rs370777955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs370777955(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 11113643 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs370777955 |
dbSNP (classic) | rs370777955 |
ClinGen | rs370777955 |
ebi | rs370777955 |
HLI | rs370777955 |
Exac | rs370777955 |
Gnomad | rs370777955 |
Varsome | rs370777955 |
LitVar | rs370777955 |
Map | rs370777955 |
PheGenI | rs370777955 |
Biobank | rs370777955 |
1000 genomes | rs370777955 |
hgdp | rs370777955 |
ensembl | rs370777955 |
geneview | rs370777955 |
scholar | rs370777955 |
rs370777955 | |
pharmgkb | rs370777955 |
gwascentral | rs370777955 |
openSNP | rs370777955 |
23andMe | rs370777955 |
SNPshot | rs370777955 |
SNPdbe | rs370777955 |
MSV3d | rs370777955 |
GWAS Ctlg | rs370777955 |
Max Magnitude | 5 |
aka c.1467C>G or p.Tyr489Ter
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
ClinVar | |
---|---|
Risk | rs370777955(G;G) |
Alt | rs370777955(G;G) |
Reference | Rs370777955(C;C) |
Significance | Other |
Disease | Hypercholesterolaemia Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Hypercholesterolaemia Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224319C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000148575.1, RCV000238307.1, |