rs797045253
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a hypobetalipoproteinemia mutation |
(C;C) | 0 | common in clinvar |
Make rs797045253(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 21002397 |
Gene | APOB |
is a | snp |
is | mentioned by |
dbSNP | rs797045253 |
dbSNP (classic) | rs797045253 |
ClinGen | rs797045253 |
ebi | rs797045253 |
HLI | rs797045253 |
Exac | rs797045253 |
Gnomad | rs797045253 |
Varsome | rs797045253 |
LitVar | rs797045253 |
Map | rs797045253 |
PheGenI | rs797045253 |
Biobank | rs797045253 |
1000 genomes | rs797045253 |
hgdp | rs797045253 |
ensembl | rs797045253 |
geneview | rs797045253 |
scholar | rs797045253 |
rs797045253 | |
pharmgkb | rs797045253 |
gwascentral | rs797045253 |
openSNP | rs797045253 |
23andMe | rs797045253 |
SNPshot | rs797045253 |
SNPdbe | rs797045253 |
MSV3d | rs797045253 |
GWAS Ctlg | rs797045253 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045253(-;-) |
Alt | rs797045253(-;-) |
Reference | Rs797045253(C;C) |
Significance | Probable-Pathogenic |
Disease | Hypobetalipoproteinemia |
Variation | info |
Gene | APOB |
CLNDBN | Hypobetalipoproteinemia |
Reversed | 1 |
HGVS | NC_000002.11:g.21225269delG |
CLNSRC | |
CLNACC | RCV000193633.1, |