rs281865425
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AACA) | 3 | Carrier of a hypobetalipoproteinemia mutation |
(AACA;AACA) | 0 | common in clinvar |
Make rs281865425(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 21011602 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs281865425 |
dbSNP (classic) | rs281865425 |
ClinGen | rs281865425 |
ebi | rs281865425 |
HLI | rs281865425 |
Exac | rs281865425 |
Gnomad | rs281865425 |
Varsome | rs281865425 |
LitVar | rs281865425 |
Map | rs281865425 |
PheGenI | rs281865425 |
Biobank | rs281865425 |
1000 genomes | rs281865425 |
hgdp | rs281865425 |
ensembl | rs281865425 |
geneview | rs281865425 |
scholar | rs281865425 |
rs281865425 | |
pharmgkb | rs281865425 |
gwascentral | rs281865425 |
openSNP | rs281865425 |
23andMe | rs281865425 |
SNPshot | rs281865425 |
SNPdbe | rs281865425 |
MSV3d | rs281865425 |
GWAS Ctlg | rs281865425 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs281865425(-;-) |
Alt | rs281865425(-;-) |
Reference | Rs281865425(AACA;AACA) |
Significance | Pathogenic |
Disease | Familial hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Familial hypobetalipoproteinemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21234474_21234477delTGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019470.25, |