rs879255095
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Familial Hypercholesterolemia |
(A;G) | 5 | Familial Hypercholesterolemia |
Make rs879255095(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11120225 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs879255095 |
dbSNP (classic) | rs879255095 |
ClinGen | rs879255095 |
ebi | rs879255095 |
HLI | rs879255095 |
Exac | rs879255095 |
Gnomad | rs879255095 |
Varsome | rs879255095 |
LitVar | rs879255095 |
Map | rs879255095 |
PheGenI | rs879255095 |
Biobank | rs879255095 |
1000 genomes | rs879255095 |
hgdp | rs879255095 |
ensembl | rs879255095 |
geneview | rs879255095 |
scholar | rs879255095 |
rs879255095 | |
pharmgkb | rs879255095 |
gwascentral | rs879255095 |
openSNP | rs879255095 |
23andMe | rs879255095 |
SNPshot | rs879255095 |
SNPdbe | rs879255095 |
MSV3d | rs879255095 |
GWAS Ctlg | rs879255095 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs879255095(G;G) |
Alt | rs879255095(G;G) |
Reference | Rs879255095(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11230901A>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237382.1, |