rs104893907

Orientation

minus

Stabilized

minus

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

Make rs104893907(A;A)

Make rs104893907(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173232776

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs104893907
dbSNP (classic)	rs104893907
ClinGen	rs104893907
ebi	rs104893907
HLI	rs104893907
Exac	rs104893907
Gnomad	rs104893907
Varsome	rs104893907
LitVar	rs104893907
Map	rs104893907
PheGenI	rs104893907
Biobank	rs104893907
1000 genomes	rs104893907
hgdp	rs104893907
ensembl	rs104893907
geneview	rs104893907
scholar	rs104893907
google	rs104893907
pharmgkb	rs104893907
gwascentral	rs104893907
openSNP	rs104893907
23andMe	rs104893907
SNPshot	rs104893907
SNPdbe	rs104893907
MSV3d	rs104893907
GWAS Ctlg	rs104893907

Max Magnitude

0

OMIM	600584
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104893907(A;A) rs104893907(G;G)
Alt	rs104893907(A;A) rs104893907(G;G)
Reference	Rs104893907(T;T)
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.172659779A>C; NC_000005.9:g.172659779A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000240621.1, RCV000009583.4,