rs121918223

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121918223(C;T)

Make rs121918223(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

18543095

Gene

SEC23B

is a	snp
is	mentioned by
dbSNP	rs121918223
dbSNP (classic)	rs121918223
ClinGen	rs121918223
ebi	rs121918223
HLI	rs121918223
Exac	rs121918223
Gnomad	rs121918223
Varsome	rs121918223
LitVar	rs121918223
Map	rs121918223
PheGenI	rs121918223
Biobank	rs121918223
1000 genomes	rs121918223
hgdp	rs121918223
ensembl	rs121918223
geneview	rs121918223
scholar	rs121918223
google	rs121918223
pharmgkb	rs121918223
gwascentral	rs121918223
openSNP	rs121918223
23andMe	rs121918223
SNPshot	rs121918223
SNPdbe	rs121918223
MSV3d	rs121918223
GWAS Ctlg	rs121918223

Max Magnitude

0

OMIM	610512
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918223(T;T)
Alt	rs121918223(T;T)
Reference	Rs121918223(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.18523739C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001283.4,