rs104893900

Orientation

minus

Stabilized

minus

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

Make rs104893900(C;T)

Make rs104893900(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

173233011

Gene

NKX2-5

is a	snp
is	mentioned by
dbSNP	rs104893900
dbSNP (classic)	rs104893900
ClinGen	rs104893900
ebi	rs104893900
HLI	rs104893900
Exac	rs104893900
Gnomad	rs104893900
Varsome	rs104893900
LitVar	rs104893900
Map	rs104893900
PheGenI	rs104893900
Biobank	rs104893900
1000 genomes	rs104893900
hgdp	rs104893900
ensembl	rs104893900
geneview	rs104893900
scholar	rs104893900
google	rs104893900
pharmgkb	rs104893900
gwascentral	rs104893900
openSNP	rs104893900
23andMe	rs104893900
SNPshot	rs104893900
SNPdbe	rs104893900
MSV3d	rs104893900
GWAS Ctlg	rs104893900

Max Magnitude

0

OMIM	600584
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893900(T;T)
Alt	rs104893900(T;T)
Reference	Rs104893900(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.172660014G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009568.3,