rs397518446
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397518446(-;G) |
Make rs397518446(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 58200228 |
Gene | EPX |
is a | snp |
is | mentioned by |
dbSNP | rs397518446 |
dbSNP (classic) | rs397518446 |
ClinGen | rs397518446 |
ebi | rs397518446 |
HLI | rs397518446 |
Exac | rs397518446 |
Gnomad | rs397518446 |
Varsome | rs397518446 |
LitVar | rs397518446 |
Map | rs397518446 |
PheGenI | rs397518446 |
Biobank | rs397518446 |
1000 genomes | rs397518446 |
hgdp | rs397518446 |
ensembl | rs397518446 |
geneview | rs397518446 |
scholar | rs397518446 |
rs397518446 | |
pharmgkb | rs397518446 |
gwascentral | rs397518446 |
openSNP | rs397518446 |
23andMe | rs397518446 |
SNPshot | rs397518446 |
SNPdbe | rs397518446 |
MSV3d | rs397518446 |
GWAS Ctlg | rs397518446 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518446(G;G) |
Alt | rs397518446(G;G) |
Reference | Rs397518446(-;-) |
Significance | Other |
Disease | Eosinophil peroxidase deficiency |
Variation | info |
Gene | EPX |
CLNDBN | Eosinophil peroxidase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.56277589dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018091.31, |