rs587776852
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a hypobetalipoproteinemia mutation |
(C;C) | 0 | common in clinvar |
(CA;CA) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776852(-;-) |
Make rs587776852(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 21005156 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs587776852 |
dbSNP (classic) | rs587776852 |
ClinGen | rs587776852 |
ebi | rs587776852 |
HLI | rs587776852 |
Exac | rs587776852 |
Gnomad | rs587776852 |
Varsome | rs587776852 |
LitVar | rs587776852 |
Map | rs587776852 |
PheGenI | rs587776852 |
Biobank | rs587776852 |
1000 genomes | rs587776852 |
hgdp | rs587776852 |
ensembl | rs587776852 |
geneview | rs587776852 |
scholar | rs587776852 |
rs587776852 | |
pharmgkb | rs587776852 |
gwascentral | rs587776852 |
openSNP | rs587776852 |
23andMe | rs587776852 |
SNPshot | rs587776852 |
SNPdbe | rs587776852 |
MSV3d | rs587776852 |
GWAS Ctlg | rs587776852 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | Rs587776852(G;G) rs587776852(-;-) |
Alt | Rs587776852(G;G) rs587776852(-;-) |
Reference | Rs587776852(C;C) |
Significance | Pathogenic |
Disease | Familial hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Familial hypobetalipoproteinemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21228028delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019485.26, |