rs752596535
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs752596535(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11105407 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs752596535 |
dbSNP (classic) | rs752596535 |
ClinGen | rs752596535 |
ebi | rs752596535 |
HLI | rs752596535 |
Exac | rs752596535 |
Gnomad | rs752596535 |
Varsome | rs752596535 |
LitVar | rs752596535 |
Map | rs752596535 |
PheGenI | rs752596535 |
Biobank | rs752596535 |
1000 genomes | rs752596535 |
hgdp | rs752596535 |
ensembl | rs752596535 |
geneview | rs752596535 |
scholar | rs752596535 |
rs752596535 | |
pharmgkb | rs752596535 |
gwascentral | rs752596535 |
openSNP | rs752596535 |
23andMe | rs752596535 |
SNPshot | rs752596535 |
SNPdbe | rs752596535 |
MSV3d | rs752596535 |
GWAS Ctlg | rs752596535 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs752596535(A;A) rs752596535(G;G) rs752596535(T;T) |
Alt | rs752596535(A;A) rs752596535(G;G) rs752596535(T;T) |
Reference | Rs752596535(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11216083C>A; NC_000019.9:g.11216083C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000211619.4, RCV000237146.1, |