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

rs120074168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074168(A;A)
Make rs120074168(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42729066
GeneCDAN1
is asnp
is mentioned by
dbSNPrs120074168
ebirs120074168
HLIrs120074168
Exacrs120074168
Varsomers120074168
Maprs120074168
PheGenIrs120074168
hapmaprs120074168
1000 genomesrs120074168
hgdprs120074168
ensemblrs120074168
gopubmedrs120074168
geneviewrs120074168
scholarrs120074168
googlers120074168
pharmgkbrs120074168
gwascentralrs120074168
openSNPrs120074168
23andMers120074168
23andMe allrs120074168
SNP Nexus

SNPshotrs120074168
SNPdbers120074168
MSV3drs120074168
GWAS Ctlgrs120074168
Max Magnitude0
OMIM607465
Desc
Variant0005
Relatedalso
ClinVar
Risk rs120074168(A;A)
Alt rs120074168(A;A)
Reference rs120074168(T;T)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 1
HGVS NC_000015.9:g.43021264A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003330.3,