rs120074169
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTT;GTT) | 0 | common in clinvar |
Make rs120074169(-;-) |
Make rs120074169(-;GTT) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 42735117 |
Gene | CDAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074169 |
dbSNP (classic) | rs120074169 |
ClinGen | rs120074169 |
ebi | rs120074169 |
HLI | rs120074169 |
Exac | rs120074169 |
Gnomad | rs120074169 |
Varsome | rs120074169 |
LitVar | rs120074169 |
Map | rs120074169 |
PheGenI | rs120074169 |
Biobank | rs120074169 |
1000 genomes | rs120074169 |
hgdp | rs120074169 |
ensembl | rs120074169 |
geneview | rs120074169 |
scholar | rs120074169 |
rs120074169 | |
pharmgkb | rs120074169 |
gwascentral | rs120074169 |
openSNP | rs120074169 |
23andMe | rs120074169 |
SNPshot | rs120074169 |
SNPdbe | rs120074169 |
MSV3d | rs120074169 |
GWAS Ctlg | rs120074169 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074169(-;-) |
Alt | rs120074169(-;-) |
Reference | Rs120074169(GTT;GTT) |
Significance | Pathogenic |
Disease | Congenital dyserythropoietic anemia |
Variation | info |
Gene | CDAN1 |
CLNDBN | Congenital dyserythropoietic anemia, type I |
Reversed | 1 |
HGVS | NC_000015.9:g.43027315_43027317delAAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003332.3, |