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rs4265781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4265781(A;A)
Make rs4265781(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42736551
GeneCDAN1
is asnp
is mentioned by
dbSNPrs4265781
ebirs4265781
HLIrs4265781
Exacrs4265781
Varsomers4265781
Maprs4265781
PheGenIrs4265781
hapmaprs4265781
1000 genomesrs4265781
hgdprs4265781
ensemblrs4265781
gopubmedrs4265781
geneviewrs4265781
scholarrs4265781
googlers4265781
pharmgkbrs4265781
gwascentralrs4265781
openSNPrs4265781
23andMers4265781
23andMe allrs4265781
SNP Nexus

SNPshotrs4265781
SNPdbers4265781
MSV3drs4265781
GWAS Ctlgrs4265781
GMAF0.3912
Max Magnitude0
Venter snp
Source plos
Gene CDAN1
allele A
frequency
sift TOLERATED
HuRef 1103645596681
Disease Association Defects in CDAN1 are the cause of congenital dyserythropoietic anemia type I (CDAI) (MIM:224120). CDAI is an autosomal recessive disease characterized by morphological and functional abnormalities of erythropoiesis. Ultrastructural erythroid features include spongy heterochromatin and invagination of the nuclear membrane, carrying cytoplasm and cytoplasmic organelles into the nucleus. Patients with CDAI present moderate to severe macrocytic anemia.



ClinVar
Risk rs4265781(A;A)
Alt rs4265781(A;A)
Reference rs4265781(T;T)
Significance Non-pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 0
HGVS NC_000015.9:g.43028749T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020958.1,



GET Evidence
CDAN1-Q107L
aa_change Gln107Leu
aa_change_short Q107L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.25
summary