rs137852683

Orientation

minus

Stabilized

minus

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

Make rs137852683(A;G)

Make rs137852683(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173232648

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs137852683
dbSNP (classic)	rs137852683
ClinGen	rs137852683
ebi	rs137852683
HLI	rs137852683
Exac	rs137852683
Gnomad	rs137852683
Varsome	rs137852683
LitVar	rs137852683
Map	rs137852683
PheGenI	rs137852683
Biobank	rs137852683
1000 genomes	rs137852683
hgdp	rs137852683
ensembl	rs137852683
geneview	rs137852683
scholar	rs137852683
google	rs137852683
pharmgkb	rs137852683
gwascentral	rs137852683
openSNP	rs137852683
23andMe	rs137852683
SNPshot	rs137852683
SNPdbe	rs137852683
MSV3d	rs137852683
GWAS Ctlg	rs137852683

Max Magnitude

0

OMIM	600584
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137852683(G;G)
Alt	rs137852683(G;G)
Reference	Rs137852683(A;A)
Significance	Pathogenic
Disease	Atrial septal defect 7 with or without atrioventricular conduction defects Atrioventricular septal defect
Variation	info
Gene	NKX2-5
CLNDBN	Atrial septal defect 7 with or without atrioventricular conduction defects Atrioventricular septal defect, somatic
Reversed	1
HGVS	NC_000005.9:g.172659651T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009579.5, RCV000009580.5,