rs121918221

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a congenital dyserythropoietic anemia type II mutation
(G;G)	0	common in clinvar

Make rs121918221(A;A)

Reference

GRCh38 38.1/141

Chromosome

20

Position

18515695

Gene

SEC23B

is a	snp
is	mentioned by
dbSNP	rs121918221
dbSNP (classic)	rs121918221
ClinGen	rs121918221
ebi	rs121918221
HLI	rs121918221
Exac	rs121918221
Gnomad	rs121918221
Varsome	rs121918221
LitVar	rs121918221
Map	rs121918221
PheGenI	rs121918221
Biobank	rs121918221
1000 genomes	rs121918221
hgdp	rs121918221
ensembl	rs121918221
geneview	rs121918221
scholar	rs121918221
google	rs121918221
pharmgkb	rs121918221
gwascentral	rs121918221
openSNP	rs121918221
23andMe	rs121918221
SNPshot	rs121918221
SNPdbe	rs121918221
MSV3d	rs121918221
GWAS Ctlg	rs121918221

GMAF

0.0004591

Max Magnitude

3

aka c.325G>A (p.Glu109Lys or E109K)

OMIM	610512
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000001281.3, RCV000081407.4,