Have questions? Visit https://www.reddit.com/r/SNPedia

rs120074166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074166(A;G)
Make rs120074166(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42731275
GeneCDAN1
is asnp
is mentioned by
dbSNPrs120074166
ebirs120074166
HLIrs120074166
Exacrs120074166
Varsomers120074166
Maprs120074166
PheGenIrs120074166
hapmaprs120074166
1000 genomesrs120074166
hgdprs120074166
ensemblrs120074166
gopubmedrs120074166
geneviewrs120074166
scholarrs120074166
googlers120074166
pharmgkbrs120074166
gwascentralrs120074166
openSNPrs120074166
23andMers120074166
23andMe allrs120074166
SNP Nexus

SNPshotrs120074166
SNPdbers120074166
MSV3drs120074166
GWAS Ctlgrs120074166
Max Magnitude0
OMIM607465
Desc
Variant0003
Relatedalso
ClinVar
Risk rs120074166(G;G)
Alt rs120074166(G;G)
Reference rs120074166(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.43023473T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003328.3,