rs758194385
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Familial Hypercholesterolemia |
Make rs758194385(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11116198 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs758194385 |
dbSNP (classic) | rs758194385 |
ClinGen | rs758194385 |
ebi | rs758194385 |
HLI | rs758194385 |
Exac | rs758194385 |
Gnomad | rs758194385 |
Varsome | rs758194385 |
LitVar | rs758194385 |
Map | rs758194385 |
PheGenI | rs758194385 |
Biobank | rs758194385 |
1000 genomes | rs758194385 |
hgdp | rs758194385 |
ensembl | rs758194385 |
geneview | rs758194385 |
scholar | rs758194385 |
rs758194385 | |
pharmgkb | rs758194385 |
gwascentral | rs758194385 |
openSNP | rs758194385 |
23andMe | rs758194385 |
SNPshot | rs758194385 |
SNPdbe | rs758194385 |
MSV3d | rs758194385 |
GWAS Ctlg | rs758194385 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs758194385(G;G) |
Alt | rs758194385(G;G) |
Reference | Rs758194385(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11226874A>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000210237.2, |