rs387906569
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a hypobetalipoproteinemia mutation |
(G;G) | 0 | common in clinvar |
Make rs387906569(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 21004451 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs387906569 |
dbSNP (classic) | rs387906569 |
ClinGen | rs387906569 |
ebi | rs387906569 |
HLI | rs387906569 |
Exac | rs387906569 |
Gnomad | rs387906569 |
Varsome | rs387906569 |
LitVar | rs387906569 |
Map | rs387906569 |
PheGenI | rs387906569 |
Biobank | rs387906569 |
1000 genomes | rs387906569 |
hgdp | rs387906569 |
ensembl | rs387906569 |
geneview | rs387906569 |
scholar | rs387906569 |
rs387906569 | |
pharmgkb | rs387906569 |
gwascentral | rs387906569 |
openSNP | rs387906569 |
23andMe | rs387906569 |
SNPshot | rs387906569 |
SNPdbe | rs387906569 |
MSV3d | rs387906569 |
GWAS Ctlg | rs387906569 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387906569(-;-) |
Alt | rs387906569(-;-) |
Reference | Rs387906569(G;G) |
Significance | Pathogenic |
Disease | Familial hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Familial hypobetalipoproteinemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21227323delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019477.28, |