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rs80338694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338694(C;G)
Make rs80338694(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42736715
GeneCDAN1
is asnp
is mentioned by
dbSNPrs80338694
ebirs80338694
HLIrs80338694
Exacrs80338694
Varsomers80338694
Maprs80338694
PheGenIrs80338694
hapmaprs80338694
1000 genomesrs80338694
hgdprs80338694
ensemblrs80338694
gopubmedrs80338694
geneviewrs80338694
scholarrs80338694
googlers80338694
pharmgkbrs80338694
gwascentralrs80338694
openSNPrs80338694
23andMers80338694
23andMe allrs80338694
SNP Nexus

SNPshotrs80338694
SNPdbers80338694
MSV3drs80338694
GWAS Ctlgrs80338694
Max Magnitude0
ClinVar
Risk rs80338694(G,T;G,T)
Alt rs80338694(G,T;G,T)
Reference rs80338694(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.43028913G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020951.1,