rs200143634
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5 | Familial Hypercholesterolemia |
(C;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs200143634(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113543 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs200143634 |
dbSNP (classic) | rs200143634 |
ClinGen | rs200143634 |
ebi | rs200143634 |
HLI | rs200143634 |
Exac | rs200143634 |
Gnomad | rs200143634 |
Varsome | rs200143634 |
LitVar | rs200143634 |
Map | rs200143634 |
PheGenI | rs200143634 |
Biobank | rs200143634 |
1000 genomes | rs200143634 |
hgdp | rs200143634 |
ensembl | rs200143634 |
geneview | rs200143634 |
scholar | rs200143634 |
rs200143634 | |
pharmgkb | rs200143634 |
gwascentral | rs200143634 |
openSNP | rs200143634 |
23andMe | rs200143634 |
SNPshot | rs200143634 |
SNPdbe | rs200143634 |
MSV3d | rs200143634 |
GWAS Ctlg | rs200143634 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs200143634(A;A) rs200143634(C;C) |
Alt | rs200143634(A;A) rs200143634(C;C) |
Reference | Rs200143634(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224219T>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237859.1, |