rs112366278
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Familial Hypercholesterolemia |
(A;G) | 5 | Familial Hypercholesterolemia |
Make rs112366278(A;T) |
Make rs112366278(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11110650 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs112366278 |
dbSNP (classic) | rs112366278 |
ClinGen | rs112366278 |
ebi | rs112366278 |
HLI | rs112366278 |
Exac | rs112366278 |
Gnomad | rs112366278 |
Varsome | rs112366278 |
LitVar | rs112366278 |
Map | rs112366278 |
PheGenI | rs112366278 |
Biobank | rs112366278 |
1000 genomes | rs112366278 |
hgdp | rs112366278 |
ensembl | rs112366278 |
geneview | rs112366278 |
scholar | rs112366278 |
rs112366278 | |
pharmgkb | rs112366278 |
gwascentral | rs112366278 |
openSNP | rs112366278 |
23andMe | rs112366278 |
SNPshot | rs112366278 |
SNPdbe | rs112366278 |
MSV3d | rs112366278 |
GWAS Ctlg | rs112366278 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs112366278(C;C) rs112366278(G;G) rs112366278(T;T) |
Alt | rs112366278(C;C) rs112366278(G;G) rs112366278(T;T) |
Reference | Rs112366278(A;A) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11221326A>C; NC_000019.9:g.11221326A>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238473.1, RCV000237558.1, |