rs28941780

Orientation

plus

Stabilized

plus

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

Make rs28941780(A;A)

Make rs28941780(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

9937624

Gene

CRELD1

is a	snp
is	mentioned by
dbSNP	rs28941780
dbSNP (classic)	rs28941780
ClinGen	rs28941780
ebi	rs28941780
HLI	rs28941780
Exac	rs28941780
Gnomad	rs28941780
Varsome	rs28941780
LitVar	rs28941780
Map	rs28941780
PheGenI	rs28941780
Biobank	rs28941780
1000 genomes	rs28941780
hgdp	rs28941780
ensembl	rs28941780
geneview	rs28941780
scholar	rs28941780
google	rs28941780
pharmgkb	rs28941780
gwascentral	rs28941780
openSNP	rs28941780
23andMe	rs28941780
SNPshot	rs28941780
SNPdbe	rs28941780
MSV3d	rs28941780
GWAS Ctlg	rs28941780

GMAF

0.0004591

Max Magnitude

0

OMIM	607170
Desc	ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME
Variant	0003
Related	also

ClinVar
Risk	rs28941780(A;A)
Alt	rs28941780(A;A)
Reference	Rs28941780(G;G)
Significance	Pathogenic
Disease	Atrioventricular septal defect not specified Atrioventricular septal defect 2
Variation	info
Gene	CRELD1
CLNDBN	Atrioventricular septal defect, partial, with heterotaxy syndrome not specified Atrioventricular septal defect 2
Reversed	0
HGVS	NC_000003.11:g.9979308G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003598.3, RCV000372397.1, RCV000463003.1,