rs12917189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs12917189(C;C) |
Make rs12917189(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 42731284 |
Gene | CDAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs12917189 |
dbSNP (classic) | rs12917189 |
ClinGen | rs12917189 |
ebi | rs12917189 |
HLI | rs12917189 |
Exac | rs12917189 |
Gnomad | rs12917189 |
Varsome | rs12917189 |
LitVar | rs12917189 |
Map | rs12917189 |
PheGenI | rs12917189 |
Biobank | rs12917189 |
1000 genomes | rs12917189 |
hgdp | rs12917189 |
ensembl | rs12917189 |
geneview | rs12917189 |
scholar | rs12917189 |
rs12917189 | |
pharmgkb | rs12917189 |
gwascentral | rs12917189 |
openSNP | rs12917189 |
23andMe | rs12917189 |
SNPshot | rs12917189 |
SNPdbe | rs12917189 |
MSV3d | rs12917189 |
GWAS Ctlg | rs12917189 |
GMAF | 0.3857 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs12917189(C;C) |
Alt | rs12917189(C;C) |
Reference | Rs12917189(T;T) |
Significance | Non-pathogenic |
Disease | Congenital dyserythropoietic anemia not specified Congenital dyserythropoietic anemia |
Variation | info |
Gene | CDAN1 |
CLNDBN | Congenital dyserythropoietic anemia, type I not specified Congenital dyserythropoietic anemia |
Reversed | 0 |
HGVS | NC_000015.9:g.43023482T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020952.1, RCV000250792.1, RCV000363074.1, |