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rs12917189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs12917189(C;C)
Make rs12917189(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42731284
GeneCDAN1
is asnp
is mentioned by
dbSNPrs12917189
ebirs12917189
HLIrs12917189
Exacrs12917189
Varsomers12917189
Maprs12917189
PheGenIrs12917189
hapmaprs12917189
1000 genomesrs12917189
hgdprs12917189
ensemblrs12917189
gopubmedrs12917189
geneviewrs12917189
scholarrs12917189
googlers12917189
pharmgkbrs12917189
gwascentralrs12917189
openSNPrs12917189
23andMers12917189
23andMe allrs12917189
SNP Nexus

SNPshotrs12917189
SNPdbers12917189
MSV3drs12917189
GWAS Ctlgrs12917189
GMAF0.3857
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene CDAN1
allele C
frequency 0.25
sift TOLERATED
HuRef 1103645596631
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 rs12917189(C;C)
Alt rs12917189(C;C)
Reference rs12917189(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.43023482T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020952.1,



GET Evidence
CDAN1-Q596R
aa_change Gln596Arg
aa_change_short Q596R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.419781
summary