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rs8023524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs8023524(A;A)
Make rs8023524(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42728785
GeneCDAN1
is asnp
is mentioned by
dbSNPrs8023524
ebirs8023524
HLIrs8023524
Exacrs8023524
Varsomers8023524
Maprs8023524
PheGenIrs8023524
hapmaprs8023524
1000 genomesrs8023524
hgdprs8023524
ensemblrs8023524
gopubmedrs8023524
geneviewrs8023524
scholarrs8023524
googlers8023524
pharmgkbrs8023524
gwascentralrs8023524
openSNPrs8023524
23andMers8023524
23andMe allrs8023524
SNP Nexus

SNPshotrs8023524
SNPdbers8023524
MSV3drs8023524
GWAS Ctlgrs8023524
GMAF0.2107
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene CDAN1
allele A
frequency 0.233
sift TOLERATED
HuRef 1103645596637
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 rs8023524(A;A)
Alt rs8023524(A;A)
Reference rs8023524(G;G)
Significance Non-pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 0
HGVS NC_000015.9:g.43020983G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020955.1,



GET Evidence
CDAN1-R891C
aa_change Arg891Cys
aa_change_short R891C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.270403
summary