rs1064793799
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Familial Hypercholesterolemia |
Chromosome | 19 |
Position | 11102789 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs1064793799 |
dbSNP (classic) | rs1064793799 |
ClinGen | rs1064793799 |
ebi | rs1064793799 |
HLI | rs1064793799 |
Exac | rs1064793799 |
Gnomad | rs1064793799 |
Varsome | rs1064793799 |
LitVar | rs1064793799 |
Map | rs1064793799 |
PheGenI | rs1064793799 |
Biobank | rs1064793799 |
1000 genomes | rs1064793799 |
hgdp | rs1064793799 |
ensembl | rs1064793799 |
geneview | rs1064793799 |
scholar | rs1064793799 |
rs1064793799 | |
pharmgkb | rs1064793799 |
gwascentral | rs1064793799 |
openSNP | rs1064793799 |
23andMe | rs1064793799 |
SNPshot | rs1064793799 |
SNPdbe | rs1064793799 |
MSV3d | rs1064793799 |
GWAS Ctlg | rs1064793799 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1064793799(C;C) |
Alt | rs1064793799(C;C) |
Reference | Rs1064793799(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | LDLR |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.11213465A>C |
CLNSRC | |
CLNACC | RCV000482458.1, |