Rs104893906

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893906(C;T)
Make rs104893906(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232976
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs104893906
Exacrs104893906
PheGenIrs104893906
nextbiors104893906
hapmaprs104893906
1000 genomesrs104893906
hgdprs104893906
ensemblrs104893906
gopubmedrs104893906
geneviewrs104893906
scholarrs104893906
googlers104893906
pharmgkbrs104893906
gwascentralrs104893906
openSNPrs104893906
23andMers104893906
23andMe allrs104893906
SNP Nexus

SNPshotrs104893906
SNPdbers104893906
MSV3drs104893906
OMIM600584
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893906(T;T)
Alt rs104893906(T;T)
Reference rs104893906(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.172659979G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009582.1,