rs104893906

Orientation

minus

Stabilized

minus

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

Make rs104893906(C;T)

Make rs104893906(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173232976

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs104893906
dbSNP (classic)	rs104893906
ClinGen	rs104893906
ebi	rs104893906
HLI	rs104893906
Exac	rs104893906
Gnomad	rs104893906
Varsome	rs104893906
LitVar	rs104893906
Map	rs104893906
PheGenI	rs104893906
Biobank	rs104893906
1000 genomes	rs104893906
hgdp	rs104893906
ensembl	rs104893906
geneview	rs104893906
scholar	rs104893906
google	rs104893906
pharmgkb	rs104893906
gwascentral	rs104893906
openSNP	rs104893906
23andMe	rs104893906
SNPshot	rs104893906
SNPdbe	rs104893906
MSV3d	rs104893906
GWAS Ctlg	rs104893906

Max Magnitude

0

OMIM	600584
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104893906(T;T)
Alt	rs104893906(T;T)
Reference	Rs104893906(C;C)
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.172659979G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009582.4,