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rs121918222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918222(C;T)
Make rs121918222(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position18510875
GeneSEC23B
is asnp
is mentioned by
dbSNPrs121918222
ebirs121918222
HLIrs121918222
Exacrs121918222
Varsomers121918222
Maprs121918222
PheGenIrs121918222
hapmaprs121918222
1000 genomesrs121918222
hgdprs121918222
ensemblrs121918222
gopubmedrs121918222
geneviewrs121918222
scholarrs121918222
googlers121918222
pharmgkbrs121918222
gwascentralrs121918222
openSNPrs121918222
23andMers121918222
23andMe allrs121918222
SNP Nexus

SNPshotrs121918222
SNPdbers121918222
MSV3drs121918222
GWAS Ctlgrs121918222
Max Magnitude0
OMIM610512
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918222(T;T)
Alt rs121918222(T;T)
Reference rs121918222(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.18491519C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001282.4, RCV000153924.3,