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rs587782928

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587782928(A;G)
Make rs587782928(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173233083
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs587782928
ebirs587782928
HLIrs587782928
Exacrs587782928
Varsomers587782928
Maprs587782928
PheGenIrs587782928
hapmaprs587782928
1000 genomesrs587782928
hgdprs587782928
ensemblrs587782928
gopubmedrs587782928
geneviewrs587782928
scholarrs587782928
googlers587782928
pharmgkbrs587782928
gwascentralrs587782928
openSNPrs587782928
23andMers587782928
23andMe allrs587782928
SNP Nexus

SNPshotrs587782928
SNPdbers587782928
MSV3drs587782928
GWAS Ctlgrs587782928
Max Magnitude0
ClinVar
Risk rs587782928(G;G)
Alt rs587782928(G;G)
Reference rs587782928(A;A)
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.172660086T>C
CLNSRC
CLNACC RCV000144176.1,