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rs80338695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338695(C;T)
Make rs80338695(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42730760
GeneCDAN1
is asnp
is mentioned by
dbSNPrs80338695
ebirs80338695
HLIrs80338695
Exacrs80338695
Varsomers80338695
Maprs80338695
PheGenIrs80338695
hapmaprs80338695
1000 genomesrs80338695
hgdprs80338695
ensemblrs80338695
gopubmedrs80338695
geneviewrs80338695
scholarrs80338695
googlers80338695
pharmgkbrs80338695
gwascentralrs80338695
openSNPrs80338695
23andMers80338695
23andMe allrs80338695
SNP Nexus

SNPshotrs80338695
SNPdbers80338695
MSV3drs80338695
GWAS Ctlgrs80338695
Max Magnitude0
OMIM607465
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338695(T;T)
Alt rs80338695(T;T)
Reference rs80338695(C;C)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 1
HGVS NC_000015.10:g.42730760G>A
CLNSRC ClinVar GeneReviews OMIM Allelic Variant
CLNACC RCV000020953.2,


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