reference | Rs781362878(G;G) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224443G>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237174.1, |