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rs80338697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338697(C;T)
Make rs80338697(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42726390
GeneCDAN1
is asnp
is mentioned by
dbSNPrs80338697
ebirs80338697
HLIrs80338697
Exacrs80338697
Varsomers80338697
Maprs80338697
PheGenIrs80338697
hapmaprs80338697
1000 genomesrs80338697
hgdprs80338697
ensemblrs80338697
gopubmedrs80338697
geneviewrs80338697
scholarrs80338697
googlers80338697
pharmgkbrs80338697
gwascentralrs80338697
openSNPrs80338697
23andMers80338697
23andMe allrs80338697
SNP Nexus

SNPshotrs80338697
SNPdbers80338697
MSV3drs80338697
GWAS Ctlgrs80338697
Max Magnitude0
OMIM607465
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338697(T;T)
Alt rs80338697(T;T)
Reference rs80338697(C;C)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 1
HGVS NC_000015.9:g.43018588G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020956.3,


[PMID 12434312OA-icon.png] Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.


[PMID 18081704] Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).