rs878853970
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a hypobetalipoproteinemia mutation |
Make rs878853970(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 21028484 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs878853970 |
dbSNP (classic) | rs878853970 |
ClinGen | rs878853970 |
ebi | rs878853970 |
HLI | rs878853970 |
Exac | rs878853970 |
Gnomad | rs878853970 |
Varsome | rs878853970 |
LitVar | rs878853970 |
Map | rs878853970 |
PheGenI | rs878853970 |
Biobank | rs878853970 |
1000 genomes | rs878853970 |
hgdp | rs878853970 |
ensembl | rs878853970 |
geneview | rs878853970 |
scholar | rs878853970 |
rs878853970 | |
pharmgkb | rs878853970 |
gwascentral | rs878853970 |
openSNP | rs878853970 |
23andMe | rs878853970 |
SNPshot | rs878853970 |
SNPdbe | rs878853970 |
MSV3d | rs878853970 |
GWAS Ctlg | rs878853970 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs878853970(T;T) |
Alt | rs878853970(T;T) |
Reference | Rs878853970(C;C) |
Significance | Pathogenic |
Disease | Hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Hypobetalipoproteinemia, familial, 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.21251356G>A |
CLNSRC | |
CLNACC | RCV000234398.1, |