rs139633388
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139633388(C;G) |
Make rs139633388(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 149178609 |
Gene | CP |
is a | snp |
is | mentioned by |
dbSNP | rs139633388 |
dbSNP (classic) | rs139633388 |
ClinGen | rs139633388 |
ebi | rs139633388 |
HLI | rs139633388 |
Exac | rs139633388 |
Gnomad | rs139633388 |
Varsome | rs139633388 |
LitVar | rs139633388 |
Map | rs139633388 |
PheGenI | rs139633388 |
Biobank | rs139633388 |
1000 genomes | rs139633388 |
hgdp | rs139633388 |
ensembl | rs139633388 |
geneview | rs139633388 |
scholar | rs139633388 |
rs139633388 | |
pharmgkb | rs139633388 |
gwascentral | rs139633388 |
openSNP | rs139633388 |
23andMe | rs139633388 |
SNPshot | rs139633388 |
SNPdbe | rs139633388 |
MSV3d | rs139633388 |
GWAS Ctlg | rs139633388 |
GMAF | 0.002296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139633388(G;G) |
Alt | rs139633388(G;G) |
Reference | Rs139633388(C;C) |
Significance | Pathogenic |
Disease | Deficiency of ferroxidase Hemosiderosis not specified not provided |
Variation | info |
Gene | CP |
CLNDBN | Deficiency of ferroxidase Hemosiderosis, systemic, due to aceruloplasminemia not specified not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.148896396C>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034882.1, RCV000116819.1, RCV000334692.1, RCV000419016.1, |