rs80338699

Orientation

minus

Stabilized

minus

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

Make rs80338699(C;T)

Make rs80338699(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42725550

Gene

CDAN1

is a	snp
is	mentioned by
dbSNP	rs80338699
dbSNP (classic)	rs80338699
ClinGen	rs80338699
ebi	rs80338699
HLI	rs80338699
Exac	rs80338699
Gnomad	rs80338699
Varsome	rs80338699
LitVar	rs80338699
Map	rs80338699
PheGenI	rs80338699
Biobank	rs80338699
1000 genomes	rs80338699
hgdp	rs80338699
ensembl	rs80338699
geneview	rs80338699
scholar	rs80338699
google	rs80338699
pharmgkb	rs80338699
gwascentral	rs80338699
openSNP	rs80338699
23andMe	rs80338699
SNPshot	rs80338699
SNPdbe	rs80338699
MSV3d	rs80338699
GWAS Ctlg	rs80338699

Max Magnitude

0

OMIM	607465
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338699(T;T)
Alt	rs80338699(T;T)
Reference	Rs80338699(C;C)
Significance	Pathogenic
Disease	Congenital dyserythropoietic anemia
Variation	info
Gene	CDAN1
CLNDBN	Congenital dyserythropoietic anemia, type I
Reversed	1
HGVS	NC_000015.9:g.43017748G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020959.3,

[PMID 12434312] Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.