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rs121918226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918226(C;T)
Make rs121918226(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position18524980
GeneSEC23B
is asnp
is mentioned by
dbSNPrs121918226
ebirs121918226
HLIrs121918226
Exacrs121918226
Varsomers121918226
Maprs121918226
PheGenIrs121918226
hapmaprs121918226
1000 genomesrs121918226
hgdprs121918226
ensemblrs121918226
gopubmedrs121918226
geneviewrs121918226
scholarrs121918226
googlers121918226
pharmgkbrs121918226
gwascentralrs121918226
openSNPrs121918226
23andMers121918226
23andMe allrs121918226
SNP Nexus

SNPshotrs121918226
SNPdbers121918226
MSV3drs121918226
GWAS Ctlgrs121918226
Max Magnitude0
OMIM610512
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918226(T;T)
Alt rs121918226(T;T)
Reference rs121918226(C;C)
Significance Pathogenic
Disease Congenital dyserythropoietic anemia not provided
Variation info
Gene SEC23B
CLNDBN Congenital dyserythropoietic anemia, type II not provided
Reversed 0
HGVS NC_000020.10:g.18505624C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001286.3, RCV000153926.3,