rs387906775

Orientation

minus

Stabilized

minus

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

Make rs387906775(C;G)

Make rs387906775(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173234909

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs387906775
dbSNP (classic)	rs387906775
ClinGen	rs387906775
ebi	rs387906775
HLI	rs387906775
Exac	rs387906775
Gnomad	rs387906775
Varsome	rs387906775
LitVar	rs387906775
Map	rs387906775
PheGenI	rs387906775
Biobank	rs387906775
1000 genomes	rs387906775
hgdp	rs387906775
ensembl	rs387906775
geneview	rs387906775
scholar	rs387906775
google	rs387906775
pharmgkb	rs387906775
gwascentral	rs387906775
openSNP	rs387906775
23andMe	rs387906775
SNPshot	rs387906775
SNPdbe	rs387906775
MSV3d	rs387906775
GWAS Ctlg	rs387906775

Max Magnitude

0

ClinVar
Risk	rs387906775(G;G)
Alt	rs387906775(G;G)
Reference	Rs387906775(C;C)
Significance	Pathogenic
Disease	Ventricular septal defect 3
Variation	info
Gene	NKX2-5
CLNDBN	Ventricular septal defect 3
Reversed	1
HGVS	NC_000005.9:g.172661912G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023024.2,