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rs120074167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074167(C;T)
Make rs120074167(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42730757
GeneCDAN1
is asnp
is mentioned by
dbSNPrs120074167
ebirs120074167
HLIrs120074167
Exacrs120074167
Varsomers120074167
Maprs120074167
PheGenIrs120074167
hapmaprs120074167
1000 genomesrs120074167
hgdprs120074167
ensemblrs120074167
gopubmedrs120074167
geneviewrs120074167
scholarrs120074167
googlers120074167
pharmgkbrs120074167
gwascentralrs120074167
openSNPrs120074167
23andMers120074167
23andMe allrs120074167
SNP Nexus

SNPshotrs120074167
SNPdbers120074167
MSV3drs120074167
GWAS Ctlgrs120074167
Max Magnitude0
OMIM607465
Desc
Variant0004
Relatedalso
ClinVar
Risk rs120074167(T;T)
Alt rs120074167(T;T)
Reference rs120074167(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.43022955G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020953.3,