rs531005522
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs531005522(C;G) |
Make rs531005522(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113530 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs531005522 |
dbSNP (classic) | rs531005522 |
ClinGen | rs531005522 |
ebi | rs531005522 |
HLI | rs531005522 |
Exac | rs531005522 |
Gnomad | rs531005522 |
Varsome | rs531005522 |
LitVar | rs531005522 |
Map | rs531005522 |
PheGenI | rs531005522 |
Biobank | rs531005522 |
1000 genomes | rs531005522 |
hgdp | rs531005522 |
ensembl | rs531005522 |
geneview | rs531005522 |
scholar | rs531005522 |
rs531005522 | |
pharmgkb | rs531005522 |
gwascentral | rs531005522 |
openSNP | rs531005522 |
23andMe | rs531005522 |
SNPshot | rs531005522 |
SNPdbe | rs531005522 |
MSV3d | rs531005522 |
GWAS Ctlg | rs531005522 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs531005522(G;G) |
Alt | rs531005522(G;G) |
Reference | Rs531005522(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224206C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238316.1, |