rs879254655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Familial Hypercholesterolemia |
(G;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs879254655(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11106576 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs879254655 |
dbSNP (classic) | rs879254655 |
ClinGen | rs879254655 |
ebi | rs879254655 |
HLI | rs879254655 |
Exac | rs879254655 |
Gnomad | rs879254655 |
Varsome | rs879254655 |
LitVar | rs879254655 |
Map | rs879254655 |
PheGenI | rs879254655 |
Biobank | rs879254655 |
1000 genomes | rs879254655 |
hgdp | rs879254655 |
ensembl | rs879254655 |
geneview | rs879254655 |
scholar | rs879254655 |
rs879254655 | |
pharmgkb | rs879254655 |
gwascentral | rs879254655 |
openSNP | rs879254655 |
23andMe | rs879254655 |
SNPshot | rs879254655 |
SNPdbe | rs879254655 |
MSV3d | rs879254655 |
GWAS Ctlg | rs879254655 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs879254655(C;C) rs879254655(G;G) |
Alt | rs879254655(C;C) rs879254655(G;G) |
Reference | Rs879254655(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11217252T>C; NC_000019.9:g.11217252T>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237732.1, RCV000417291.1, |