rs769318035
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs769318035(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11105425 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs769318035 |
dbSNP (classic) | rs769318035 |
ClinGen | rs769318035 |
ebi | rs769318035 |
HLI | rs769318035 |
Exac | rs769318035 |
Gnomad | rs769318035 |
Varsome | rs769318035 |
LitVar | rs769318035 |
Map | rs769318035 |
PheGenI | rs769318035 |
Biobank | rs769318035 |
1000 genomes | rs769318035 |
hgdp | rs769318035 |
ensembl | rs769318035 |
geneview | rs769318035 |
scholar | rs769318035 |
rs769318035 | |
pharmgkb | rs769318035 |
gwascentral | rs769318035 |
openSNP | rs769318035 |
23andMe | rs769318035 |
SNPshot | rs769318035 |
SNPdbe | rs769318035 |
MSV3d | rs769318035 |
GWAS Ctlg | rs769318035 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs769318035(A;A) rs769318035(G;G) rs769318035(T;T) |
Alt | rs769318035(A;A) rs769318035(G;G) rs769318035(T;T) |
Reference | Rs769318035(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia not provided |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.11216101C>A; NC_000019.9:g.11216101C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237782.1, RCV000238354.2, RCV000478384.1, |