rs397514255
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a hypobetalipoproteinemia mutation |
(G;G) | 0 | common in clinvar |
Make rs397514255(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 21011405 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs397514255 |
dbSNP (classic) | rs397514255 |
ClinGen | rs397514255 |
ebi | rs397514255 |
HLI | rs397514255 |
Exac | rs397514255 |
Gnomad | rs397514255 |
Varsome | rs397514255 |
LitVar | rs397514255 |
Map | rs397514255 |
PheGenI | rs397514255 |
Biobank | rs397514255 |
1000 genomes | rs397514255 |
hgdp | rs397514255 |
ensembl | rs397514255 |
geneview | rs397514255 |
scholar | rs397514255 |
rs397514255 | |
pharmgkb | rs397514255 |
gwascentral | rs397514255 |
openSNP | rs397514255 |
23andMe | rs397514255 |
SNPshot | rs397514255 |
SNPdbe | rs397514255 |
MSV3d | rs397514255 |
GWAS Ctlg | rs397514255 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs397514255(-;-) |
Alt | rs397514255(-;-) |
Reference | Rs397514255(G;G) |
Significance | Pathogenic |
Disease | Familial hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Familial hypobetalipoproteinemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21234277delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019471.27, |