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rs12917189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs12917189(C;C)
Make rs12917189(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42731284
GeneCDAN1
is asnp
is mentioned by
dbSNPrs12917189
dbSNP (classic)rs12917189
ClinGenrs12917189
ebirs12917189
HLIrs12917189
Exacrs12917189
Gnomadrs12917189
Varsomers12917189
LitVarrs12917189
Maprs12917189
PheGenIrs12917189
Biobankrs12917189
1000 genomesrs12917189
hgdprs12917189
ensemblrs12917189
geneviewrs12917189
scholarrs12917189
googlers12917189
pharmgkbrs12917189
gwascentralrs12917189
openSNPrs12917189
23andMers12917189
SNPshotrs12917189
SNPdbers12917189
MSV3drs12917189
GWAS Ctlgrs12917189
GMAF0.3857
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs12917189(C;C)
Alt rs12917189(C;C)
Reference Rs12917189(T;T)
Significance Non-pathogenic
Disease Congenital dyserythropoietic anemia not specified Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I not specified Congenital dyserythropoietic anemia
Reversed 0
HGVS NC_000015.9:g.43023482T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000020952.1, RCV000250792.1, RCV000363074.1,