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rs80338698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338698(A;T)
Make rs80338698(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42726386
GeneCDAN1
is asnp
is mentioned by
dbSNPrs80338698
dbSNP (classic)rs80338698
ClinGenrs80338698
ebirs80338698
HLIrs80338698
Exacrs80338698
Gnomadrs80338698
Varsomers80338698
LitVarrs80338698
Maprs80338698
PheGenIrs80338698
Biobankrs80338698
1000 genomesrs80338698
hgdprs80338698
ensemblrs80338698
geneviewrs80338698
scholarrs80338698
googlers80338698
pharmgkbrs80338698
gwascentralrs80338698
openSNPrs80338698
23andMers80338698
SNPshotrs80338698
SNPdbers80338698
MSV3drs80338698
GWAS Ctlgrs80338698
Max Magnitude0
ClinVar
Risk rs80338698(C;C) rs80338698(T;T)
Alt rs80338698(C;C) rs80338698(T;T)
Reference Rs80338698(A;A)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 1
HGVS NC_000015.9:g.43018584T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000020957.1,