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rs80338699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338699(C;T)
Make rs80338699(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42725550
GeneCDAN1
is asnp
is mentioned by
dbSNPrs80338699
ebirs80338699
HLIrs80338699
Exacrs80338699
Varsomers80338699
Maprs80338699
PheGenIrs80338699
hapmaprs80338699
1000 genomesrs80338699
hgdprs80338699
ensemblrs80338699
gopubmedrs80338699
geneviewrs80338699
scholarrs80338699
googlers80338699
pharmgkbrs80338699
gwascentralrs80338699
openSNPrs80338699
23andMers80338699
23andMe allrs80338699
SNP Nexus

SNPshotrs80338699
SNPdbers80338699
MSV3drs80338699
GWAS Ctlgrs80338699
Max Magnitude0
OMIM607465
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338699(T;T)
Alt rs80338699(T;T)
Reference rs80338699(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.43017748G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020959.3,


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