rs730882103
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Familial Hypercholesterolemia |
(A;T) | 5 | Familial Hypercholesterolemia |
Make rs730882103(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113686 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs730882103 |
dbSNP (classic) | rs730882103 |
ClinGen | rs730882103 |
ebi | rs730882103 |
HLI | rs730882103 |
Exac | rs730882103 |
Gnomad | rs730882103 |
Varsome | rs730882103 |
LitVar | rs730882103 |
Map | rs730882103 |
PheGenI | rs730882103 |
Biobank | rs730882103 |
1000 genomes | rs730882103 |
hgdp | rs730882103 |
ensembl | rs730882103 |
geneview | rs730882103 |
scholar | rs730882103 |
rs730882103 | |
pharmgkb | rs730882103 |
gwascentral | rs730882103 |
openSNP | rs730882103 |
23andMe | rs730882103 |
SNPshot | rs730882103 |
SNPdbe | rs730882103 |
MSV3d | rs730882103 |
GWAS Ctlg | rs730882103 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs730882103(G;G) rs730882103(T;T) |
Alt | rs730882103(G;G) rs730882103(T;T) |
Reference | Rs730882103(A;A) |
Significance | Other |
Disease | not provided Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | not provided Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224362A>G; NC_000019.9:g.11224362A>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000161990.1, RCV000237290.1, RCV000237866.1, |