rs120074167
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs120074167(C;T) |
Make rs120074167(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 42730757 |
Gene | CDAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074167 |
dbSNP (classic) | rs120074167 |
ClinGen | rs120074167 |
ebi | rs120074167 |
HLI | rs120074167 |
Exac | rs120074167 |
Gnomad | rs120074167 |
Varsome | rs120074167 |
LitVar | rs120074167 |
Map | rs120074167 |
PheGenI | rs120074167 |
Biobank | rs120074167 |
1000 genomes | rs120074167 |
hgdp | rs120074167 |
ensembl | rs120074167 |
geneview | rs120074167 |
scholar | rs120074167 |
rs120074167 | |
pharmgkb | rs120074167 |
gwascentral | rs120074167 |
openSNP | rs120074167 |
23andMe | rs120074167 |
SNPshot | rs120074167 |
SNPdbe | rs120074167 |
MSV3d | rs120074167 |
GWAS Ctlg | rs120074167 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074167(T;T) |
Alt | rs120074167(T;T) |
Reference | Rs120074167(C;C) |
Significance | Pathogenic |
Disease | Congenital dyserythropoietic anemia not provided |
Variation | info |
Gene | CDAN1 |
CLNDBN | Congenital dyserythropoietic anemia, type I not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.43022955G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020953.3, RCV000425270.1, |