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rs121918221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918221(A;A)
Make rs121918221(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position18515695
GeneSEC23B
is asnp
is mentioned by
dbSNPrs121918221
ebirs121918221
HLIrs121918221
Exacrs121918221
Varsomers121918221
Maprs121918221
PheGenIrs121918221
hapmaprs121918221
1000 genomesrs121918221
hgdprs121918221
ensemblrs121918221
gopubmedrs121918221
geneviewrs121918221
scholarrs121918221
googlers121918221
pharmgkbrs121918221
gwascentralrs121918221
openSNPrs121918221
23andMers121918221
23andMe allrs121918221
SNP Nexus

SNPshotrs121918221
SNPdbers121918221
MSV3drs121918221
GWAS Ctlgrs121918221
GMAF0.0004591
Max Magnitude0
OMIM610512
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918221(A;A)
Alt rs121918221(A;A)
Reference rs121918221(G;G)
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.18496339G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001281.3, RCV000081407.4,