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rs606231360

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231360(-;-)
Make rs606231360(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173234822
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs606231360
ebirs606231360
HLIrs606231360
Exacrs606231360
Varsomers606231360
Maprs606231360
PheGenIrs606231360
hapmaprs606231360
1000 genomesrs606231360
hgdprs606231360
ensemblrs606231360
gopubmedrs606231360
geneviewrs606231360
scholarrs606231360
googlers606231360
pharmgkbrs606231360
gwascentralrs606231360
openSNPrs606231360
23andMers606231360
23andMe allrs606231360
SNP Nexus

SNPshotrs606231360
SNPdbers606231360
MSV3drs606231360
GWAS Ctlgrs606231360
Max Magnitude0
ClinVar
Risk rs606231360(;)
Alt rs606231360(;)
Reference rs606231360(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.172661825delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009581.5,