rs879255119
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs879255119(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11120427 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs879255119 |
dbSNP (classic) | rs879255119 |
ClinGen | rs879255119 |
ebi | rs879255119 |
HLI | rs879255119 |
Exac | rs879255119 |
Gnomad | rs879255119 |
Varsome | rs879255119 |
LitVar | rs879255119 |
Map | rs879255119 |
PheGenI | rs879255119 |
Biobank | rs879255119 |
1000 genomes | rs879255119 |
hgdp | rs879255119 |
ensembl | rs879255119 |
geneview | rs879255119 |
scholar | rs879255119 |
rs879255119 | |
pharmgkb | rs879255119 |
gwascentral | rs879255119 |
openSNP | rs879255119 |
23andMe | rs879255119 |
SNPshot | rs879255119 |
SNPdbe | rs879255119 |
MSV3d | rs879255119 |
GWAS Ctlg | rs879255119 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs879255119(C;C) |
Alt | rs879255119(C;C) |
Reference | Rs879255119(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11231103T>C |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237612.1, |