rs139400379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common in clinvar |
Make rs139400379(C;T) |
Make rs139400379(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11102758 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs139400379 |
dbSNP (classic) | rs139400379 |
ClinGen | rs139400379 |
ebi | rs139400379 |
HLI | rs139400379 |
Exac | rs139400379 |
Gnomad | rs139400379 |
Varsome | rs139400379 |
LitVar | rs139400379 |
Map | rs139400379 |
PheGenI | rs139400379 |
Biobank | rs139400379 |
1000 genomes | rs139400379 |
hgdp | rs139400379 |
ensembl | rs139400379 |
geneview | rs139400379 |
scholar | rs139400379 |
rs139400379 | |
pharmgkb | rs139400379 |
gwascentral | rs139400379 |
openSNP | rs139400379 |
23andMe | rs139400379 |
SNPshot | rs139400379 |
SNPdbe | rs139400379 |
MSV3d | rs139400379 |
GWAS Ctlg | rs139400379 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs139400379(A;A) rs139400379(T;T) |
Alt | rs139400379(A;A) rs139400379(T;T) |
Reference | Rs139400379(C;C) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11213434C>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238158.1, |