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rs120074169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs120074169(-;-)
Make rs120074169(-;GTT)
ReferenceGRCh38 38.1/141
Chromosome15
Position42735117
GeneCDAN1
is asnp
is mentioned by
dbSNPrs120074169
ebirs120074169
HLIrs120074169
Exacrs120074169
Varsomers120074169
Maprs120074169
PheGenIrs120074169
hapmaprs120074169
1000 genomesrs120074169
hgdprs120074169
ensemblrs120074169
gopubmedrs120074169
geneviewrs120074169
scholarrs120074169
googlers120074169
pharmgkbrs120074169
gwascentralrs120074169
openSNPrs120074169
23andMers120074169
23andMe allrs120074169
SNP Nexus

SNPshotrs120074169
SNPdbers120074169
MSV3drs120074169
GWAS Ctlgrs120074169
Max Magnitude0
OMIM607465
Desc
Variant0007
Relatedalso
ClinVar
Risk rs120074169(;)
Alt rs120074169(;)
Reference rs120074169(GTT;GTT)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 1
HGVS NC_000015.9:g.43027315_43027317delAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003332.3,