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rs113313967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113313967(C;T)
Make rs113313967(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position42731206
GeneCDAN1
is asnp
is mentioned by
dbSNPrs113313967
ebirs113313967
HLIrs113313967
Exacrs113313967
Varsomers113313967
Maprs113313967
PheGenIrs113313967
hapmaprs113313967
1000 genomesrs113313967
hgdprs113313967
ensemblrs113313967
gopubmedrs113313967
geneviewrs113313967
scholarrs113313967
googlers113313967
pharmgkbrs113313967
gwascentralrs113313967
openSNPrs113313967
23andMers113313967
23andMe allrs113313967
SNP Nexus

SNPshotrs113313967
SNPdbers113313967
MSV3drs113313967
GWAS Ctlgrs113313967
Max Magnitude0
ClinVar
Risk rs113313967(T;T)
Alt rs113313967(T;T)
Reference rs113313967(C;C)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene CDAN1
CLNDBN Congenital dyserythropoietic anemia, type I
Reversed 0
HGVS NC_000015.9:g.43023404C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003331.3,