rs201672011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201672011(A;A) |
Make rs201672011(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 44907807 |
Gene | APOE |
is a | snp |
is | mentioned by |
dbSNP | rs201672011 |
dbSNP (classic) | rs201672011 |
ClinGen | rs201672011 |
ebi | rs201672011 |
HLI | rs201672011 |
Exac | rs201672011 |
Gnomad | rs201672011 |
Varsome | rs201672011 |
LitVar | rs201672011 |
Map | rs201672011 |
PheGenI | rs201672011 |
Biobank | rs201672011 |
1000 genomes | rs201672011 |
hgdp | rs201672011 |
ensembl | rs201672011 |
geneview | rs201672011 |
scholar | rs201672011 |
rs201672011 | |
pharmgkb | rs201672011 |
gwascentral | rs201672011 |
openSNP | rs201672011 |
23andMe | rs201672011 |
SNPshot | rs201672011 |
SNPdbe | rs201672011 |
MSV3d | rs201672011 |
GWAS Ctlg | rs201672011 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201672011(A;A) |
Alt | rs201672011(A;A) |
Reference | Rs201672011(G;G) |
Significance | Pathogenic |
Disease | Familial type 3 hyperlipoproteinemia Hypercholesterolemia and hypertriglyceridemia |
Variation | info |
Gene | APOE |
CLNDBN | Familial type 3 hyperlipoproteinemia Hypercholesterolemia and hypertriglyceridemia, type III |
Reversed | 0 |
HGVS | NC_000019.9:g.45411064G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019443.28, RCV000019453.28, |