rs730882110
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs730882110(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11120197 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs730882110 |
dbSNP (classic) | rs730882110 |
ClinGen | rs730882110 |
ebi | rs730882110 |
HLI | rs730882110 |
Exac | rs730882110 |
Gnomad | rs730882110 |
Varsome | rs730882110 |
LitVar | rs730882110 |
Map | rs730882110 |
PheGenI | rs730882110 |
Biobank | rs730882110 |
1000 genomes | rs730882110 |
hgdp | rs730882110 |
ensembl | rs730882110 |
geneview | rs730882110 |
scholar | rs730882110 |
rs730882110 | |
pharmgkb | rs730882110 |
gwascentral | rs730882110 |
openSNP | rs730882110 |
23andMe | rs730882110 |
SNPshot | rs730882110 |
SNPdbe | rs730882110 |
MSV3d | rs730882110 |
GWAS Ctlg | rs730882110 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs730882110(A;A) rs730882110(T;T) |
Alt | rs730882110(A;A) rs730882110(T;T) |
Reference | Rs730882110(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.11230873G>A; NC_000019.9:g.11230873G>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000162005.1, RCV000238255.1, RCV000237448.1, |