rs755389753
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs755389753(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113763 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs755389753 |
dbSNP (classic) | rs755389753 |
ClinGen | rs755389753 |
ebi | rs755389753 |
HLI | rs755389753 |
Exac | rs755389753 |
Gnomad | rs755389753 |
Varsome | rs755389753 |
LitVar | rs755389753 |
Map | rs755389753 |
PheGenI | rs755389753 |
Biobank | rs755389753 |
1000 genomes | rs755389753 |
hgdp | rs755389753 |
ensembl | rs755389753 |
geneview | rs755389753 |
scholar | rs755389753 |
rs755389753 | |
pharmgkb | rs755389753 |
gwascentral | rs755389753 |
openSNP | rs755389753 |
23andMe | rs755389753 |
SNPshot | rs755389753 |
SNPdbe | rs755389753 |
MSV3d | rs755389753 |
GWAS Ctlg | rs755389753 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs755389753(A;A) rs755389753(T;T) |
Alt | rs755389753(A;A) rs755389753(T;T) |
Reference | Rs755389753(G;G) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224439G>A; NC_000019.9:g.11224439G>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238067.1, RCV000237138.1, |