rs200533979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common in clinvar |
Make rs200533979(C;T) |
Make rs200533979(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11111541 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs200533979 |
dbSNP (classic) | rs200533979 |
ClinGen | rs200533979 |
ebi | rs200533979 |
HLI | rs200533979 |
Exac | rs200533979 |
Gnomad | rs200533979 |
Varsome | rs200533979 |
LitVar | rs200533979 |
Map | rs200533979 |
PheGenI | rs200533979 |
Biobank | rs200533979 |
1000 genomes | rs200533979 |
hgdp | rs200533979 |
ensembl | rs200533979 |
geneview | rs200533979 |
scholar | rs200533979 |
rs200533979 | |
pharmgkb | rs200533979 |
gwascentral | rs200533979 |
openSNP | rs200533979 |
23andMe | rs200533979 |
SNPshot | rs200533979 |
SNPdbe | rs200533979 |
MSV3d | rs200533979 |
GWAS Ctlg | rs200533979 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs200533979(A;A) rs200533979(T;T) |
Alt | rs200533979(A;A) rs200533979(T;T) |
Reference | Rs200533979(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11222217C>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237445.1, |