rs72554028

Orientation

minus

Stabilized

minus

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

Make rs72554028(A;A)

Make rs72554028(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173233001

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs72554028
dbSNP (classic)	rs72554028
ClinGen	rs72554028
ebi	rs72554028
HLI	rs72554028
Exac	rs72554028
Gnomad	rs72554028
Varsome	rs72554028
LitVar	rs72554028
Map	rs72554028
PheGenI	rs72554028
Biobank	rs72554028
1000 genomes	rs72554028
hgdp	rs72554028
ensembl	rs72554028
geneview	rs72554028
scholar	rs72554028
google	rs72554028
pharmgkb	rs72554028
gwascentral	rs72554028
openSNP	rs72554028
23andMe	rs72554028
SNPshot	rs72554028
SNPdbe	rs72554028
MSV3d	rs72554028
GWAS Ctlg	rs72554028

GMAF

0.00551

Max Magnitude

0

ClinVar
Risk	rs72554028(A;A) rs72554028(C;C)
Alt	rs72554028(A;A) rs72554028(C;C)
Reference	Rs72554028(G;G)
Significance	Other
Disease	Atrial septal defect 7 with or without atrioventricular conduction defects Atrial septal defect not specified
Variation	info
Gene	NKX2-5
CLNDBN	Atrial septal defect 7 with or without atrioventricular conduction defects Atrial septal defect not specified
Reversed	1
HGVS	NC_000005.9:g.172660004C>G; NC_000005.9:g.172660004C>T
CLNSRC	HGMD Broad Institute of MIT and Harvard
CLNACC	RCV000030338.1, RCV000030337.1, RCV000146753.7, RCV000227846.2,

[PMID 15161646] Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

[PMID 18976153] Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.

[PMID 19181906] Investigation of somatic NKX2-5 mutations in congenital heart disease.

[PMID 19464101] Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.