rs879254981
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Familial Hypercholesterolemia |
Make rs879254981(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11116188 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs879254981 |
dbSNP (classic) | rs879254981 |
ClinGen | rs879254981 |
ebi | rs879254981 |
HLI | rs879254981 |
Exac | rs879254981 |
Gnomad | rs879254981 |
Varsome | rs879254981 |
LitVar | rs879254981 |
Map | rs879254981 |
PheGenI | rs879254981 |
Biobank | rs879254981 |
1000 genomes | rs879254981 |
hgdp | rs879254981 |
ensembl | rs879254981 |
geneview | rs879254981 |
scholar | rs879254981 |
rs879254981 | |
pharmgkb | rs879254981 |
gwascentral | rs879254981 |
openSNP | rs879254981 |
23andMe | rs879254981 |
SNPshot | rs879254981 |
SNPdbe | rs879254981 |
MSV3d | rs879254981 |
GWAS Ctlg | rs879254981 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs879254981(T;T) |
Alt | rs879254981(T;T) |
Reference | Rs879254981(C;C) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11226864C>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238180.1, |