Rs104893900

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Orientationminus
is asnp
is mentioned by
dbSNPrs104893900
PheGenIrs104893900
nextbiors104893900
hapmaprs104893900
1000 genomesrs104893900
hgdprs104893900
ensemblrs104893900
gopubmedrs104893900
geneviewrs104893900
scholarrs104893900
googlers104893900
pharmgkbrs104893900
gwascentralrs104893900
openSNPrs104893900
23andMers104893900
23andMe allrs104893900
SNP Nexus

SNPshotrs104893900
SNPdbers104893900
MSV3drs104893900
GeneNKX2-5
Chromosome5
Orientationminus
Position172660014
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893900(C;T)
Make rs104893900(T;T)
OMIM600584
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893900(T;T)
Alt rs104893900(T;T)
Reference rs104893900(C;C)
Significance 5
Disease Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar info
Gene NKX2-5
CLNDBN Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
CLNHGVS NC_000005.9:g.172660014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009568.1