rs139361635
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs139361635(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11110735 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs139361635 |
dbSNP (classic) | rs139361635 |
ClinGen | rs139361635 |
ebi | rs139361635 |
HLI | rs139361635 |
Exac | rs139361635 |
Gnomad | rs139361635 |
Varsome | rs139361635 |
LitVar | rs139361635 |
Map | rs139361635 |
PheGenI | rs139361635 |
Biobank | rs139361635 |
1000 genomes | rs139361635 |
hgdp | rs139361635 |
ensembl | rs139361635 |
geneview | rs139361635 |
scholar | rs139361635 |
rs139361635 | |
pharmgkb | rs139361635 |
gwascentral | rs139361635 |
openSNP | rs139361635 |
23andMe | rs139361635 |
SNPshot | rs139361635 |
SNPdbe | rs139361635 |
MSV3d | rs139361635 |
GWAS Ctlg | rs139361635 |
Max Magnitude | 5 |
aka c.1024G>A, p.Asp342Asn or D342N
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
ClinVar | |
---|---|
Risk | rs139361635(A;A) rs139361635(T;T) |
Alt | rs139361635(A;A) rs139361635(T;T) |
Reference | Rs139361635(G;G) |
Significance | Other |
Disease | Hypercholesterolaemia not provided not specified Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Hypercholesterolaemia not provided not specified Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11221411G>A; NC_000019.9:g.11221411G>T |
CLNSRC | LDLR @ LOVD UniProtKB (protein) |
CLNACC | RCV000148580.1, RCV000162022.2, RCV000218676.1, RCV000238033.1, RCV000238495.1, RCV000454858.1, |