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rs121918224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918224(C;T)
Make rs121918224(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position18525888
GeneSEC23B
is asnp
is mentioned by
dbSNPrs121918224
ebirs121918224
HLIrs121918224
Exacrs121918224
Varsomers121918224
Maprs121918224
PheGenIrs121918224
hapmaprs121918224
1000 genomesrs121918224
hgdprs121918224
ensemblrs121918224
gopubmedrs121918224
geneviewrs121918224
scholarrs121918224
googlers121918224
pharmgkbrs121918224
gwascentralrs121918224
openSNPrs121918224
23andMers121918224
23andMe allrs121918224
SNP Nexus

SNPshotrs121918224
SNPdbers121918224
MSV3drs121918224
GWAS Ctlgrs121918224
Max Magnitude0
OMIM610512
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918224(T;T)
Alt rs121918224(T;T)
Reference rs121918224(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.18506532C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001284.4,