rs730882096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common/normal |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs730882096(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 11110738 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs730882096 |
dbSNP (classic) | rs730882096 |
ClinGen | rs730882096 |
ebi | rs730882096 |
HLI | rs730882096 |
Exac | rs730882096 |
Gnomad | rs730882096 |
Varsome | rs730882096 |
LitVar | rs730882096 |
Map | rs730882096 |
PheGenI | rs730882096 |
Biobank | rs730882096 |
1000 genomes | rs730882096 |
hgdp | rs730882096 |
ensembl | rs730882096 |
geneview | rs730882096 |
scholar | rs730882096 |
rs730882096 | |
pharmgkb | rs730882096 |
gwascentral | rs730882096 |
openSNP | rs730882096 |
23andMe | rs730882096 |
SNPshot | rs730882096 |
SNPdbe | rs730882096 |
MSV3d | rs730882096 |
GWAS Ctlg | rs730882096 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs730882096(A;A) rs730882096(T;T) |
Alt | rs730882096(A;A) rs730882096(T;T) |
Reference | Rs730882096(G;G) |
Significance | Other |
Disease | not provided Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | not provided Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11221414G>A; NC_000019.9:g.11221414G>T |
CLNSRC | LDLR @ LOVD UniProtKB (protein) |
CLNACC | RCV000161977.1, RCV000211596.4, RCV000237974.1, |