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rs587782929

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782929(-;-)
Make rs587782929(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173232926
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs587782929
ebirs587782929
HLIrs587782929
Exacrs587782929
Varsomers587782929
Maprs587782929
PheGenIrs587782929
hapmaprs587782929
1000 genomesrs587782929
hgdprs587782929
ensemblrs587782929
gopubmedrs587782929
geneviewrs587782929
scholarrs587782929
googlers587782929
pharmgkbrs587782929
gwascentralrs587782929
openSNPrs587782929
23andMers587782929
23andMe allrs587782929
SNP Nexus

SNPshotrs587782929
SNPdbers587782929
MSV3drs587782929
GWAS Ctlgrs587782929
Max Magnitude0
ClinVar
Risk rs587782929(;)
Alt rs587782929(;)
Reference rs587782929(G;G)
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.172659929delC
CLNSRC
CLNACC RCV000144177.1,