Rs104893900

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893900(C;T)
Make rs104893900(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position173233011
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs104893900
Exacrs104893900
PheGenIrs104893900
nextbiors104893900
hapmaprs104893900
1000 genomesrs104893900
hgdprs104893900
ensemblrs104893900
gopubmedrs104893900
geneviewrs104893900
scholarrs104893900
googlers104893900
pharmgkbrs104893900
gwascentralrs104893900
openSNPrs104893900
23andMers104893900
23andMe allrs104893900
SNP Nexus

SNPshotrs104893900
SNPdbers104893900
MSV3drs104893900
Max Magnitude0
OMIM600584
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893900(T;T)
Alt rs104893900(T;T)
Reference rs104893900(C;C)
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.172660014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009568.1,