rs387906773

Orientation

minus

Stabilized

minus

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

Make rs387906773(A;T)

Make rs387906773(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173235040

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs387906773
dbSNP (classic)	rs387906773
ClinGen	rs387906773
ebi	rs387906773
HLI	rs387906773
Exac	rs387906773
Gnomad	rs387906773
Varsome	rs387906773
LitVar	rs387906773
Map	rs387906773
PheGenI	rs387906773
Biobank	rs387906773
1000 genomes	rs387906773
hgdp	rs387906773
ensembl	rs387906773
geneview	rs387906773
scholar	rs387906773
google	rs387906773
pharmgkb	rs387906773
gwascentral	rs387906773
openSNP	rs387906773
23andMe	rs387906773
SNPshot	rs387906773
SNPdbe	rs387906773
MSV3d	rs387906773
GWAS Ctlg	rs387906773

Max Magnitude

0

ClinVar
Risk	rs387906773(T;T)
Alt	rs387906773(T;T)
Reference	Rs387906773(A;A)
Significance	Pathogenic
Disease	Atrial septal defect 7 with or without atrioventricular conduction defects
Variation	info
Gene	NKX2-5
CLNDBN	Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed	1
HGVS	NC_000005.9:g.172662043T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023020.5,