rs80338695

Orientation

minus

Stabilized

minus

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

Make rs80338695(C;T)

Make rs80338695(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42730760

Gene

CDAN1

is a	snp
is	mentioned by
dbSNP	rs80338695
dbSNP (classic)	rs80338695
ClinGen	rs80338695
ebi	rs80338695
HLI	rs80338695
Exac	rs80338695
Gnomad	rs80338695
Varsome	rs80338695
LitVar	rs80338695
Map	rs80338695
PheGenI	rs80338695
Biobank	rs80338695
1000 genomes	rs80338695
hgdp	rs80338695
ensembl	rs80338695
geneview	rs80338695
scholar	rs80338695
google	rs80338695
pharmgkb	rs80338695
gwascentral	rs80338695
openSNP	rs80338695
23andMe	rs80338695
SNPshot	rs80338695
SNPdbe	rs80338695
MSV3d	rs80338695
GWAS Ctlg	rs80338695

Max Magnitude

0

OMIM	607465
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80338695(T;T)
Alt	rs80338695(T;T)
Reference	Rs80338695(C;C)
Significance	Pathogenic
Disease	Congenital dyserythropoietic anemia
Variation	info
Gene	CDAN1
CLNDBN	Congenital dyserythropoietic anemia, type I
Reversed	1
HGVS	NC_000015.10:g.42730760G>A
CLNSRC	ClinVar GeneReviews OMIM Allelic Variant
CLNACC	RCV000020953.2,

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