rs369943481
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common in clinvar |
Make rs369943481(C;T) |
Make rs369943481(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11120454 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs369943481 |
dbSNP (classic) | rs369943481 |
ClinGen | rs369943481 |
ebi | rs369943481 |
HLI | rs369943481 |
Exac | rs369943481 |
Gnomad | rs369943481 |
Varsome | rs369943481 |
LitVar | rs369943481 |
Map | rs369943481 |
PheGenI | rs369943481 |
Biobank | rs369943481 |
1000 genomes | rs369943481 |
hgdp | rs369943481 |
ensembl | rs369943481 |
geneview | rs369943481 |
scholar | rs369943481 |
rs369943481 | |
pharmgkb | rs369943481 |
gwascentral | rs369943481 |
openSNP | rs369943481 |
23andMe | rs369943481 |
SNPshot | rs369943481 |
SNPdbe | rs369943481 |
MSV3d | rs369943481 |
GWAS Ctlg | rs369943481 |
Max Magnitude | 5 |
aka c.2072C>T (p.Ser691Leu)
ClinVar | |
---|---|
Risk | rs369943481(A;A) rs369943481(T;T) |
Alt | rs369943481(A;A) rs369943481(T;T) |
Reference | Rs369943481(C;C) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11231130C>A; NC_000019.9:g.11231130C>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238487.1, RCV000455095.1, |