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rs606231359

From SNPedia

Orientationminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs606231359(-;-)
Make rs606231359(-;GC)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173234855
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs606231359
ebirs606231359
HLIrs606231359
Exacrs606231359
Varsomers606231359
Maprs606231359
PheGenIrs606231359
hapmaprs606231359
1000 genomesrs606231359
hgdprs606231359
ensemblrs606231359
gopubmedrs606231359
geneviewrs606231359
scholarrs606231359
googlers606231359
pharmgkbrs606231359
gwascentralrs606231359
openSNPrs606231359
23andMers606231359
23andMe allrs606231359
SNP Nexus

SNPshotrs606231359
SNPdbers606231359
MSV3drs606231359
GWAS Ctlgrs606231359
Max Magnitude0
ClinVar
Risk rs606231359(;)
Alt rs606231359(;)
Reference rs606231359(GC;GC)
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.172661858_172661859delGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009578.3,