rs779913921
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs779913921(A;A) |
Make rs779913921(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11116099 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs779913921 |
dbSNP (classic) | rs779913921 |
ClinGen | rs779913921 |
ebi | rs779913921 |
HLI | rs779913921 |
Exac | rs779913921 |
Gnomad | rs779913921 |
Varsome | rs779913921 |
LitVar | rs779913921 |
Map | rs779913921 |
PheGenI | rs779913921 |
Biobank | rs779913921 |
1000 genomes | rs779913921 |
hgdp | rs779913921 |
ensembl | rs779913921 |
geneview | rs779913921 |
scholar | rs779913921 |
rs779913921 | |
pharmgkb | rs779913921 |
gwascentral | rs779913921 |
openSNP | rs779913921 |
23andMe | rs779913921 |
SNPshot | rs779913921 |
SNPdbe | rs779913921 |
MSV3d | rs779913921 |
GWAS Ctlg | rs779913921 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs779913921(A;A) rs779913921(G;G) |
Alt | rs779913921(A;A) rs779913921(G;G) |
Reference | Rs779913921(T;T) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11226775T>G |
CLNSRC | |
CLNACC | RCV000211572.1, |