rs879254678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Familial Hypercholesterolemia |
(A;T) | 5 | Familial Hypercholesterolemia |
Make rs879254678(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11106667 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs879254678 |
dbSNP (classic) | rs879254678 |
ClinGen | rs879254678 |
ebi | rs879254678 |
HLI | rs879254678 |
Exac | rs879254678 |
Gnomad | rs879254678 |
Varsome | rs879254678 |
LitVar | rs879254678 |
Map | rs879254678 |
PheGenI | rs879254678 |
Biobank | rs879254678 |
1000 genomes | rs879254678 |
hgdp | rs879254678 |
ensembl | rs879254678 |
geneview | rs879254678 |
scholar | rs879254678 |
rs879254678 | |
pharmgkb | rs879254678 |
gwascentral | rs879254678 |
openSNP | rs879254678 |
23andMe | rs879254678 |
SNPshot | rs879254678 |
SNPdbe | rs879254678 |
MSV3d | rs879254678 |
GWAS Ctlg | rs879254678 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs879254678(G;G) rs879254678(T;T) |
Alt | rs879254678(G;G) rs879254678(T;T) |
Reference | Rs879254678(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11217343A>G; NC_000019.9:g.11217343A>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237457.1, RCV000237769.1, |