rs776421777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs776421777(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11100246 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs776421777 |
dbSNP (classic) | rs776421777 |
ClinGen | rs776421777 |
ebi | rs776421777 |
HLI | rs776421777 |
Exac | rs776421777 |
Gnomad | rs776421777 |
Varsome | rs776421777 |
LitVar | rs776421777 |
Map | rs776421777 |
PheGenI | rs776421777 |
Biobank | rs776421777 |
1000 genomes | rs776421777 |
hgdp | rs776421777 |
ensembl | rs776421777 |
geneview | rs776421777 |
scholar | rs776421777 |
rs776421777 | |
pharmgkb | rs776421777 |
gwascentral | rs776421777 |
openSNP | rs776421777 |
23andMe | rs776421777 |
SNPshot | rs776421777 |
SNPdbe | rs776421777 |
MSV3d | rs776421777 |
GWAS Ctlg | rs776421777 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs776421777(A;A) rs776421777(T;T) |
Alt | rs776421777(A;A) rs776421777(T;T) |
Reference | Rs776421777(G;G) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11210922G>A; NC_000019.9:g.11210922G>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237765.1, RCV000238408.1, |