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rs121918223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918223(C;T)
Make rs121918223(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position18543095
GeneSEC23B
is asnp
is mentioned by
dbSNPrs121918223
ebirs121918223
HLIrs121918223
Exacrs121918223
Varsomers121918223
Maprs121918223
PheGenIrs121918223
hapmaprs121918223
1000 genomesrs121918223
hgdprs121918223
ensemblrs121918223
gopubmedrs121918223
geneviewrs121918223
scholarrs121918223
googlers121918223
pharmgkbrs121918223
gwascentralrs121918223
openSNPrs121918223
23andMers121918223
23andMe allrs121918223
SNP Nexus

SNPshotrs121918223
SNPdbers121918223
MSV3drs121918223
GWAS Ctlgrs121918223
Max Magnitude0
OMIM610512
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918223(T;T)
Alt rs121918223(T;T)
Reference rs121918223(C;C)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia
Variation info
Gene SEC23B
CLNDBN Congenital dyserythropoietic anemia, type II
Reversed 0
HGVS NC_000020.10:g.18523739C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001283.4,