rs397514254
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397514254(-;GAGGTGCAGGCCATGCTCGGC) |
Make rs397514254(GAGGTGCAGGCCATGCTCGGC;GAGGTGCAGGCCATGCTCGGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 44908731 |
Gene | APOE |
is a | snp |
is | mentioned by |
dbSNP | rs397514254 |
dbSNP (classic) | rs397514254 |
ClinGen | rs397514254 |
ebi | rs397514254 |
HLI | rs397514254 |
Exac | rs397514254 |
Gnomad | rs397514254 |
Varsome | rs397514254 |
LitVar | rs397514254 |
Map | rs397514254 |
PheGenI | rs397514254 |
Biobank | rs397514254 |
1000 genomes | rs397514254 |
hgdp | rs397514254 |
ensembl | rs397514254 |
geneview | rs397514254 |
scholar | rs397514254 |
rs397514254 | |
pharmgkb | rs397514254 |
gwascentral | rs397514254 |
openSNP | rs397514254 |
23andMe | rs397514254 |
SNPshot | rs397514254 |
SNPdbe | rs397514254 |
MSV3d | rs397514254 |
GWAS Ctlg | rs397514254 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514254(CGGCGAGGTGCAGGCCATGCT;CGGCGAGGTGCAGGCCATGCT) |
Alt | rs397514254(CGGCGAGGTGCAGGCCATGCT;CGGCGAGGTGCAGGCCATGCT) |
Reference | Rs397514254(-;-) |
Significance | Pathogenic |
Disease | Familial type 3 hyperlipoproteinemia |
Variation | info |
Gene | APOE |
CLNDBN | Familial type 3 hyperlipoproteinemia |
Reversed | 0 |
HGVS | NC_000019.9:g.45411968_45411988dup21 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019434.28, |