rs377271627
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs377271627(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 11102769 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs377271627 |
dbSNP (classic) | rs377271627 |
ClinGen | rs377271627 |
ebi | rs377271627 |
HLI | rs377271627 |
Exac | rs377271627 |
Gnomad | rs377271627 |
Varsome | rs377271627 |
LitVar | rs377271627 |
Map | rs377271627 |
PheGenI | rs377271627 |
Biobank | rs377271627 |
1000 genomes | rs377271627 |
hgdp | rs377271627 |
ensembl | rs377271627 |
geneview | rs377271627 |
scholar | rs377271627 |
rs377271627 | |
pharmgkb | rs377271627 |
gwascentral | rs377271627 |
openSNP | rs377271627 |
23andMe | rs377271627 |
SNPshot | rs377271627 |
SNPdbe | rs377271627 |
MSV3d | rs377271627 |
GWAS Ctlg | rs377271627 |
Max Magnitude | 5 |
aka c.296C>G, p.Ser99Ter or S99X
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
ClinVar | |
---|---|
Risk | rs377271627(G;G) |
Alt | rs377271627(G;G) |
Reference | Rs377271627(C;C) |
Significance | Pathogenic |
Disease | Hypercholesterolaemia Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Hypercholesterolaemia Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11213445C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000148574.1, RCV000238369.1, |