rs80338696

Orientation

minus

Stabilized

minus

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

Make rs80338696(C;T)

Make rs80338696(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42730632

Gene

CDAN1

is a	snp
is	mentioned by
dbSNP	rs80338696
dbSNP (classic)	rs80338696
ClinGen	rs80338696
ebi	rs80338696
HLI	rs80338696
Exac	rs80338696
Gnomad	rs80338696
Varsome	rs80338696
LitVar	rs80338696
Map	rs80338696
PheGenI	rs80338696
Biobank	rs80338696
1000 genomes	rs80338696
hgdp	rs80338696
ensembl	rs80338696
geneview	rs80338696
scholar	rs80338696
google	rs80338696
pharmgkb	rs80338696
gwascentral	rs80338696
openSNP	rs80338696
23andMe	rs80338696
SNPshot	rs80338696
SNPdbe	rs80338696
MSV3d	rs80338696
GWAS Ctlg	rs80338696

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs80338696(T;T)
Alt	rs80338696(T;T)
Reference	Rs80338696(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.43022830G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020954.1,