rs146651743
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common/normal |
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs146651743(C;T) |
Make rs146651743(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11107402 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs146651743 |
dbSNP (classic) | rs146651743 |
ClinGen | rs146651743 |
ebi | rs146651743 |
HLI | rs146651743 |
Exac | rs146651743 |
Gnomad | rs146651743 |
Varsome | rs146651743 |
LitVar | rs146651743 |
Map | rs146651743 |
PheGenI | rs146651743 |
Biobank | rs146651743 |
1000 genomes | rs146651743 |
hgdp | rs146651743 |
ensembl | rs146651743 |
geneview | rs146651743 |
scholar | rs146651743 |
rs146651743 | |
pharmgkb | rs146651743 |
gwascentral | rs146651743 |
openSNP | rs146651743 |
23andMe | rs146651743 |
SNPshot | rs146651743 |
SNPdbe | rs146651743 |
MSV3d | rs146651743 |
GWAS Ctlg | rs146651743 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs146651743(A;A) rs146651743(G;G) rs146651743(T;T) |
Alt | rs146651743(A;A) rs146651743(G;G) rs146651743(T;T) |
Reference | Rs146651743(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11218078C>A; NC_000019.9:g.11218078C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000172961.2, RCV000237617.1, |