rs104893904

Orientation

minus

Stabilized

minus

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

Make rs104893904(C;C)

Make rs104893904(C;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

173235023

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs104893904
dbSNP (classic)	rs104893904
ClinGen	rs104893904
ebi	rs104893904
HLI	rs104893904
Exac	rs104893904
Gnomad	rs104893904
Varsome	rs104893904
LitVar	rs104893904
Map	rs104893904
PheGenI	rs104893904
Biobank	rs104893904
1000 genomes	rs104893904
hgdp	rs104893904
ensembl	rs104893904
geneview	rs104893904
scholar	rs104893904
google	rs104893904
pharmgkb	rs104893904
gwascentral	rs104893904
openSNP	rs104893904
23andMe	rs104893904
SNPshot	rs104893904
SNPdbe	rs104893904
MSV3d	rs104893904
GWAS Ctlg	rs104893904

Max Magnitude

0

OMIM	600584
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893904(C;C)
Alt	rs104893904(C;C)
Reference	Rs104893904(G;G)
Significance	Other
Disease	Tetralogy of Fallot Congenital heart disease not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Variation	info
Gene	NKX2-5
CLNDBN	Tetralogy of Fallot Congenital heart disease not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed	1
HGVS	NC_000005.9:g.172662026C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009574.6, RCV000030618.1, RCV000171013.5, RCV000457939.1,