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rs201442000

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201442000(C;C)
Make rs201442000(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position173235019
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs201442000
dbSNP (old)rs201442000
ClinGenrs201442000
ebirs201442000
HLIrs201442000
Exacrs201442000
Varsomers201442000
Maprs201442000
PheGenIrs201442000
Biobankrs201442000
1000 genomesrs201442000
hgdprs201442000
ensemblrs201442000
gopubmedrs201442000
geneviewrs201442000
scholarrs201442000
googlers201442000
pharmgkbrs201442000
gwascentralrs201442000
openSNPrs201442000
23andMers201442000
23andMe allrs201442000
SNP Nexus

SNPshotrs201442000
SNPdbers201442000
MSV3drs201442000
GWAS Ctlgrs201442000
Max Magnitude0
ClinVar
Risk rs201442000(C;C) rs201442000(G;G)
Alt rs201442000(C;C) rs201442000(G;G)
Reference Rs201442000(T;T)
Significance Probable-Pathogenic
Disease not specified Abnormality of cardiovascular system morphology Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN not specified Abnormality of cardiovascular system morphology Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 0
HGVS NC_000005.9:g.172662022T>C
CLNSRC
CLNACC RCV000171017.3, RCV000193266.1, RCV000477570.1,