rs13306512
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 rs13306512(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11107513 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs13306512 |
dbSNP (classic) | rs13306512 |
ClinGen | rs13306512 |
ebi | rs13306512 |
HLI | rs13306512 |
Exac | rs13306512 |
Gnomad | rs13306512 |
Varsome | rs13306512 |
LitVar | rs13306512 |
Map | rs13306512 |
PheGenI | rs13306512 |
Biobank | rs13306512 |
1000 genomes | rs13306512 |
hgdp | rs13306512 |
ensembl | rs13306512 |
geneview | rs13306512 |
scholar | rs13306512 |
rs13306512 | |
pharmgkb | rs13306512 |
gwascentral | rs13306512 |
openSNP | rs13306512 |
23andMe | rs13306512 |
SNPshot | rs13306512 |
SNPdbe | rs13306512 |
MSV3d | rs13306512 |
GWAS Ctlg | rs13306512 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs13306512(A;A) rs13306512(G;G) rs13306512(T;T) |
Alt | rs13306512(A;A) rs13306512(G;G) rs13306512(T;T) |
Reference | Rs13306512(C;C) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11218189C>A; NC_000019.9:g.11218189C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237235.2, RCV000237523.1, |