rs1060499921
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Familial Hypercholesterolemia |
Chromosome | 19 |
Position | 11111630 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499921 |
dbSNP (classic) | rs1060499921 |
ClinGen | rs1060499921 |
ebi | rs1060499921 |
HLI | rs1060499921 |
Exac | rs1060499921 |
Gnomad | rs1060499921 |
Varsome | rs1060499921 |
LitVar | rs1060499921 |
Map | rs1060499921 |
PheGenI | rs1060499921 |
Biobank | rs1060499921 |
1000 genomes | rs1060499921 |
hgdp | rs1060499921 |
ensembl | rs1060499921 |
geneview | rs1060499921 |
scholar | rs1060499921 |
rs1060499921 | |
pharmgkb | rs1060499921 |
gwascentral | rs1060499921 |
openSNP | rs1060499921 |
23andMe | rs1060499921 |
SNPshot | rs1060499921 |
SNPdbe | rs1060499921 |
MSV3d | rs1060499921 |
GWAS Ctlg | rs1060499921 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1060499921(C;C) |
Alt | rs1060499921(C;C) |
Reference | Rs1060499921(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11222306A>C |
CLNSRC | |
CLNACC | RCV000454806.1, |