rs139617694
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Dominant mutation associated with Familial Hypercholesterolemia |
(G;G) | 0 | common in clinvar |
Make rs139617694(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 11113534 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs139617694 |
dbSNP (classic) | rs139617694 |
ClinGen | rs139617694 |
ebi | rs139617694 |
HLI | rs139617694 |
Exac | rs139617694 |
Gnomad | rs139617694 |
Varsome | rs139617694 |
LitVar | rs139617694 |
Map | rs139617694 |
PheGenI | rs139617694 |
Biobank | rs139617694 |
1000 genomes | rs139617694 |
hgdp | rs139617694 |
ensembl | rs139617694 |
geneview | rs139617694 |
scholar | rs139617694 |
rs139617694 | |
pharmgkb | rs139617694 |
gwascentral | rs139617694 |
openSNP | rs139617694 |
23andMe | rs139617694 |
SNPshot | rs139617694 |
SNPdbe | rs139617694 |
MSV3d | rs139617694 |
GWAS Ctlg | rs139617694 |
Max Magnitude | 5 |
aka c.1359-1G>A
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
reported as a relatively common FH mutation in Dutch populations
ClinVar | |
---|---|
Risk | rs139617694(A;A) rs139617694(C;C) |
Alt | rs139617694(A;A) rs139617694(C;C) |
Reference | Rs139617694(G;G) |
Significance | Other |
Disease | Hypercholesterolaemia Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Hypercholesterolaemia Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224210G>A; NC_000019.9:g.11224210G>C |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000149884.1, RCV000172962.6, RCV000238326.1, |