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rs587784066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs587784066(-;-)
Make rs587784066(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173233072
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs587784066
dbSNP (classic)rs587784066
ClinGenrs587784066
ebirs587784066
HLIrs587784066
Exacrs587784066
Gnomadrs587784066
Varsomers587784066
LitVarrs587784066
Maprs587784066
PheGenIrs587784066
Biobankrs587784066
1000 genomesrs587784066
hgdprs587784066
ensemblrs587784066
geneviewrs587784066
scholarrs587784066
googlers587784066
pharmgkbrs587784066
gwascentralrs587784066
openSNPrs587784066
23andMers587784066
SNPshotrs587784066
SNPdbers587784066
MSV3drs587784066
GWAS Ctlgrs587784066
Max Magnitude0
ClinVar
Risk rs587784066(-;-)
Alt rs587784066(-;-)
Reference Rs587784066(CA;CA)
Significance Pathogenic
Disease Malformation of the heart and great vessels
Variation info
Gene NKX2-5
CLNDBN Malformation of the heart and great vessels
Reversed 1
HGVS NC_000005.9:g.172660075_172660076delTG
CLNSRC
CLNACC RCV000146752.1,