rs200727689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(C;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common/normal |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs200727689(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 11105408 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs200727689 |
dbSNP (classic) | rs200727689 |
ClinGen | rs200727689 |
ebi | rs200727689 |
HLI | rs200727689 |
Exac | rs200727689 |
Gnomad | rs200727689 |
Varsome | rs200727689 |
LitVar | rs200727689 |
Map | rs200727689 |
PheGenI | rs200727689 |
Biobank | rs200727689 |
1000 genomes | rs200727689 |
hgdp | rs200727689 |
ensembl | rs200727689 |
geneview | rs200727689 |
scholar | rs200727689 |
rs200727689 | |
pharmgkb | rs200727689 |
gwascentral | rs200727689 |
openSNP | rs200727689 |
23andMe | rs200727689 |
SNPshot | rs200727689 |
SNPdbe | rs200727689 |
MSV3d | rs200727689 |
GWAS Ctlg | rs200727689 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs200727689(A;A) rs200727689(C;C) rs200727689(T;T) |
Alt | rs200727689(A;A) rs200727689(C;C) rs200727689(T;T) |
Reference | Rs200727689(G;G) |
Significance | Other |
Disease | not provided Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | not provided Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11216084G>A; NC_000019.9:g.11216084G>C; NC_000019.9:g.11216084G>T |
CLNSRC | LDLR @ LOVD UniProtKB (protein) |
CLNACC | RCV000162017.1, RCV000211669.3, RCV000238302.1, RCV000237377.1, |