rs756039188
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common in clinvar |
Make rs756039188(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11089560 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs756039188 |
dbSNP (classic) | rs756039188 |
ClinGen | rs756039188 |
ebi | rs756039188 |
HLI | rs756039188 |
Exac | rs756039188 |
Gnomad | rs756039188 |
Varsome | rs756039188 |
LitVar | rs756039188 |
Map | rs756039188 |
PheGenI | rs756039188 |
Biobank | rs756039188 |
1000 genomes | rs756039188 |
hgdp | rs756039188 |
ensembl | rs756039188 |
geneview | rs756039188 |
scholar | rs756039188 |
rs756039188 | |
pharmgkb | rs756039188 |
gwascentral | rs756039188 |
openSNP | rs756039188 |
23andMe | rs756039188 |
SNPshot | rs756039188 |
SNPdbe | rs756039188 |
MSV3d | rs756039188 |
GWAS Ctlg | rs756039188 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs756039188(A;A) |
Alt | rs756039188(A;A) |
Reference | Rs756039188(G;G) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11200236G>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000227275.2, |