rs150644181
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150644181(C;G) |
Make rs150644181(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11100320 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs150644181 |
dbSNP (classic) | rs150644181 |
ClinGen | rs150644181 |
ebi | rs150644181 |
HLI | rs150644181 |
Exac | rs150644181 |
Gnomad | rs150644181 |
Varsome | rs150644181 |
LitVar | rs150644181 |
Map | rs150644181 |
PheGenI | rs150644181 |
Biobank | rs150644181 |
1000 genomes | rs150644181 |
hgdp | rs150644181 |
ensembl | rs150644181 |
geneview | rs150644181 |
scholar | rs150644181 |
rs150644181 | |
pharmgkb | rs150644181 |
gwascentral | rs150644181 |
openSNP | rs150644181 |
23andMe | rs150644181 |
SNPshot | rs150644181 |
SNPdbe | rs150644181 |
MSV3d | rs150644181 |
GWAS Ctlg | rs150644181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150644181(G;G) rs150644181(T;T) |
Alt | rs150644181(G;G) rs150644181(T;T) |
Reference | Rs150644181(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11210996C>G |
CLNSRC | The University of Western Ontario |
CLNACC | RCV000408777.1, |