rs771917370
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Familial Hypercholesterolemia |
(C;T) | 5 | Familial Hypercholesterolemia |
Make rs771917370(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11105537 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs771917370 |
dbSNP (classic) | rs771917370 |
ClinGen | rs771917370 |
ebi | rs771917370 |
HLI | rs771917370 |
Exac | rs771917370 |
Gnomad | rs771917370 |
Varsome | rs771917370 |
LitVar | rs771917370 |
Map | rs771917370 |
PheGenI | rs771917370 |
Biobank | rs771917370 |
1000 genomes | rs771917370 |
hgdp | rs771917370 |
ensembl | rs771917370 |
geneview | rs771917370 |
scholar | rs771917370 |
rs771917370 | |
pharmgkb | rs771917370 |
gwascentral | rs771917370 |
openSNP | rs771917370 |
23andMe | rs771917370 |
SNPshot | rs771917370 |
SNPdbe | rs771917370 |
MSV3d | rs771917370 |
GWAS Ctlg | rs771917370 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs771917370(G;G) rs771917370(T;T) |
Alt | rs771917370(G;G) rs771917370(T;T) |
Reference | Rs771917370(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11216213C>G; NC_000019.9:g.11216213C>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238231.1, RCV000237464.1, |