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rs587782930

From SNPedia

Orientationminus
Geno Mag Summary
(TACGGCGT;TACGGCGT) 0 common in clinvar
Make rs587782930(-;-)
Make rs587782930(-;TACGGCGT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173232816
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs587782930
ebirs587782930
HLIrs587782930
Exacrs587782930
Varsomers587782930
Maprs587782930
PheGenIrs587782930
hapmaprs587782930
1000 genomesrs587782930
hgdprs587782930
ensemblrs587782930
gopubmedrs587782930
geneviewrs587782930
scholarrs587782930
googlers587782930
pharmgkbrs587782930
gwascentralrs587782930
openSNPrs587782930
23andMers587782930
23andMe allrs587782930
SNP Nexus

SNPshotrs587782930
SNPdbers587782930
MSV3drs587782930
GWAS Ctlgrs587782930
Max Magnitude0
ClinVar
Risk rs587782930(;)
Alt rs587782930(;)
Reference rs587782930(TACGGCGT;TACGGCGT)
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.172659819_172659826delACGCCGTA
CLNSRC
CLNACC RCV000144178.1,