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rs80338696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338696(C;T)
Make rs80338696(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42730632
GeneCDAN1
is asnp
is mentioned by
dbSNPrs80338696
ebirs80338696
HLIrs80338696
Exacrs80338696
Varsomers80338696
Maprs80338696
PheGenIrs80338696
hapmaprs80338696
1000 genomesrs80338696
hgdprs80338696
ensemblrs80338696
gopubmedrs80338696
geneviewrs80338696
scholarrs80338696
googlers80338696
pharmgkbrs80338696
gwascentralrs80338696
openSNPrs80338696
23andMers80338696
23andMe allrs80338696
SNP Nexus

SNPshotrs80338696
SNPdbers80338696
MSV3drs80338696
GWAS Ctlgrs80338696
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80338696(T;T)
Alt rs80338696(T;T)
Reference rs80338696(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.43022830G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020954.1,