rs746834464
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs746834464(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11110660 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs746834464 |
dbSNP (classic) | rs746834464 |
ClinGen | rs746834464 |
ebi | rs746834464 |
HLI | rs746834464 |
Exac | rs746834464 |
Gnomad | rs746834464 |
Varsome | rs746834464 |
LitVar | rs746834464 |
Map | rs746834464 |
PheGenI | rs746834464 |
Biobank | rs746834464 |
1000 genomes | rs746834464 |
hgdp | rs746834464 |
ensembl | rs746834464 |
geneview | rs746834464 |
scholar | rs746834464 |
rs746834464 | |
pharmgkb | rs746834464 |
gwascentral | rs746834464 |
openSNP | rs746834464 |
23andMe | rs746834464 |
SNPshot | rs746834464 |
SNPdbe | rs746834464 |
MSV3d | rs746834464 |
GWAS Ctlg | rs746834464 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs746834464(A;A) rs746834464(T;T) |
Alt | rs746834464(A;A) rs746834464(T;T) |
Reference | Rs746834464(G;G) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11221336G>A; NC_000019.9:g.11221336G>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237913.1, RCV000238478.1, |