rs398122986
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398122986(-;-) |
Make rs398122986(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 62597621 |
Gene | ANGPTL3, DOCK7 |
is a | snp |
is | mentioned by |
dbSNP | rs398122986 |
dbSNP (classic) | rs398122986 |
ClinGen | rs398122986 |
ebi | rs398122986 |
HLI | rs398122986 |
Exac | rs398122986 |
Gnomad | rs398122986 |
Varsome | rs398122986 |
LitVar | rs398122986 |
Map | rs398122986 |
PheGenI | rs398122986 |
Biobank | rs398122986 |
1000 genomes | rs398122986 |
hgdp | rs398122986 |
ensembl | rs398122986 |
geneview | rs398122986 |
scholar | rs398122986 |
rs398122986 | |
pharmgkb | rs398122986 |
gwascentral | rs398122986 |
openSNP | rs398122986 |
23andMe | rs398122986 |
SNPshot | rs398122986 |
SNPdbe | rs398122986 |
MSV3d | rs398122986 |
GWAS Ctlg | rs398122986 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122986(-;-) |
Alt | rs398122986(-;-) |
Reference | Rs398122986(A;A) |
Significance | Pathogenic |
Disease | Hypobetalipoproteinemia |
Variation | info |
Gene | DOCK7 ANGPTL3 |
CLNDBN | Hypobetalipoproteinemia, familial, 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.63063292delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000077767.4, |