rs515726148
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
(TCC;TCC) | 0 | common in clinvar |
Make rs515726148(-;-) |
Make rs515726148(-;TCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 44908796 |
Gene | APOE |
is a | snp |
is | mentioned by |
dbSNP | rs515726148 |
dbSNP (classic) | rs515726148 |
ClinGen | rs515726148 |
ebi | rs515726148 |
HLI | rs515726148 |
Exac | rs515726148 |
Gnomad | rs515726148 |
Varsome | rs515726148 |
LitVar | rs515726148 |
Map | rs515726148 |
PheGenI | rs515726148 |
Biobank | rs515726148 |
1000 genomes | rs515726148 |
hgdp | rs515726148 |
ensembl | rs515726148 |
geneview | rs515726148 |
scholar | rs515726148 |
rs515726148 | |
pharmgkb | rs515726148 |
gwascentral | rs515726148 |
openSNP | rs515726148 |
23andMe | rs515726148 |
SNPshot | rs515726148 |
SNPdbe | rs515726148 |
MSV3d | rs515726148 |
GWAS Ctlg | rs515726148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726148(-;-) Rs515726148(CTC;CTC) |
Alt | rs515726148(-;-) Rs515726148(CTC;CTC) |
Reference | Rs515726148(TCC;TCC) |
Significance | Pathogenic |
Disease | Sea-blue histiocyte syndrome |
Variation | info |
Gene | APOE |
CLNDBN | Sea-blue histiocyte syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.45412053_45412055delTCC |
CLNSRC | |
CLNACC | RCV000202536.1, |